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Doença de Alexander, tipo II
ORPHA:363722CID-10 · G93.8DOENÇA RARA

A doença de Alexander tipo II (AxD tipo II) é uma astrogliopatia e uma forma da doença de Alexander (AxD) caracterizada por ataxia, sintomas bulbares, paraparesia espástica, mioclonia palatal e sintomas autonômicos.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A doença de Alexander tipo II (AxD tipo II) é uma astrogliopatia e uma forma da doença de Alexander (AxD) caracterizada por ataxia, sintomas bulbares, paraparesia espástica, mioclonia palatal e sintomas autonômicos.

Publicações científicas
4.578 artigos
Último publicado: 2026 Apr 8

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adolescent
+ adult, childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G93.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
4 sintomas
💪
Músculos
2 sintomas
❤️
Coração
2 sintomas
🫃
Digestivo
1 sintomas
🫘
Rins
1 sintomas
👁️
Olhos
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

90%prev.
Atrofia da medula espinhal cervical
Muito frequente (99-80%)
90%prev.
Morfologia anormal do bulbo raquidiano
Muito frequente (99-80%)
55%prev.
Fraqueza muscular de membro
Frequente (79-30%)
55%prev.
Ataxia
Frequente (79-30%)
55%prev.
Disfagia
Frequente (79-30%)
55%prev.
Mioclonia palatal
Frequente (79-30%)
20sintomas
Muito frequente (2)
Frequente (15)
Ocasional (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Atrofia da medula espinhal cervicalCervical spinal cord atrophy
Muito frequente (99-80%)90%
Morfologia anormal do bulbo raquidianoAbnormality of the medulla oblongata
Muito frequente (99-80%)90%
Fraqueza muscular de membroLimb muscle weakness
Frequente (79-30%)55%
Ataxia
Frequente (79-30%)55%
DisfagiaDysphagia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico4.578PubMed
Últimos 10 anos200publicações
Pico202133 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

GFAPGlial fibrillary acidic proteinDisease-causing germline mutation(s) (gain of function) inTolerante
FUNÇÃO

GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (1)
Chaperone Mediated Autophagy
MECANISMO DE DOENÇA

Alexander disease

A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.

EXPRESSÃO TECIDUAL(Tecido-específico)
Brain Spinal cord cervical c-1
9333.8 TPM
Substância negra
3372.0 TPM
Hipotálamo
2922.2 TPM
Hipocampo
1638.7 TPM
Cérebro - Amígdala
1354.5 TPM
OUTRAS DOENÇAS (3)
Alexander diseaseAlexander disease type IAlexander disease type II
HGNC:4235UniProt:P14136

Variantes genéticas (ClinVar)

264 variantes patogênicas registradas no ClinVar.

🧬 GFAP: NM_002055.5(GFAP):c.1250A>G (p.Asp417Gly) ()
🧬 GFAP: NM_002055.5(GFAP):c.71dup (p.Leu25fs) ()
🧬 GFAP: NM_002055.5(GFAP):c.192G>C (p.Glu64Asp) ()
🧬 GFAP: NM_002055.5(GFAP):c.1072G>A (p.Ala358Thr) ()
🧬 GFAP: NM_002055.5(GFAP):c.1120G>C (p.Glu374Gln) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 176 variantes classificadas pelo ClinVar.

70
97
9
Patogênica (39.8%)
VUS (55.1%)
Benigna (5.1%)
VARIANTES MAIS SIGNIFICATIVAS
GFAP: NM_002055.5(GFAP):c.1072G>A (p.Ala358Thr) [Likely pathogenic]
GFAP: NM_002055.5(GFAP):c.241G>C (p.Ala81Pro) [Likely pathogenic]
GFAP: NM_002055.5(GFAP):c.808C>G (p.Arg270Gly) [Likely pathogenic]
GFAP: NM_002055.5(GFAP):c.650G>A (p.Arg217Gln) [Conflicting classifications of pathogenicity]
GFAP: NM_002055.5(GFAP):c.370C>T (p.Arg124Trp) [Conflicting classifications of pathogenicity]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença de Alexander, tipo II

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
292 papers (10 anos)
#1

Daratumumab in systemic lupus erythematosus: a single-arm phase 2 trial.

Nature communications2026 Feb 03

Antibody-secreting cells (ASCs) play a central role in the pathophysiology of systemic lupus erythematosus (SLE). This single-arm, open-label, phase 2 clinical trial aims to evaluate the safety and efficacy of the ASC-depleting anti-CD38 monoclonal antibody daratumumab in patients with SLE (NCT04810754). The primary endpoint is the reduction in serum anti-double-stranded DNA (anti-dsDNA) antibody levels at week 12. Key secondary end points include safety, clinical efficacy, and immunologic changes. Ten female patients with active disease and inadequate responses to at least two immunosuppressive drugs have received eight subcutaneous injections of 1800 mg daratumumab weekly, with dexamethasone as premedication (20 mg for first two injections, then 10 mg). By week 12, anti-dsDNA antibody levels have been reduced by a median of 109.6 IU/ml (95% CI 38.1 - 274.5). The treatment resulted in rapid and sustained clinical improvements across all patients and organ domains, reflected by a 100% SRI-4 (Systemic Lupus Erythematosus Responder Index-4) response rate at week 12. Hypogammaglobulinemia occurred in 5/10 patients, requiring immunoglobulin substitution. Daratumumab treatment has depleted circulating ASCs, reduced type I interferon activity, and profoundly modulated the T-cell responses. These findings highlight the pivotal role of ASCs in SLE pathogenesis and support daratumumab as therapeutic option for SLE.

#2

Coramitug, a Humanized Monoclonal Antibody for the Treatment of Transthyretin Amyloid Cardiomyopathy: A Phase 2, Randomized, Multicenter, Double-Blind, Placebo-Controlled Trial.

Circulation2026 Jan 27

Transthyretin amyloidosis with cardiomyopathy is a progressive disease caused by the deposition of transthyretin (TTR) as amyloid in the myocardium. Current therapies may slow disease progression but do not clear existing deposits. Coramitug is a humanized monoclonal antibody that targets misfolded transthyretin, designed to promote clearance of transthyretin amyloid through antibody-mediated phagocytosis. This phase 2, double-blind, placebo-controlled trial randomized participants with transthyretin amyloidosis with cardiomyopathy to receive infusions every 4 weeks of either coramitug at 2 dosages (10 mg/kg or 60 mg/kg) or placebo in a 1:1:1 ratio for 52 weeks. The primary end points were the change from baseline to week 52 in the 6-minute walk test and NT-proBNP (N-terminal pro-B-type natriuretic peptide) levels. Safety was assessed for up to 64 weeks by assessing treatment-emergent adverse events, all-cause mortality, and number of cardiovascular events (comprising hospitalization caused by cardiovascular events or urgent heart failure visits). In total, 104 participants (median age, 77 years; 93% men; 84% New York Heart Association class II; 13% with variant transthyretin amyloidosis with cardiomyopathy) were randomized and dosed: 34 to 10 mg/kg of coramitug, 35 to 60 mg/kg of coramitug, and 35 to placebo. Median NT-proBNP was 1985 pg/mL (interquartile range, 1224, 3406). In total, 90% of participants were receiving disease-modifying therapy; 84% were treated with tafamidis and 7 (6.7%) with transthyretin silencers (patisiran, n=4; vutrisiran, n=3). From baseline to week 52, 60 mg/kg of coramitug significantly reduced NT-proBNP levels compared with placebo (-48% [95% CI, -65% to -22%]; P=0.0017). The change in 6-minute walk test from baseline to week 52 was not statistically different from placebo with either dose. Coramitug (60 mg/kg) was associated with improved functional echocardiographic parameters and was well tolerated. This phase 2 trial showed that coramitug, an antibody targeting misfolded transthyretin in transthyretin amyloidosis with cardiomyopathy, was well tolerated and, at a dose of 60 mg/kg, resulted in a statistically significant reduction in NT-proBNP, a validated marker of disease progression, with no statistically significant effect on 6-minute walk test within 52 weeks. URL: https://www.clinicaltrials.gov; Unique identifier: NCT05442047.

#3

Differences in Prevalence and Severity of Liver Disease Between Lateral Tunnel and Extracardiac Conduit Fontan.

JACC. Advances2026 Mar 17

Recent studies suggest differences in liver disease severity based on the type of total cavopulmonary connection (TCPC). The purpose of this study was to compare the severity and progression of liver disease between patients with extracardiac conduit (ECC) vs lateral tunnel (LT) using 2 separate cohorts: i) TCPC at the initial Fontan operation (primary-TCPC cohort) and ii) Fontan conversion (FC) to TCPC (FC-TCPC cohort). This is a retrospective study of adults with TCPC (ECC [N = 62, 46%]; LT [N = 73,54%). Liver disease severity was assessed at baseline using biomarkers (model for end-stage liver disease excluding international normalized ratio, Fibrosis-4 [FIB-4], aspartate aminotransferase to platelet ratio index [APRI]), and progression of liver disease was assessed as temporal change in biomarkers at 3, 5, and 7 years. In the primary-TCPC cohort (ECC [N = 62,46%]; LT [N = 73,54%), patients with ECC had a higher prevalence of cirrhosis (27% vs 12%; P = 0.03) and worse disease severity at baseline (APRI 0.46 [0.34;0.61] vs 0.39 [0.29;0.52], P < 0.001; FIB-4 (0.89 [0.59;1.12] vs 0.76 [0.31;0.99], P = 0.009) compared to LT. Both groups had progression of liver disease (temporal increase in biomarker levels), but the ECC group had a greater temporal increase in biomarker levels resulting in a higher relative increase in model for end-stage liver disease excluding international normalized ratio, FIB-4, and APRI. There were no significant differences in prevalence and severity of liver disease at baseline, or liver disease progression during follow-up between patients with ECC vs LT in the FC-TCPC group. ECC was associated with a higher prevalence and worse severity of liver disease at baseline, and greater disease progression during follow-up compared to those with LT. Further studies are required to determine the optimal strategies for the management of liver disease in patients with ECC.

#4

Variability in BIA-Derived Muscle Mass Estimates: Device Choice Impacts Diagnostic Classification.

Nutrients2026 Feb 26

Background/Objectives: Although discrepancies between bioelectrical impedance analysis (BIA) devices are well documented, their clinical relevance in vulnerable populations remains unclear. This study aims to assess the impact of device choice on muscle mass classification criteria in patients with cancer or obesity and to identify modifiers of device variability. Methods: BIA data from 224 adults (85 with cancer, 139 with obesity) measured with two segmental multi-frequency devices (seca mBCA 515 and InBody 970) were analyzed. Device differences were assessed using the Wilcoxon signed-rank test and agreement analyses. Differences in classification of body composition cut-offs cited in the GLIM criteria for malnutrition and the ESPEN and EASO criteria for sarcopenic obesity were evaluated using McNemar's test. The impact of disease type, sex, and age on device differences was examined through multivariable models. Results: Significant device differences were found for all parameters (all p ≤ 0.005). Discrepancies were largest for skeletal muscle mass (kg and %), with effect sizes r > 0.8 and poor agreement (Lin's CCC < 0.90). A significant impact of device choice on muscle mass classification was observed for both cancer and obesity patients (p < 0.001), with seca classifying more patients as having low fat-free mass (50% vs. 20%) and as having a body composition consistent with sarcopenic obesity (90% vs. 50%) than InBody. Discrepancies were more pronounced in cancer patients and females. Conclusions: Muscle mass assessment by BIA is highly dependent on device choice, potentially leading to clinically relevant discrepancies in classification when rigid cut-offs are applied. An individualized interpretation of BIA data and further validation of prediction equations in disease-specific subpopulations is warranted.

#5

Development of Radiomics Models to Predict Progression-Free Survival and Early Polymetastatic Progression in Patients With Lung Oligometastases Treated on the Single-Arm Phase II Stereotactic Ablative Radiotherapy-5 Trial.

Clinical oncology (Royal College of Radiologists (Great Britain))2026 Feb 12

Despite the increasing use of stereotactic ablative radiotherapy (SABR) for oligometastatic cancer, at present, accurate models to predict the time until disease progression are lacking. The study developed radiomics models to predict progression-free survival (PFS) and early polymetastatic progression (PMP) in order to improve upon basic clinical prognostic models in lung oligometastatic patients treated in the population-based single-arm SABR-5 trial. Among 134 patients treated for lung oligometastases in the SABR-5 trial, pretreatment computed tomography images were available for 126 patients for inclusion in this study. In total, 1116 radiomic features were extracted from the original, wavelet-filtered, and Laplacian of Gaussian (LoG)-filtered images using PyRadiomics. Analyses were developed to predict (1) PFS and (2) early PMP, defined as progression of more than 5 lesions within 6 months of SABR. Clinical-only (ECOG score, primary tumour type, oligoprogression, and gross tumour volume [GTV]), radiomics-only, and combined models were developed. Feature selection was performed using the Pearson correlation coefficient. Cox proportional hazards regression was used to predict PFS and stratify patients into high- and low-risk groups. For the early PMP model, a support vector machine was evaluated using 10-, 5-, and 3-fold cross-validation. The radiomics-only and combined models achieved a concordance index of 0.72 in the test set, versus 0.52 for the clinical-only model. The radiomics model stratified patients into high- and low-risk groups in both the training and test sets (P < 0.001 and 0.041, respectively). In the early PMP model, area under the receiver operating characteristic curve (AUC), true-positive rate, and true-negative rate across all folds (10, 5, and 3) were 0.85, 0.73, and 0.78 for the radiomics-only model and 0.47, 0.45, and 0.62 for the clinical-only model, respectively. Radiomics models outperformed clinical models for predicting PFS and early PMP. These radiomics models could potentially assist with optimal patient selection and treatment strategies for patients with pulmonary oligometastases.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC393 artigos no totalmostrando 198

2026

Differences in Prevalence and Severity of Liver Disease Between Lateral Tunnel and Extracardiac Conduit Fontan.

JACC. Advances
2026

Variability in BIA-Derived Muscle Mass Estimates: Device Choice Impacts Diagnostic Classification.

Nutrients
2026

Development of Radiomics Models to Predict Progression-Free Survival and Early Polymetastatic Progression in Patients With Lung Oligometastases Treated on the Single-Arm Phase II Stereotactic Ablative Radiotherapy-5 Trial.

Clinical oncology (Royal College of Radiologists (Great Britain))
2026

Beyond Survival: Factors Driving Textbook Outcome After Simultaneous Pancreas-Kidney Transplantation-A Retrospective Analysis.

Journal of clinical medicine
2026

Daratumumab in systemic lupus erythematosus: a single-arm phase 2 trial.

Nature communications
2026

Histopathological Characterization and Differential Expression of miRNAs in Male Pediatric Patients With Lichen Sclerosus.

Andrology
2026

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Molecular genetics and metabolism
2025

Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines.

EJHaem
2026

Coramitug, a Humanized Monoclonal Antibody for the Treatment of Transthyretin Amyloid Cardiomyopathy: A Phase 2, Randomized, Multicenter, Double-Blind, Placebo-Controlled Trial.

Circulation
2025

Short- and mid-term effects of empagliflozin on sodium balance and fluid regulation in chronic heart failure.

European journal of heart failure
2025

First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.

Gut
2025

A phase Ib/II trial of neoadjuvant neratinib added to standard therapy in patients with HER2-positive or HR-positive/HER2-negative inflammatory breast cancer (including stage III and IV disease).

Therapeutic advances in medical oncology
2026

Weak influence of light and time of day on transcriptional response to SAV3 infection in Atlantic salmon (Salmo salar) smolts.

Fish &amp; shellfish immunology
2025

Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research.

Neuropathology and applied neurobiology
2026

Breaking primary checkpoint inhibitor resistance with intermittent alkylating chemotherapy in patients with metastatic melanoma: results of a multicentre phase II trial.

The British journal of dermatology
2025

Impact of myotomy length on per-oral endoscopic myotomy (POEM) outcomes for achalasia: a meta-analysis of randomized trials.

Surgical endoscopy
2025

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Cerebellum (London, England)
2025

Functional Autoantibodies Targeting G-Protein-Coupled Receptors and Their Clinical Phenotype in Patients with Long-COVID.

International journal of molecular sciences
2026

Differential molecular signatures in response to CD19-CAR T cell therapy compared with conventional pharmacotherapy in systemic lupus erythematosus.

Annals of the rheumatic diseases
2025

Loss of NR2F6 Protects from Salmonella Typhimurium Infection.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Finerenone with Empagliflozin in Chronic Kidney Disease and Type 2 Diabetes.

The New England journal of medicine
2025

Successful Anesthetic Management for Laparoscopic Gynecological Surgery in Adult-Onset Alexander's Disease: A Case Report.

Cureus
2025

The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.

The Journal of pediatrics
2025

Hypertension Canada guideline for the diagnosis and treatment of hypertension in adults in primary care.

Canadian pharmacists journal : CPJ = Revue des pharmaciens du Canada : RPC
2025

Efficacy and safety of rigosertib in patients with recessive dystrophic epidermolysis bullosa-associated advanced/metastatic cutaneous squamous cell carcinoma.

The British journal of dermatology
2025

Targeting interferon responses in juvenile dermatomyositis: Siglec-1 as an in vitro biomarker for JAK inhibitor efficacy.

Rheumatology (Oxford, England)
2025

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Annals of clinical and translational neurology
2025

Changes in Chronic Graft-versus-Host Disease Treatment Over Time: A 15-Years Survey Within Allogeneic Hematopoietic Stem Cell Transplant Centers in Germany, Austria, and Switzerland.

Transplantation and cellular therapy
2025

Bilateral vestibulopathy in Alexander disease type II- a case report.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

HTD1801 demonstrates promising potential for histologic improvements in metabolic dysfunction-associated steatohepatitis in both a preclinical and phase 2 study.

Clinical and molecular hepatology
2025

Number needed to treat (NNT) with pembrolizumab as an adjuvant therapy in resected patients with high-risk stage II (IIB and IIC) melanoma and its application to cost of preventing an event (COPE) in Mexico.

Journal of medical economics
2025

Comprehensive analysis of human dendritic spine morphology and density.

Journal of neurophysiology
2025

Molecular basis for the disease-modifying effects of belimumab in systemic lupus erythematosus and molecular predictors of early response: blood transcriptome analysis implicates the innate immunity and DNA damage response pathways.

Annals of the rheumatic diseases
2025

COmbinatioN effect of FInerenone anD EmpaglifloziN in participants with chronic kidney disease and type 2 diabetes using a UACR Endpoint (CONFIDENCE) trial: baseline clinical characteristics.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2025

Activated CD27+PD-1+ CD8 T Cells and CD4 T Regulatory Cells Dominate the Tumor Microenvironment in Refractory Celiac Disease Type II.

Gastro hep advances
2025

The soluble guanylate cyclase activator runcaciguat significantly improves albuminuria in patients with chronic kidney disease: a randomized placebo-controlled clinical trial.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2024

The orphan nuclear receptor Nr4a1 contributes to interstitial cardiac fibrosis via modulation of cardiac fibroblast and macrophage phenotype.

Cellular and molecular life sciences : CMLS
2025

Cross-Sex Hormone Therapy Is Associated With Loss of Circadian Rhythm in the Male Rat.

Hypertension (Dallas, Tex. : 1979)
2024

Neutrophils with low production of reactive oxygen species are activated during immune priming and promote development of arthritis.

Redox biology
2024

Anti-CD19 CAR-T cells are effective in severe idiopathic Lambert-Eaton myasthenic syndrome.

Cell reports. Medicine
2024

Neurosurgical application of olaparib from a thermo-responsive paste potentiates DNA damage to prolong survival in malignant glioma.

British journal of cancer
2024

A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes.

Cell reports
2024

Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease.

Nature communications
2024

ApoA-I Infusions and Burden of Ischemic Events After Acute Myocardial Infarction: Insights From the AEGIS-II Trial.

Journal of the American College of Cardiology
2024

MoReLife - real-life data support the potential of momelotinib as a safe and effective treatment option for cytopenic myelofibrosis patients.

Annals of hematology
2024

Regional socioeconomic deprivation associated with the use of sodium-glucose cotransporter-2 inhibitors and glucagon-like peptide-1 receptor agonists in adults with type 2 diabetes in Germany.

Diabetes, obesity &amp; metabolism
2023

Load-induced blood marker kinetics in patients with medial knee compartment osteoarthritis are associated with accumulated load and patient reported outcome measures.

F1000Research
2024

Early diet and the risk of coeliac disease. An update 2024 position paper by the ESPGHAN special interest group on coeliac disease.

Journal of pediatric gastroenterology and nutrition
2024

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.

AJNR. American journal of neuroradiology
2024

Disentangling the riddle of systemic lupus erythematosus with antiphospholipid syndrome: blood transcriptome analysis reveals a less-pronounced IFN-signature and distinct molecular profiles in venous versus arterial events.

Annals of the rheumatic diseases
2024

Gastric neuroendocrine neoplasms.

Nature reviews. Disease primers
2024

Effect of Reconstituted Human Apolipoprotein A-I on Recurrent Ischemic Events in Survivors of Acute MI.

Journal of the American College of Cardiology
2024

Microvascular damage, neuroinflammation and extracellular matrix remodeling in Col18a1 knockout mice as a model for early cerebral small vessel disease.

Matrix biology : journal of the International Society for Matrix Biology
2024

Interaction between clinicians and artificial intelligence to detect fetal atrioventricular septal defects on ultrasound: how can we optimize collaborative performance?

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.

Neurology
2023

Obesity-Induced Hyperglycemia and Heart Failure Preserved Ejection Fraction: Uncharted Territories to Remission.

Cureus
2023

Human and mouse neutrophils share core transcriptional programs in both homeostatic and inflamed contexts.

Nature communications
2023

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.

Orphanet journal of rare diseases
2023

Meta-GWAS on PCSK9 concentrations reveals associations of novel loci outside the PCSK9 locus in White populations.

Atherosclerosis
2024

Predictors of Kidney Function Outcomes and Their Relation to SGLT2 Inhibitor Dapagliflozin in Patients with Type 2 Diabetes Mellitus Who Had Chronic Heart Failure.

Advances in therapy
2023

Immunogenicity and reactogenicity of a first booster with BNT162b2 or full-dose mRNA-1273: A randomised VACCELERATE trial in adults ≥75 years (EU-COVAT-1).

Vaccine
2024

Traumatic vertebral artery injury: Denver grade, bilaterality, and stroke risk. A systematic review and meta-analysis.

Journal of neurosurgery
2023

Older adult-onset Alexander disease with atypical clinicoradiological features: a case report.

Frontiers in neurology
2023

Ratio of Urinary Proteins to Albumin Excretion Shifts Substantially during Progression of the Podocytopathy Alport Syndrome, and Spot Urine Is a Reliable Method to Detect These Pathologic Changes.

Cells
2023

Proteolytic processing of galectin-3 by meprin metalloproteases is crucial for host-microbiome homeostasis.

Science advances
2023

p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study.

The journal of pathology. Clinical research
2023

Deep Learning-Based Segmentation of Locally Advanced Breast Cancer on MRI in Relation to Residual Cancer Burden: A Multi-Institutional Cohort Study.

Journal of magnetic resonance imaging : JMRI
2023

Legg-Calve-Perthes' disease: an opportunity to prevent blindness?

Archives of disease in childhood
2023

Anti-DNA-IgM Favors the Detection of NET-Associated Extracellular DNA.

International journal of molecular sciences
2023

Diagnostic features of type II fibrinoid leukodystrophy (Alexander disease) in a juvenile Beagle dog.

Journal of veterinary internal medicine
2023

Invasive validation of the Antares algorithm for determining central blood pressure based on upper arm oscillometric pulse waves in patients with type 2 diabetes.

BMJ open diabetes research &amp; care
2022

The Trimeric Artesunate Analog TF27, a Broadly Acting Anti-Infective Model Drug, Exerts Pronounced Anti-SARS-CoV-2 Activity Spanning Variants and Host Cell Types.

Pharmaceutics
2023

Contribution of Type H Blood Vessels to Pathologic Osteogenesis and Inflammation in an Experimental Spondyloarthritis Model.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2024

Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.

Cerebellum (London, England)
2023

Rationale and design for the myocardial ischemia and transfusion (MINT) randomized clinical trial.

American heart journal
2023

The SGLT2 inhibitor empagliflozin reduces tissue sodium content in patients with chronic heart failure: results from a placebo-controlled randomised trial.

Clinical research in cardiology : official journal of the German Cardiac Society
2023

Human leukocyte antigen alleles associate with COVID-19 vaccine immunogenicity and risk of breakthrough infection.

Nature medicine
2022

Recombinant Spider Silk Bioinks for Continuous Protein Release by Encapsulated Producer Cells.

Biomacromolecules
2022

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Genetics in medicine : official journal of the American College of Medical Genetics
2022

A broad look into the future of systemic sclerosis.

Therapeutic advances in musculoskeletal disease
2022

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.

Human mutation
2022

The Clinical Utility of Soluble Serum Biomarkers in Autoimmune Pancreatitis: A Systematic Review.

Biomedicines
2022

Activin B promotes the initiation and progression of liver fibrosis.

Hepatology communications
2022

Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report.

BMC pediatrics
2022

A TNFR2-Specific TNF Fusion Protein With Improved In Vivo Activity.

Frontiers in immunology
2022

ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease.

Journal of pediatric gastroenterology and nutrition
2022

Synergistic Antiviral Activity of Pamapimod and Pioglitazone against SARS-CoV-2 and Its Variants of Concern.

International journal of molecular sciences
2022

Kyoto international consensus report on anatomy, pathophysiology and clinical significance of the gastro-oesophageal junction.

Gut
2022

Novel Budesonide Suppository and Standard Budesonide Rectal Foam Induce High Rates of Clinical Remission and Mucosal Healing in Active Ulcerative Proctitis: a Randomised, Controlled, Non-inferiority Trial.

Journal of Crohn's &amp; colitis
2023

Design of the COmbinatioN effect of FInerenone anD EmpaglifloziN in participants with chronic kidney disease and type 2 diabetes using a UACR Endpoint study (CONFIDENCE).

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2022

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.

Brain : a journal of neurology
2022

Effects of a Fully Humanized Type II Anti-CD20 Monoclonal Antibody on Peripheral and CNS B Cells in a Transgenic Mouse Model of Multiple Sclerosis.

International journal of molecular sciences
2022

Early Feeding Practices and Celiac Disease Prevention: Protocol for an Updated and Revised Systematic Review and Meta-Analysis.

Nutrients
2022

A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.

European journal of human genetics : EJHG
2022

The Coxiella burnetii T4SS effector protein AnkG hijacks the 7SK small nuclear ribonucleoprotein complex for reprogramming host cell transcription.

PLoS pathogens
2022

Efficacy and Safety of Larotrectinib in Patients With Tropomyosin Receptor Kinase Fusion-Positive Lung Cancers.

JCO precision oncology
2022

Key interactions in the trimolecular complex consisting of the rheumatoid arthritis-associated DRB1*04:01 molecule, the major glycosylated collagen II peptide and the T-cell receptor.

Annals of the rheumatic diseases
2021

Abnormal Ca2+ Signals in Reactive Astrocytes as a Common Cause of Brain Diseases.

International journal of molecular sciences
2022

Angiotensin Converting Enzyme-2 Therapy Improves Liver Fibrosis and Glycemic Control in Diabetic Mice With Fatty Liver.

Hepatology communications
2021

Type II Alexander disease with fragile X mental retardation 1 gene mutation.

Clinical neurology and neurosurgery
2021

Global, regional, and national mortality among young people aged 10-24 years, 1950-2019: a systematic analysis for the Global Burden of Disease Study 2019.

Lancet (London, England)
2021

Effect of empagliflozin on ketone bodies in patients with stable chronic heart failure.

Cardiovascular diabetology
2021

Neuropsychological Functioning in Alexander Disease: A Case Series.

Child neurology open
2021

Lung development and immune status under chronic LPS exposure in rat pups with and without CD26/DPP4 deficiency.

Cell and tissue research
2021

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal of molecular medicine (Berlin, Germany)
2021

Acute Kidney Injury in Severe COVID-19 Has Similarities to Sepsis-Associated Kidney Injury: A Multi-Omics Study.

Mayo Clinic proceedings
2021

Mesenteric Lymph Node Transplantation in Mice to Study Immune Responses of the Gastrointestinal Tract.

Frontiers in immunology
2021

Genetic insights into biological mechanisms governing human ovarian ageing.

Nature
2021

Lipoprotein(a) and Benefit of PCSK9 Inhibition in Patients With Nominally Controlled LDL Cholesterol.

Journal of the American College of Cardiology
2021

Sex differences in angiotensin II-induced hypertension and kidney injury: role of AT1a receptors in the proximal tubule of the kidney.

Clinical science (London, England : 1979)
2021

Immune-checkpoint inhibitor-associated diabetes compared to other diabetes types - A prospective, matched control study.

Journal of diabetes
2021

Mapping the human genetic architecture of COVID-19.

Nature
2021

MUC16 Is Overexpressed in Idiopathic Pulmonary Fibrosis and Induces Fibrotic Responses Mediated by Transforming Growth Factor-β1 Canonical Pathway.

International journal of molecular sciences
2021

A phase II study of the PI3K inhibitor copanlisib in combination with the anti-CD20 monoclonal antibody rituximab for patients with marginal zone lymphoma: treatment rationale and protocol design of the COUP-1 trial.

BMC cancer
2021

A conserved Zn2Cys6 transcription factor, identified in a spontaneous mutant from in vitro passaging, is involved in pathogenicity of the blackleg fungus Leptosphaeria maculans.

Fungal biology
2022

Diagnostic accuracy of non-invasive tests for advanced fibrosis in patients with NAFLD: an individual patient data meta-analysis.

Gut
2021

Two Randomized Trials of Neutralizing Antibodies to Prevent HIV-1 Acquisition.

The New England journal of medicine
2021

Cytokine-mediated induction of human xylosyltransferase-I in systemic sclerosis skin fibroblasts.

Biochemical and biophysical research communications
2021

ActRIIB:ALK4-Fc alleviates muscle dysfunction and comorbidities in murine models of neuromuscular disorders.

The Journal of clinical investigation
2021

OCT-angiography: Regional reduced macula microcirculation in ocular hypertensive and pre-perimetric glaucoma patients.

PloS one
2021

Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III.

Blood advances
2021

An advanced optical clearing protocol allows label-free detection of tissue necrosis via multiphoton microscopy in injured whole muscle.

Theranostics
2020

NTRK kinase domain mutations in cancer variably impact sensitivity to type I and type II inhibitors.

Communications biology
2020

Nebulised surfactant for the treatment of severe COVID-19 in adults (COV-Surf): A structured summary of a study protocol for a randomized controlled trial.

Trials
2020

IMU-838, a Developmental DHODH Inhibitor in Phase II for Autoimmune Disease, Shows Anti-SARS-CoV-2 and Broad-Spectrum Antiviral Efficacy In Vitro.

Viruses
2021

Myocardial Infarction in the ISCHEMIA Trial: Impact of Different Definitions on Incidence, Prognosis, and Treatment Comparisons.

Circulation
2020

Comparison of matched sibling, unrelated and haploidentical donors in hematopoietic stem cell transplantation. A real-world experience from the Argentine Group for Bone Marrow Transplantation and Cell Therapy (GATMO-TC).

Medicina
2021

The Glasgow Microenvironment Score associates with prognosis and adjuvant chemotherapy response in colorectal cancer.

British journal of cancer
2021

State-of-the-art genome inference in the human MHC.

The international journal of biochemistry &amp; cell biology
2021

Plasma levels of apelin are reduced in patients with liver fibrosis and cirrhosis but are not correlated with circulating levels of bone morphogenetic protein 9 and 10.

Peptides
2021

Rationale and design of ApoA-I Event Reducing in Ischemic Syndromes II (AEGIS-II): A phase 3, multicenter, double-blind, randomized, placebo-controlled, parallel-group study to investigate the efficacy and safety of CSL112 in subjects after acute myocardial infarction.

American heart journal
2021

Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.

Clinical genetics
2021

Protein tyrosine phosphatase nonreceptor type 2 controls colorectal cancer development.

The Journal of clinical investigation
2020

Effects of once-weekly subcutaneous semaglutide on kidney function and safety in patients with type 2 diabetes: a post-hoc analysis of the SUSTAIN 1-7 randomised controlled trials.

The lancet. Diabetes &amp; endocrinology
2020

Obinutuzumab-Induced B Cell Depletion Reduces Spinal Cord Pathology in a CD20 Double Transgenic Mouse Model of Multiple Sclerosis.

International journal of molecular sciences
2020

The EphA4 Signaling is Anti-catabolic in Synoviocytes but Pro-anabolic in Articular Chondrocytes.

Calcified tissue international
2021

Has the Affordable Care Act Been Associated with Increased Insurance Coverage and Early-stage Diagnoses of Bone and Soft-tissue Sarcomas in Adults?

Clinical orthopaedics and related research
2020

Crescentic glomerulonephritis: what's different in South Asia? A single center observational cohort study.

Wellcome open research
2021

The impact of donor type on the outcome of pediatric patients with very high risk acute lymphoblastic leukemia. A study of the ALL SCT 2003 BFM-SG and 2007-BFM-International SG.

Bone marrow transplantation
2020

Natural Products as Modulators of Sirtuins.

Molecules (Basel, Switzerland)
2021

Class switching and high-affinity immunoglobulin G production by B cells is dispensable for the development of hypertension in mice.

Cardiovascular research
2020

Relevance of inducible nitric oxide synthase for immune control of Mycobacterium avium subspecies paratuberculosis infection in mice.

Virulence
2020

Atezolizumab plus modified docetaxel-cisplatin-5-fluorouracil (mDCF) regimen versus mDCF in patients with metastatic or unresectable locally advanced recurrent anal squamous cell carcinoma: a randomized, non-comparative phase II SCARCE GERCOR trial.

BMC cancer
2020

The Effect of Biochars and Endophytic Bacteria on Growth and Root Rot Disease Incidence of Fusarium Infested Narrow-Leafed Lupin (Lupinus angustifolius L.).

Microorganisms
2020

Discovery and Differential Processing of HLA Class II-Restricted Minor Histocompatibility Antigen LB-PIP4K2A-1S and Its Allelic Variant by Asparagine Endopeptidase.

Frontiers in immunology
2020

Novel Biomarkers in Patients with Chronic Kidney Disease: An Analysis of Patients Enrolled in the GCKD-Study.

Journal of clinical medicine
2020

Development of 18F-Fluoroglycosylated PSMA-Ligands with Improved Renal Clearance Behavior.

Molecular pharmaceutics
2020

Glycochenodeoxycholate Promotes Liver Fibrosis in Mice with Hepatocellular Cholestasis.

Cells
2019

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.

Balkan journal of medical genetics : BJMG
2020

Effects of Apremilast, an Oral Inhibitor of Phosphodiesterase 4, in a Randomized Trial of Patients With Active Ulcerative Colitis.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2020

NO• /RUNX3/kynurenine metabolic signaling enhances disease aggressiveness in pancreatic cancer.

International journal of cancer
2020

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Human molecular genetics
2019

Quorum Sensing, Virulence, and Antibiotic Resistance of USA100 Methicillin-Resistant Staphylococcus aureus Isolates.

mSphere
2019

NOX2 mediates quiescent handling of dead cell remnants in phagocytes.

Redox biology
2019

Transplantation in Children and Adolescents with Acute Lymphoblastic Leukemia from a Matched Donor versus an HLA-Identical Sibling: Is the Outcome Comparable? Results from the International BFM ALL SCT 2007 Study.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
2019

Elevated Insulin and Insulin Resistance are Associated with Altered Myelin in Cognitively Unimpaired Middle-Aged Adults.

Obesity (Silver Spring, Md.)
2019

A Phase 2 Study of Galunisertib (TGF-β1 Receptor Type I Inhibitor) and Sorafenib in Patients With Advanced Hepatocellular Carcinoma.

Clinical and translational gastroenterology
2019

Do Nonsuicidal Severely Depressed Individuals with Diabetes Profit from Internet-Based Guided Self-Help? Secondary Analyses of a Pragmatic Randomized Trial.

Journal of diabetes research
2019

Heat-killed Mycobacterium tuberculosis prime-boost vaccination induces myeloid-derived suppressor cells with spleen dendritic cell-killing capability.

JCI insight
2019

Hybrid Coronary Percutaneous Treatment with Metallic Stents and Everolimus-Eluting Bioresorbable Vascular Scaffolds: 2-years Results from the GABI-R Registry.

Journal of clinical medicine
2019

RANKL inhibition improves muscle strength and insulin sensitivity and restores bone mass.

The Journal of clinical investigation
2019

Prognostic relevance of topoisomerase II α and minichromosome maintenance protein 6 expression in colorectal cancer.

BMC cancer
2019

A novel mutation in the GFAP gene expands the phenotype of Alexander disease.

Journal of medical genetics
2019

Cardiovascular outcomes and achieved blood pressure in patients with and without diabetes at high cardiovascular risk.

European heart journal
2019

MyD88 Is Required for Efficient Control of Coxiella burnetii Infection and Dissemination.

Frontiers in immunology
2019

A Phase II Randomized Study of Neoadjuvant Letrozole Plus Alpelisib for Hormone Receptor-Positive, Human Epidermal Growth Factor Receptor 2-Negative Breast Cancer (NEO-ORB).

Clinical cancer research : an official journal of the American Association for Cancer Research
2019

Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases.

Biological psychiatry
2019

Mesenchymal stem cell dysfunction in diabetes.

Molecular biology reports
2019

Influence of the surgical technique on survival in the treatment of carcinomas of the true cardia (Siewert Type II) - Right thoracoabdominal vs. transhiatal-abdominal approach.

European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
2018

Size-dependent functional response of Xenopus laevis feeding on mosquito larvae.

PeerJ
2018

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.

Acta neuropathologica communications
2019

Immunotherapy Targeting HPV16/18 Generates Potent Immune Responses in HPV-Associated Head and Neck Cancer.

Clinical cancer research : an official journal of the American Association for Cancer Research
2018

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.

American journal of medical genetics. Part A
2019

Prognostic significance of atrial fibrillation in acute decompensated heart failure with reduced versus preserved ejection fraction.

Clinical research in cardiology : official journal of the German Cardiac Society
2018

Confounding influence of tamoxifen in mouse models of Cre recombinase-induced gene activity or modulation.

Archives of toxicology
2019

Expansion of IL-23 receptor bearing TNFR2+ T cells is associated with molecular resistance to anti-TNF therapy in Crohn's disease.

Gut
2018

Mannan-induced Nos2 in macrophages enhances IL-17-driven psoriatic arthritis by innate lymphocytes.

Science advances
2018

Allogeneic Stem Cell Transplantation from HLA-Mismatched Donors for Pediatric Patients with Acute Lymphoblastic Leukemia Treated According to the 2003 BFM and 2007 International BFM Studies: Impact of Disease Risk on Outcomes.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
2018

TRPA1 channels: expression in non-neuronal murine lung tissues and dispensability for hyperoxia-induced alveolar epithelial hyperplasia.

Pflugers Archiv : European journal of physiology
2018

Mesenchymal TNFR2 promotes the development of polyarthritis and comorbid heart valve stenosis.

JCI insight
2018

Long-term follow-up of HIV-1-infected adults who received the F4/AS01B HIV-1 vaccine candidate in two randomised controlled trials.

Vaccine
2018

Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch.

Hepatology communications
2018

[Chronic heart failure in older patients : Updated national healthcare guidelines on chronic heart failure from a geriatric perspective].

Zeitschrift fur Gerontologie und Geriatrie
2018

Thyroid hormone inhibits lung fibrosis in mice by improving epithelial mitochondrial function.

Nature medicine
2017

The Overlapping Area of Non-Celiac Gluten Sensitivity (NCGS) and Wheat-Sensitive Irritable Bowel Syndrome (IBS): An Update.

Nutrients
2018

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.

Genetics in medicine : official journal of the American College of Medical Genetics
2017

Randomized comparison of the clinical outcome of single versus multiple arterial grafts: the ROMA trial-rationale and study protocol.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2017

THP-1-derived macrophages render lung epithelial cells hypo-responsive to Legionella pneumophila - a systems biology study.

Scientific reports
2017

Diabetic retinopathy: Breaking the barrier.

Pathophysiology : the official journal of the International Society for Pathophysiology
2017

Post-stroke angiotensin II type 2 receptor activation provides long-term neuroprotection in aged rats.

PloS one
2017

Increased Angiotensin II Sensitivity Contributes to Microvascular Dysfunction in Women Who Have Had Preeclampsia.

Hypertension (Dallas, Tex. : 1979)
2017

Hyperglycemia and dyslipidemia of Isabela, Galápagos, Ecuador: A pilot study of cardiovascular risk factors in an Isolated Island community.

Diabetes research and clinical practice
2017

A Temporal Proteomic Map of Epstein-Barr Virus Lytic Replication in B Cells.

Cell reports
2017

Early energy metabolism-related molecular events in skeletal muscle of diabetic rats: The effects of l-arginine and SOD mimic.

Chemico-biological interactions
2017

Prospective Study of Cetuximab, Carboplatin, and Radiation Therapy for Patients With Locally Advanced Head and Neck Squamous Cell Cancer Unfit for Cisplatin.

International journal of radiation oncology, biology, physics
2017

Concomitant Disruption of CD4 and CD8 Genes Facilitates the Development of Double Negative αβ TCR+ Peripheral T Cells That Respond Robustly to Staphylococcal Superantigen.

Journal of immunology (Baltimore, Md. : 1950)
2017

Nimodipine fosters remyelination in a mouse model of multiple sclerosis and induces microglia-specific apoptosis.

Proceedings of the National Academy of Sciences of the United States of America
2017

Soluble Urokinase-Type Plasminogen Activator Receptor Improves Risk Prediction in Patients With Chronic Heart Failure.

JACC. Heart failure
Ver todos os 393 no EuropePMC

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Daratumumab in systemic lupus erythematosus: a single-arm phase 2 trial.
    Nature communications· 2026· PMID 41629292mais citado
  2. Coramitug, a Humanized Monoclonal Antibody for the Treatment of Transthyretin Amyloid Cardiomyopathy: A Phase 2, Randomized, Multicenter, Double-Blind, Placebo-Controlled Trial.
    Circulation· 2026· PMID 41212997mais citado
  3. Differences in Prevalence and Severity of Liver Disease Between Lateral Tunnel and Extracardiac Conduit Fontan.
    JACC. Advances· 2026· PMID 41849874mais citado
  4. Variability in BIA-Derived Muscle Mass Estimates: Device Choice Impacts Diagnostic Classification.
    Nutrients· 2026· PMID 41829937mais citado
  5. Development of Radiomics Models to Predict Progression-Free Survival and Early Polymetastatic Progression in Patients With Lung Oligometastases Treated on the Single-Arm Phase II Stereotactic Ablative Radiotherapy-5 Trial.
    Clinical oncology (Royal College of Radiologists (Great Britain))· 2026· PMID 41775003mais citado
  6. Re: Chase Peng Yun Ng, Alexander Light, Sai Kalpitha Eragamreddy, et al. Five-year Outcomes for Men after Negative Magnetic Resonance Imaging (MRI) or Negative Biopsy in the RAPID MRI-directed Prostate Cancer Diagnostic Pathway. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2025.10.015.
    Eur Urol· 2026· PMID 41956860recente
  7. The dominance of large-scale phase dynamics in human cortex, from delta to gamma.
    Elife· 2026· PMID 41954599recente
  8. Four new species of Dasymallomyia Brunetti (Diptera, Limoniidae, Chioneinae) from China.
    Zookeys· 2026· PMID 41940413recente
  9. Gross anatomy of the skeleton of neonates of the Orinoco Matamata turtle (Chelus orinocensis).
    PLoS One· 2026· PMID 41920920recente
  10. Defining the Prominent Ear: Anthropometric Profile of Prominent and Normal Ears in the Arabian Peninsula.
    J Craniofac Surg· 2026· PMID 41911583recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:363722(Orphanet)
  2. MONDO:0018210(MONDO)
  3. GARD:17573(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55346030(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença de Alexander, tipo II
Compêndio · Raras BR

Doença de Alexander, tipo II

ORPHA:363722 · MONDO:0018210
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
G93.8 · Outros transtornos especificados do encéfalo
Início
Adolescent, Adult, Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5679914
EuropePMC
Wikidata
Papers 10a
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