Raras
Buscar doenças, sintomas, genes...
Distonia focal, segmentar ou multifocal
ORPHA:1866PCDT · SUSDOENÇA RARA

Distúrbio neurológico raro do movimento caracterizado por contrações musculares sustentadas de uma única região do corpo, geralmente produzindo movimentos de torção e repetitivos ou posturas ou posições anormais.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Distúrbio neurológico raro do movimento caracterizado por contrações musculares sustentadas de uma única região do corpo, geralmente produzindo movimentos de torção e repetitivos ou posturas ou posições anormais.

Pesquisas ativas
3 ensaios
46 total registrados no ClinicalTrials.gov
Medicamentos
3 registrados
INCOBOTULINUMTOXINA, LEVETIRACETAM, ABOBOTULINUMTOXINA

Tem tratamento?

3 medicamentos registrados
Ver detalhes, fases e interações →
INCOBOTULINUMTOXINALEVETIRACETAMABOBOTULINUMTOXINA

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
11.7
Europe
Início
Adult
🏥
SUS: Cobertura mínimaScore: 30%
PCDT disponível
Você se identifica com essa condição?
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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
18 sintomas
💪
Músculos
15 sintomas
😀
Face
4 sintomas
📏
Crescimento
3 sintomas
🧬
Pele e cabelo
2 sintomas
🦴
Ossos e articulações
2 sintomas

+ 29 sintomas em outras categorias

Características mais comuns

Convulsão
Coreia
Ataxia da marcha
Bruxismo
Boca aberta
Hipertrofia dos músculos do pescoço
78sintomas
Sem dados (78)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 78 características clínicas mais associadas, ordenadas por frequência.

ConvulsãoSeizure
CoreiaChorea
Ataxia da marchaGait ataxia
BruxismoBruxism
Boca abertaOpen mouth

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026195 papers
Linha do tempo
2026Hoje · 2026🧪 1998Primeiro ensaio clínico
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

7 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

PDE10AcAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10ADisease-causing germline mutation(s) inRestrito
FUNÇÃO

Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides (PubMed:10373451, PubMed:10393245, PubMed:16330539, PubMed:17389385, PubMed:27058447). Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate (PubMed:10373451, PubMed:10393245, PubMed:17389385, PubMed:27058447). May play a critical role in regulating cAMP and cGMP levels in the striatum, a region of the brain that contributes to the cont

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (2)
G alpha (s) signalling eventscGMP effects
MECANISMO DE DOENÇA

Dyskinesia, limb and orofacial, infantile-onset

An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Caudate basal ganglia
11.8 TPM
Brain Putamen basal ganglia
11.0 TPM
Brain Nucleus accumbens basal ganglia
7.5 TPM
Cérebro - Hemisfério cerebelar
6.5 TPM
Cerebelo
5.9 TPM
OUTRAS DOENÇAS (3)
striatal degeneration, autosomal dominant 2infantile-onset generalized dyskinesia with orofacial involvementchildhood-onset benign chorea with striatal involvement
HGNC:8772UniProt:Q9Y233
HPCANeuron-specific calcium-binding protein hippocalcinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity)

LOCALIZAÇÃO

Cytoplasm, cytosolMembrane

MECANISMO DE DOENÇA

Dystonia 2, torsion, autosomal recessive

A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions.

EXPRESSÃO TECIDUAL(Tecido-específico)
Brain Caudate basal ganglia
825.3 TPM
Brain Putamen basal ganglia
677.5 TPM
Brain Nucleus accumbens basal ganglia
553.9 TPM
Hipocampo
211.7 TPM
Brain Frontal Cortex BA9
179.8 TPM
OUTRAS DOENÇAS (1)
torsion dystonia 2
HGNC:5144UniProt:P84074
GNALGuanine nucleotide-binding protein G(olf) subunit alphaDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Guanine nucleotide-binding protein (G protein) involved as transducer in olfactory signal transduction controlled by G protein-coupled receptors (GPCRs) (By similarity). Contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (By similarity). Signaling by an activated GPCR promotes GDP release and GTP binding (By similarity). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (3)
Adenylate cyclase inhibitory pathwayAdenylate cyclase activating pathwayOlfactory Signaling Pathway
MECANISMO DE DOENÇA

Dystonia 25

A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Nucleus accumbens basal ganglia
45.6 TPM
Brain Caudate basal ganglia
28.9 TPM
Brain Putamen basal ganglia
21.6 TPM
Pituitária
18.9 TPM
Bladder
12.9 TPM
OUTRAS DOENÇAS (1)
dystonia 25
HGNC:4388UniProt:P38405
CIZ1Cip1-interacting zinc finger proteinCandidate gene tested inTolerante
FUNÇÃO

May regulate the subcellular localization of CIP/WAF1

LOCALIZAÇÃO

Nucleus

OUTRAS DOENÇAS (1)
dystonia 23
HGNC:16744UniProt:Q9ULV3
ANO3Anoctamin-3Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:21984732)

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (2)
Induction of Cell-Cell FusionStimuli-sensing channels
MECANISMO DE DOENÇA

Dystonia 24

A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs.

INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (1)
dystonia 24
HGNC:14004UniProt:Q9BYT9
TUBB4ATubulin beta-4A chainDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin

LOCALIZAÇÃO

Cytoplasm, cytoskeleton

VIAS BIOLÓGICAS (10)
HCMV Early EventsPKR-mediated signalingGap junction assemblyAggrephagyAssembly and cell surface presentation of NMDA receptors
MECANISMO DE DOENÇA

Dystonia 4, torsion, autosomal dominant

A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait.

EXPRESSÃO TECIDUAL(Tecido-específico)
Cérebro - Hemisfério cerebelar
988.8 TPM
Cerebelo
895.3 TPM
Brain Spinal cord cervical c-1
446.2 TPM
Brain Frontal Cortex BA9
305.6 TPM
Córtex cerebral
258.5 TPM
OUTRAS DOENÇAS (2)
torsion dystonia 4hypomyelinating leukodystrophy 6
HGNC:20774UniProt:P04350
COL6A3Collagen alpha-3(VI) chainDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Collagen VI acts as a cell-binding protein

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (1)
Collagen degradation
MECANISMO DE DOENÇA

Bethlem myopathy 1C

A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant.

OUTRAS DOENÇAS (6)
dystonia 27Ullrich congenital muscular dystrophy 1CBethlem myopathy 1Cintermediate collagen VI-related muscular dystrophy
HGNC:2213UniProt:P12111

Medicamentos e terapias

INCOBOTULINUMTOXINAPhase 3

Mecanismo: Synaptosomal nerve-associated protein 25 (SNAP-25) inhibitor

LEVETIRACETAMPhase 2

Mecanismo: Voltage-gated N-type calcium channel alpha-1B subunit blocker

ABOBOTULINUMTOXINAPhase 1

Mecanismo: Synaptosomal nerve-associated protein 25 (SNAP-25) inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

241 variantes patogênicas registradas no ClinVar.

🧬 PDE10A: GRCh38/hg38 6q25.2-27(chr6:153483970-170605209)x3 ()
🧬 PDE10A: GRCh38/hg38 6q24.2-27(chr6:144488859-170610382)x3 ()
🧬 PDE10A: NM_001385079.1(PDE10A):c.2405G>A (p.Cys802Tyr) ()
🧬 PDE10A: NM_001385079.1(PDE10A):c.1531C>G (p.His511Asp) ()
🧬 PDE10A: NM_001385079.1(PDE10A):c.994+79G>A ()
Ver todas no ClinVar

Vias biológicas (Reactome)

45 vias biológicas associadas aos genes desta condição.

cGMP effects G alpha (s) signalling events Adenylate cyclase activating pathway Adenylate cyclase inhibitory pathway Olfactory Signaling Pathway Stimuli-sensing channels Induction of Cell-Cell Fusion Translocation of SLC2A4 (GLUT4) to the plasma membrane Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane Gap junction assembly MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion Regulation of PLK1 Activity at G2/M Transition HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Prefoldin mediated transfer of substrate to CCT/TriC Formation of tubulin folding intermediates by CCT/TriC Post-chaperonin tubulin folding pathway Recycling pathway of L1 Hedgehog 'off' state Anchoring of the basal body to the plasma membrane Cargo trafficking to the periciliary membrane Intraflagellar transport RHO GTPases activate IQGAPs RHO GTPases Activate Formins COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase The role of GTSE1 in G2/M progression after G2 checkpoint AURKA Activation by TPX2 Carboxyterminal post-translational modifications of tubulin HCMV Early Events Collagen degradation Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions ECM proteoglycans NCAM1 interactions Collagen chain trimerization

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
2Fase 25
1Fase 12
·Pré-clínico15
Medicamentos catalogadosEnsaios clínicos· 3 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Distonia focal, segmentar ou multifocal

🗺️

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

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

46 ensaios clínicos encontrados, 3 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Dysfunction of α2δ4 leads to photoreceptor degeneration through disrupted synaptic mitochondria and calcium crosstalk.

Cell death &amp; disease2026 Mar 23

Este estudo revela que a disfunção da proteína α2δ4, já associada a distrofias retinianas em pacientes, causa degeneração tardia dos fotorreceptores. O artigo demonstra que a perda de α2δ4 leva a uma interrupção crítica na comunicação do cálcio e a danos nas mitocôndrias, especificamente nas sinapses dos fotorreceptores, desencadeando a morte celular. Compreender esse mecanismo sináptico é crucial para desenvolver futuras terapias que possam prevenir ou retardar a degeneração da retina, focando na homeostase do cálcio e na saúde mitocondrial.

🇧🇷 traduzido
#2

Genome-wide comparative analysis of the HSP90 gene family in four Ipomoea species and functional insights into the potentiality of IbHSP90-2 in low temperature tolerance.

Frontiers in plant science2026

O artigo científico fornecido, intitulado "Genome-wide comparative analysis of the HSP90 gene family in four Ipomoea species...", trata da identificação e análise de genes HSP90 em batata-doce e espécies relacionadas, focando na tolerância a estresses ambientais como o frio. Contrariamente ao que o início da sua solicitação sugeria (distonia), este estudo é sobre biologia vegetal. Portanto, não há informações relevantes para pacientes ou médicos relacionadas à saúde humana neste resumo.

🇧🇷 traduzido
#3

Genome-wide identification of the HSF gene family in Chinese chestnut and functional characterization of CmHSF4 under temperature stress.

Frontiers in plant science2026

O artigo científico fornecido descreve a identificação e caracterização da família de genes HSF em castanheiras-da-china (Castanea mollissima), um tópico sem relevância direta para pacientes ou médicos no contexto de doenças humanas. O estudo identificou 18 genes CmHSF, destacando o CmHSF4 como um gene candidato chave na resposta da castanheira-da-china ao estresse por alta temperatura, devido ao seu aumento drástico de expressão e envolvimento na proteção contra danos oxidativos, o que estabelece as bases para futuras pesquisas sobre resistência ao estresse térmico nesta espécie.

🇧🇷 traduzido
#4

MSCMH-Net: A multi-scale channel-mixing hybrid network for whole-brain segmentation.

Neuroscience2026 Mar 19

Este artigo descreve a MSCMH-Net, uma nova rede neural híbrida projetada para segmentar com alta precisão as diversas regiões do cérebro em exames de ressonância magnética. Essa tecnologia avançada é crucial para médicos e pesquisadores, pois permite uma avaliação quantitativa detalhada de áreas cerebrais finas, fundamental para diagnósticos mais acurados, planejamento de tratamentos e avanços na neurociência. Validada em um extenso conjunto de dados, a MSCMH-Net oferece uma ferramenta mais eficaz para compreender e monitorar a saúde cerebral.

🇧🇷 traduzido
#5

A Remarkable Tale: Increased Retinal Fluorescence Following Application of Permanent Marker Ink to Mouse Tails.

Investigative ophthalmology &amp; visual science2026 Mar 02

Este estudo em camundongos revelou que a tinta de marcadores permanentes vermelhos, ao ser ingerida (mesmo por lamber), pode ser absorvida e acumular-se temporariamente na retina e no cérebro. Isso ocorre porque o componente fluorescente Rhodamine 6G (R6G) consegue atravessar importantes barreiras biológicas, como a hematorretiniana e hematoencefálica. Para médicos e pacientes, essa descoberta levanta considerações sobre a interação do corpo com substâncias comuns e abre caminho para futuras pesquisas no direcionamento de medicamentos para o olho e o sistema nervoso central, ou na avaliação da segurança de produtos.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

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International urology and nephrology
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Dysfunction of α2δ4 leads to photoreceptor degeneration through disrupted synaptic mitochondria and calcium crosstalk.

Cell death &amp; disease
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Cureus
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Breast tumor segmentation and morphological feature-based classification in ultrasound using a two-stage U-net and SVM.

Frontiers in bioengineering and biotechnology
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Genome-wide comparative analysis of the HSP90 gene family in four Ipomoea species and functional insights into the potentiality of IbHSP90-2 in low temperature tolerance.

Frontiers in plant science
2026

Genome-wide identification of the HSF gene family in Chinese chestnut and functional characterization of CmHSF4 under temperature stress.

Frontiers in plant science
2026

Forehead dermatofibrosarcoma protuberans treated exclusively with full-thickness skin grafting: a unique case report and review of the literature.

Case reports in plastic surgery &amp; hand surgery
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Is It Policy And Not Treatment That Actually Determines Epilepsy Outcomes?

Epilepsy currents
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Application of convolutional neural networks for automated segmentation and classification in esophageal diseases.

Frontiers in medicine
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Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.

bioRxiv : the preprint server for biology
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Force-modulated structural landscape of the catch bonding F-actin crosslinker α-actinin-4.

bioRxiv : the preprint server for biology
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Evolutionary instability drives structural diversity and disease susceptibility at the 16p12.2 locus.

bioRxiv : the preprint server for biology
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Foreign Body-Associated Eikenella corrodens Aspiration Pneumonia in an Elderly Immunocompetent Adult: A Case Report.

International medical case reports journal
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Multiple opsin expression in cubozoan ocelli indicates functional redundancy.

Scientific reports
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First detection of an H5N2 subtype of Influenza A virus detected in Charadrius collaris from the Brazilian Pantanal.

Scientific reports
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Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society
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The relationship between APOL1 risk variants and with preeclampsia and fetal outcomes.

Pregnancy hypertension
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NMR investigation of the sliding motion of RNA helicase DDX3X along single-stranded RNA.

Biophysical chemistry
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Effect of 6-Month High-Impact and Resistance Exercise on Regional Strength and BMD of Spine: A Clinical Trial Combined with a Finite-Element Study.

Annals of biomedical engineering
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Projection Kernel regularization for diffusion-based multimodal remote sensing segmentation.

Scientific reports
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MSCMH-Net: A multi-scale channel-mixing hybrid network for whole-brain segmentation.

Neuroscience
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Accident; analysis and prevention
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Unsupervised detection of potentially necrotic intestinal segments using autoencoder residuals and multispectral imaging.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy
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A Remarkable Tale: Increased Retinal Fluorescence Following Application of Permanent Marker Ink to Mouse Tails.

Investigative ophthalmology &amp; visual science
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Poultry science
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Optimization of cortico-cortical spectral response analysis parameters for seizure onset zone localization.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
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FedGA: Genetic Algorithm-Guided Federated Learning for Medical Image Segmentation with Non-IID Features.

IEEE journal of biomedical and health informatics
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Channel reconstruction and dual attention dynamic fusion for remote sensing image semantic segmentation.

PloS one
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Designing Health Care Policy and Systems to Reach and Retain Those with Severe Mental Illness in HIV Prevention and Care Efforts: Insights from Ten US States.

Prevention science : the official journal of the Society for Prevention Research
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JACC. Case reports
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Risk Factors for Airway Infantile Hemangioma.

Acta paediatrica (Oslo, Norway : 1992)
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Japanese journal of clinical oncology
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Disconnected Pancreatic Duct Syndrome: A Rare Complication of Acute Pancreatitis.

Cureus
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Frontiers in bioinformatics
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MethodsX
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Attention-enhanced segmentation network for automated cerebral microbleed detection and burden assessment.

Frontiers in neuroscience
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Case Report: Fatal Streptococcus pyogenes infection secondary to closed femoral fracture.

Frontiers in medicine
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Unilateral pulmonary oedema caused by eccentric mitral regurgitation-multimodality evidence of mechanism and reversal after transcatheter edge-to-edge repair: a case report.

European heart journal. Case reports
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Distinct eccentricity-driven dynamics in foveal and extrafoveal visual crowding.

iScience
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Scalable Polymer Composites Enhanced by Trace-Amount Polymer Semiconductor for High-Performance Capacitive Energy Storage at 250°C.

Advanced materials (Deerfield Beach, Fla.)
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Regenerative Nodule as a Diagnostic Dilemma in the Neonate With Acute Liver Failure and a Focal Liver Lesion.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
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Active chain spirograph: Dynamic patterns formed in extensible chains due to follower activity.

Physical review. E
2026

Dual-branch attention network with deep split convolution and multi-dimensional transformers for medical image segmentation.

Scientific reports
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Real-world unified denoising for multi-organ fast MRI: a large-scale prospective validation.

NPJ digital medicine
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Task-specific compensatory joint control strategies in adolescent idiopathic scoliosis during dynamic balance tasks.

Scientific reports
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Crisis-Driven Autonomization of Pediatric Liver Procurement and Implantation During COVID-19: A Transition From International Support to Local Execution.

Pediatric transplantation
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Beyond the tear: the enduring role of aortic pathology in the era of genomic medicine.

Open heart
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Medical image analysis
2026

Automatic prompt-guided incremental fine-tuning for offset detection in radiotherapy patient positioning.

Physics in medicine and biology
2026

Intraspinal Microstimulation of Dorsolateral Funiculus for Coordinated Bladder Control.

IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society
2026

Who is Afraid of the Gallbladder? Case Series of Unmitigated Pericholecystic Microwave Ablations of Liver Tumours with Pictorial Review.

Cardiovascular and interventional radiology
2026

Extensive Retrograde Dissection After Intravascular Lithotripsy Balloon Rupture: The Path of Least Resistance.

JACC. Case reports
2026

Postinjury Carnosine Treatment Prevents Neurotrophic Factor Decline in Denervated Muscle and Spinal Cord After Traumatic Injury.

The European journal of neuroscience
2026

Case Report: A case of diffuse midline glioma, H3 K27-altered presenting with long-segment spinal cord lesions.

Frontiers in oncology
2025

CMNet: an asymmetric dual-branch network for accurate cotton segmentation.

Frontiers in plant science
2026

A Decade-Long Journey of Steroid-Dependent IgA Nephropathy with Minimal Change Disease from Immunosuppressants to Rituximab and then to Obinutuzumab: A Case Report.

Case reports in nephrology and dialysis
2026

Compensatory "rolling-like" tongue motion after circumferential tongue necrosis without reconstruction: A functional adaptation phenomenon.

Journal of oral biology and craniofacial research
2026

A comparison of dimensionality reduction approaches for pre-treatment PSMA-PET/CT radiomics in prostate adenocarcinoma outcome prediction.

Radiation medicine and protection
2026

Successful use of obinutuzumab in focal segmental glomerulosclerosis with inadequate response to rituximab: a case report.

Frontiers in nephrology
2026

Adaptive lightweight mask R-CNN model for underwater debris instance segmentation and classification towards sustainable marine waste management.

Scientific reports
2026

Automated phenotyping of mammary gland tissues using computer vision systems.

Journal of dairy science
2026

PDAFormer 3+: A full-scale connected modified transformer with parallel dual attention for 3D medical image segmentation.

Artificial intelligence in medicine
2026

ACE-ProtoNet: Adaptive covariance eigen-gate and uncertainty-aware prototype learning for coronary artery segmentation.

Medical image analysis
2026

A solvent-topology perspective on hydrophobic aggregation.

Soft matter
2025

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

Frontiers in medicine
2026

Quantitative Assessment of the Extent of Retinal Vascularization in Retinopathy of Prematurity.

Ophthalmology science
2026

A single cell atlas of mouse podocytes upon injury identifies kidney zone-dependent responses.

bioRxiv : the preprint server for biology
2026

MG-3D: Multi-grained knowledge-enhanced vision-language pre-training for 3D medical image analysis.

Medical image analysis
2026

Deep learning algorithms for license plate recognition: A review.

Neural networks : the official journal of the International Neural Network Society
2026

Double blind Fourier holography for high-precision wavefront sensing in segmented mirror telescopes.

Optics express
2026

Personalized 3D-Printed Finger Splints Derived from CT Data Incorporating Multi-Drug Bilayer Nanofiber Delivery Systems.

AAPS PharmSciTech
2026

Linear Interstitial Keratitis - A Retrospective Chart Review of a Rare Entity.

Klinische Monatsblatter fur Augenheilkunde
2026

A lightweight and robust method for electrocardiogram anomaly detection and localization using multi-scale masked autoencoder.

PloS one
2026

WAVY OBLONG RETROGRADE MOVING SEGMENTS (WORMS) INTRAVENOUS FLUORESCEIN ANGIOGRAPHIC FINDING IN A NEONATE WITH RETINOPATHY OF PREMATURITY.

Retinal cases &amp; brief reports
2026

Assessing the cervical canal area in multiple sclerosis with spinal cord sagittal 2D T2-weighted sequences.

Magma (New York, N.Y.)
2026

Inhibition of MAFB and PI3K/AKT Signaling for Hereditary FSGS with Multicentric Carpotarsal Osteolysis.

Journal of the American Society of Nephrology : JASN
2026

Kidney Tumor Segmentation With a Multistage Adaptive Boundary-Aware Network.

Annals of the New York Academy of Sciences
2025

Visualization analysis of internal defects in coatings based on terahertz imaging technology.

Applied optics
2026

High-precision reconstruction algorithm for scanning white light interferometry based on region-directed high-density interpolation.

Applied optics
2026

High-precision detection of wheel dimensions and tread wear using stereo vision and advanced 3D measurement algorithms for railway safety.

Applied optics
2025

Cross-modal collaborative optimization for semantic segmentation of RGB-T power equipment images.

Applied optics
2026

Weld seam recognition algorithm based on a fast point cloud plane fitting method.

Journal of the Optical Society of America. A, Optics, image science, and vision
2026

Co-focus control of segmented primary mirror telescopes based on segmented mirror pose detection.

Applied optics
2026

Successful Long-Term Use of Isavuconazole in a Tacrolimus-Treated Japanese Kidney Transplant Recipient With Disseminated Cryptococcosis and Probable Invasive Aspergillosis.

Cureus
2026

From local production to global consumption: Assessing the carbon footprints of Chinese cities in global value chains.

PNAS nexus
2026

Segmental distribution and influencing factors of thoracolumbar osteoporotic vertebral compression fracture.

Journal of orthopaedic surgery and research
2026

A novel hybrid model of simplified and external attention coupled with enhanced CNN for medical image segmentation.

Scientific reports
2026

Oligomerization-competent PIF4 drives thermomorphogenesis through functional redundancy in transactivation and DNA binding.

Nature communications
2026

Identification, characterization, and expression profiling of genes encoding tubby-like proteins in rice exposed to realistic environmental contamination of anilofos and bentazone.

Journal, genetic engineering &amp; biotechnology
2026

Preparation of nanofibrous membrane-covered saccule gastric tubes and their treatment of radiation esophagitis.

Acta biomaterialia
2026

AortaExplorer: AI-driven analysis of the aorta in CT images.

Medical &amp; biological engineering &amp; computing
2026

Unveiling glomerulonephritis in the Pacific: a Fijian cohort study.

Journal of nephrology
2026

Diffuse large B-cell lymphoma as a rare cause of small bowel obstruction: case report and literature review.

International journal of surgery case reports
2026

Exsanguinating jejunal Dieulafoy's hemorrhage: how failed embolization guided life-saving resection - a case report.

International journal of surgery case reports
2026

Spatially resolved single-cell-based histocytomorphometry for growth plate analysis across multiple species.

Journal of orthopaedic translation
2026

Proteomics and Metabolomics-Based Investigation of Local Microenvironmental Changes in Sensitized Acupoint Compared to Non-Sensitized Point Among Patients with Chronic Atrophic Gastritis: A Cross-Sectional Study Protocol.

Journal of pain research
2026

Bridging the Gap: A Case of Unique Anterior Segment Optical Coherence Tomography Presentation of Retrocorneal Membrane and Fibrous Bridging After Birth-Related Descemet's Membrane Detachment.

Cureus
2026

Epicardial adipose tissue radiomic features from pre-procedural CT to predict atrial fibrillation recurrence after catheter ablation for pulmonary vein isolation.

Frontiers in cardiovascular medicine
2026

Genome-wide analysis of the GPAT gene family in wheat and the potential roles of TaGPAT58 and its homologs in male reproductive development.

Frontiers in plant science
2026

Screening of diapause-associated genes and characterization of Cyp302a1 in Calliptamus italicus (Orthoptera: Acrididae) eggs.

International journal of biological macromolecules
2026

Localizing the epileptogenic zone using deep learning and neuroimaging: A systematic review.

Seizure
2026

Few-shot video object segmentation in X-ray angiography using local matching and spatio-temporal consistency loss.

Neural networks : the official journal of the International Neural Network Society
2026

ROBUST-MIPS: A Combined Skeletal Pose and Instance Segmentation Dataset for Laparoscopic Surgical Instruments.

Scientific data
2026

Now You See Me: Visualizing nuclear complexity by selective staining.

Methods (San Diego, Calif.)
2026

Prognostic value of end-to-end deep learning assessment of myocardial scar and microvascular obstruction on late gadolinium enhancement cardiovascular magnetic resonance.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
2026

MyoClass: A modular multimodal auto-classification system for myocardial tissue characterization.

The international journal of cardiovascular imaging
2026

Self-Improved LeNet and Modified SegNet for Alzheimer's Disease Classification using MRI.

The International journal of neuroscience
2026

Arterial spin labeling performs comparably to 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography for presurgical evaluation in pediatric lesional epilepsy.

Epilepsia
2026

Comprehensive Analysis of the Poplar DREB A4 Subfamily and the Role of PtrDREB4 in Response to Drought Stress.

Plants (Basel, Switzerland)
2026

Genomic and Functional Analysis of the ALOG Gene Family in Dioscorea alata.

Plants (Basel, Switzerland)
2026

A Novel CNN-ViT Model with Cascade Upsampling for Efficient Crack Segmentation.

Sensors (Basel, Switzerland)
2026

Vision-Based Continuous Robust LOS Angle Measurement with Seamless Parameter Adaptation for Approaching a Spacecraft Component.

Sensors (Basel, Switzerland)
2026

Bridge Points Guided Neural Motion Planning in Complex Environments with Narrow Passages.

Sensors (Basel, Switzerland)
2026

A Depth-Aware HGNN Method and Its Application in Anomaly Detection and Correction of Sparse Ocean Sensor Data.

Sensors (Basel, Switzerland)
2026

Design and Error Analysis of an Optical Measurement System for the Wavefront of Large-Aperture Segmented Mirror.

Sensors (Basel, Switzerland)
2026

A Multi-Scale Global Fusion-Based Method for Surface Fissure Extraction from UAV Imagery.

Sensors (Basel, Switzerland)
2026

Genome-Wide Identification and Expression Analysis of the GRF Gene Family in Gossypium hirsutum L.

International journal of molecular sciences
2026

Glycogen Synthase Kinase 3 (GSK3) Gene Family in Glycine max Under the Effect of Manganese Stress.

International journal of molecular sciences
2026

Road Marking Distress Detection and Assessment Based on UAV Imagery.

Materials (Basel, Switzerland)
2026

Contrast-Free Myocardial Infarction Segmentation with Attention U-Net.

Diagnostics (Basel, Switzerland)
2026

Epithelial Thickness Changes After Descemet Membrane Endothelial Keratoplasty (DMEK): An Observational Study.

Journal of clinical medicine
2026

The Great Masquerader: Vasospastic Angina Mimicking Left Main Coronary Artery Disease.

Journal of clinical medicine
2026

Scalable analysis of whole slide spatial proteomics with Harpy.

Bioinformatics (Oxford, England)
2026

Single-photon emission computed tomography functional liver imaging to facilitate reirradiation for liver malignancies: A phase I trial.

JHEP reports : innovation in hepatology
2026

CT imaging is a feasible method for the preoperative prediction of the main pathologic response after neoadjuvant therapy for locally advanced esophageal squamous cell carcinoma.

Updates in surgery
2026

Genome-Wide Analysis of the TIFY Gene Family in Litchi (Litchi chinensis Sonn.): Identification and Expression Profiling.

Biology
2026

Shared genetic architecture between Parkinson's disease and self-reported sleep-related traits implicates the MAPT locus on chromosome 17.

Sleep advances : a journal of the Sleep Research Society
2026

Spatial distribution of spinal cord fMRI activity with electrocutaneous stimulation.

medRxiv : the preprint server for health sciences
2026

Kidney-Sparing Approaches in Upper Tract Urothelial Cancer: A Narrative Review.

Cureus
2026

Multiple Evanescent White Dot Syndrome After mRNA COVID-19 Vaccination.

Cureus
2025

Deep learning-based detection and segmentation of osseous metastatic prostate cancer lesions on computed tomography.

European journal of radiology artificial intelligence
2026

Case Report: Management of cervical intramedullary spinal cord metastasis from NSCLC with a literature review.

Frontiers in surgery
2026

Validated semi-supervised early and accurate screening for anterior segment diseases: a 3PM-guided conceptual and technological innovation.

The EPMA journal
2026

Case Report: Delayed gastrointestinal structural complications requiring surgery following massive paint thinner ingestion in an adult.

Frontiers in toxicology
2026

Recurrence Rate Following Breast Conservation Surgery: A Retrospective Cohort Study.

The breast journal
2026

Predictive modeling for early diagnosis of dementia using sequential data analysis and data mining.

Scientific reports
2026

The role of radiologists in the era of oncoplasty.

Radiologia
2026

Projection-based tokenization with Pseudo feature learning for ovarian lesion segementation in ultrasound images.

Neural networks : the official journal of the International Neural Network Society
2026

3-Dimensional quantification of ischemic brain injury in post-cardiac arrest patients with hypoxic-ischemic brain injury.

Resuscitation
2026

Structural and functional investigation of RD3-GCAP1 interaction in retinal photoreceptors under normal and disease conditions.

International journal of biological macromolecules
2026

Point positioning and counting network: A deep learning-based method for automatic axon counting.

Experimental eye research
2026

Automatic deep learning-based segmentation of cornea and lens in 2D OCT images of rabbit eyes.

Experimental eye research
2026

Noninvasive Assessment of Left Ventricular Activation Delay for Identifying Cardiac Resynchronization Therapy Responders Using Ultra-High-Frequency ECG.

Heart rhythm
2026

Ophthalmic manifestations in preterm children without retinopathy of prematurity: A review.

Survey of ophthalmology
2026

Impact of genomic selection on genetic diversity in 5 local European cattle breeds.

Journal of dairy science
2026

Nuclear Medicine Imaging for Spinal Pain in the Pre- and Postoperative Setting.

Seminars in musculoskeletal radiology
2026

[Very accelerated partial breast irradiation (VAPBI) with high-dose-rate interstitial brachytherapy following breast- conserving surgery of low-risk breast cancer patients].

Magyar onkologia
2026

Bilateral Sharpness-Aware Minimization for Flatter Minima.

IEEE transactions on neural networks and learning systems
2026

T-Rex2++: Towards Generic Object Perception Via Text-Visual Prompt Synergy.

IEEE transactions on pattern analysis and machine intelligence
2026

NRSeg: Noise-Resilient Learning for BEV Semantic Segmentation via Driving World Models.

IEEE transactions on image processing : a publication of the IEEE Signal Processing Society
2026

Tumor morphology on CT radiomics is largely driven by the local anatomical environment, not the primary tumor type.

European radiology experimental
2026

Aortic Root Thrombosis With Multivessel Coronary Embolism Following Left Ventricular Assist Device Implantation.

JACC. Case reports
2026

IoT-based Stomach abnormality detection via hybrid MDCNN-Bi-LSTM architecture with statistical and texture features.

Informatics for health &amp; social care
2026

Ionic-content-driven restructuring of spirobisindane ionene networks: implications for mechanics, self-healing, and gas transport.

Soft matter
2026

Microphase-Separated Elastomers Enable Synergistic Dispersion and Coalescence Control in Conductive Pastes for Fine Printing.

Advanced materials (Deerfield Beach, Fla.)
2026

Short Segments of Electrospun Nanofibers Loaded with Curcumin Can Protect the Cells in Spheroids against Oxidative Stress.

ACS applied nano materials
2026

Catheter-Based Focal Hypothermia With Endovascular Reperfusion in Acute Anterior Circulation Large Artery Occlusion Stroke (CHILL-ART): A Randomized Controlled Trial Protocol.

Stroke (Hoboken, N.J.)
2026

Utilizing 3D Slicer for pulmonary bronchovascular anatomy reconstruction: a practical workflow and case examples.

Journal of thoracic disease
2026

Developing a segmentation cascade deep learning network based on automated prompts.

Quantitative imaging in medicine and surgery
2026

Automated segmentation and quantitative measurement of cervical nerves in ultrasound images using an SZJ-SEG-based deep learning framework.

Quantitative imaging in medicine and surgery
2026

The life-saving role of intraluminal clot tamponade in contained rupture of abdominal aortic aneurysm following low-impact trauma: a case report.

International journal of surgery case reports
2026

The Topographical, Sensory, and Temporal Characteristics of Pain in Parkinson's Disease: A Cross-Sectional Survey.

Pain practice : the official journal of World Institute of Pain
2026

Fifteen-minute consultation: Integrated child health: Part 1 - Why integrated care matters.

Archives of disease in childhood. Education and practice edition
2026

Anatomical Coordinates for Adductor Canal Block: Targeting Saphenous Nerve and Nerve to Vastus Medialis.

Acta anaesthesiologica Scandinavica
2026

Ventral Spinal Cord Displacement as a Cause of Thoracic Myelopathy: A Case Series of Nine Patients with Special Consideration of Magnetic Resonance Imaging Findings.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2026

Patch-level colorimetric quantification of coral bleaching for marine pollution monitoring using standardized CoralWatch references.

Marine pollution bulletin
2026

Evaluation of the relationship between the severity of interstitial fibrosis in diagnostic renal biopsies and disease progression in primary glomerular diseases.

Nephrologie &amp; therapeutique
2026

Tomographic and Biomechanical Stability of the Non-operated Eye in Asymmetric Keratoconus with Unilateral Intracorneal Ring Segment Implantation.

Ophthalmology and therapy
2026

Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.

JAMA network open
2026

Echocardiographic Strain Analysis Compared With Assessment of Fibrosis by Cardiac Magnetic Resonance in the Evaluation of Chagas Cardiomyopathy.

Echocardiography (Mount Kisco, N.Y.)
2026

Efficacy of 1L PEG Ascorbate vs. Sodium Picosulfate with Magnesium Citrate Bowel Preparations for Capsule Colonoscopy and Pan-intestinal Capsule Endoscopy: A Prospective Study.

Clinical and translational gastroenterology
2026

Hybrid boat-shaped and tubularized bovine patch conduit: A salvage solution for arteriovenous fistula creation.

The journal of vascular access
2026

Transforaminal endoscopic discectomy with temporary percutaneous pedicle screw fixation as a fusion-sparing approach for giant recurrent L4/5 disc herniation and iatrogenic pars fracture in a young female: a case report.

Journal of spine surgery (Hong Kong)
2026

Why Does DNA Methylation Accumulate at CpG Loci?: Sequential Analysis of Cdkn2a/p16Ink4a Gene Methylation in a Rat Renal Tumor Model.

Acta histochemica et cytochemica
2026

Convolutional neural networks for prostate cancer detection, classification, and segmentation: A systematic review and bibliometric analysis.

European journal of radiology open
2026

A hybrid deep boosting framework with adaptive label stabilization for SEM-based porosity estimation in fly-ash cement mortar.

Frontiers in artificial intelligence
2026

Seat Belt Aorta in a Paediatric Patient: Conservative Management with Eight Year Follow Up to Adulthood.

EJVES vascular forum
2026

Incidental Visceral Peritoneal and Hepatic Sarcoidosis During Routine Laparoscopic Appendectomy: A Case Report and Implications for Laparoscopic Entry.

Cureus
2026

Increased susceptibility and volume reduction in deep brain nuclei in primary orthostatic tremor.

BMJ neurology open
2026

Slipping Through the Chasm of Multicenter Hand-offs-Rare Incidence of Nintedanib Induced Renal Failure: Case Report.

Journal of community hospital internal medicine perspectives
2026

Explaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL.

bioRxiv : the preprint server for biology
2026

The immune anatomy of the small intestine facilitates regulatory responses.

Frontiers in immunology
2026

Efficacy of Percutaneous Kyphoplasty in the Treatment of Kümmell's Disease and Osteoporotic Vertebral Compression Fractures: A Clinical Comparative Study.

Orthopaedic surgery
2026

WEViT: weight-entangled vision transformers with class-specific attention for weakly supervised semantic segmentation.

Neural networks : the official journal of the International Neural Network Society
2026

MRI Manifestations of Facial Paralysis Following Retroauricular Hyaluronic Acid Injection.

Aesthetic plastic surgery
2026

Late onset nipple recurrence of borderline phyllodes after nipple-sparing mastectomy.

BMJ case reports
2026

Emergence of helical structures in weakly confined, semiflexible, charged polymers.

Journal of physics. Condensed matter : an Institute of Physics journal

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Doenças relacionadas

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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. Dysfunction of &#x3b1;2&#x3b4;4 leads to photoreceptor degeneration through disrupted synaptic mitochondria and calcium crosstalk.
    Cell death &amp; disease· 2026· PMID 41872139mais citado
  2. Genome-wide comparative analysis of the HSP90 gene family in four Ipomoea species and functional insights into the potentiality of IbHSP90-2 in low temperature tolerance.
    Frontiers in plant science· 2026· PMID 41868528mais citado
  3. Genome-wide identification of the HSF gene family in Chinese chestnut and functional characterization of CmHSF4 under temperature stress.
    Frontiers in plant science· 2026· PMID 41868511mais citado
  4. MSCMH-Net: A multi-scale channel-mixing hybrid network for whole-brain segmentation.
    Neuroscience· 2026· PMID 41864321mais citado
  5. A Remarkable Tale: Increased Retinal Fluorescence Following Application of Permanent Marker Ink to Mouse Tails.
    Investigative ophthalmology &amp; visual science· 2026· PMID 41841649mais citado
  6. Genome-wide identification of the FAD gene family in Fragaria nilgerrensis reveals distinct roles of two FnFAD3 genes in peach-like aroma formation.
    Genes Genomics· 2026· PMID 41870845recente
  7. Timing of surgery and predictors of canal reduction after short-segment fixation for thoracolumbar burst fractures.
    Eur J Trauma Emerg Surg· 2026· PMID 41870553recente
  8. TL-TransUNet: An Improved Lightweight Semantic Segmentation Model of Macular Edema Lesions in Retinal OCT Images.
    Big Data· 2026· PMID 41870285recente
  9. Dietary energy level modulates cecal microbiota to influence amino acid composition of local chicken meat.
    Microbiol Spectr· 2026· PMID 41869809recente
  10. O-to-H Flap Reconstruction of a Central Forehead Defect Following Basosquamous Carcinoma Excision: A Case Report and Literature Review.
    Cureus· 2026· PMID 41869212recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1866(Orphanet)
  2. MONDO:0015990(MONDO)
  3. Distonia e Espasticidade(PCDT · Ministério da Saúde)
  4. GARD:18749(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q1428695(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

Distonia focal, segmentar ou multifocal
Compêndio · Raras BR

Distonia focal, segmentar ou multifocal

ORPHA:1866 · MONDO:0015990
🇧🇷 Brasil SUS
Geral
Prevalência
1-5 / 10 000
Herança
Autosomal dominant
Ensaios
3 ativos
Medicamentos
3 registrados
Início
Adult
Prevalência
11.7 (Europe)
MedGen
UMLS
C5680914
Repurposing
1 candidato
procyclidineacetylcholine receptor antagonist
Wikidata
Wikipedia
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