Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Hybrid endometrial-derived hydrogel and human endometrial organoids synergize for uterine regeneration in an immunocompetent murine model.

Establishing Diagnostic and Differential Diagnostic Criteria for Amyotrophic Lateral Sclerosis.

Fatal West Nile Encephalomyelitis in a Young Woman with Hypoparathyroidism and Sjögren's Syndrome. Molecular Insights into Viral Neuro-Invasivity.

Pathogenicity of Porcine reproductive and respiratory syndrome virus in the reproductive system of female piglets: Pathological damage to the uterine horns and developmental arrest.

Human Mutant Dynactin Subunit 1 Causes Profound Motor Neuron Disease Consistent with Possible Mechanisms Involving Axonopathy, Mitochondriopathy, Protein Nitration, and T-Cell-Mediated Cytolysis.

Cytogenetic Abnormalities in Pediatric Myelodysplastic Syndrome: Insights on the Disease Biology and Impact on Leukemic Evolution.

Epidemiology and management of malignancies in patients with inborn errors of immunity-An ESID registry study of 19,959 patients.

Limited Utility for Head Ultrasounds in the Evaluation of Tuberous Sclerosis Complex.

Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series.

Intermittent Hypoxia Triggers Glial Cell Activation, GluN2B Receptor Upregulation and Hyperalgesia in a Mouse Model of Sleep Apnea.

BDNF/TrkB signaling pathway and WDR neurons: Core factors inducing central sensitization of neuropathic pain.

Arthrogryposis and axonopathy in the spinal cord in offspring of beef cattle grazing regrowth Sorghum spp. in Brazil.

The evolving genetic landscape of neuromuscular fetal akinesias.

Longitudinal clinical and imaging analysis of hydrocephalus in a single-center study in 57 patients with mucopolysaccharidosis type IH (Hurler syndrome).

Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.

Clinical progression of a case of toe-tip necrosis syndrome in a feedlot steer.

CaMKIIα-NpHR-Mediated Optogenetic Inhibition of DRG Glutamatergic Neurons by Flexible Optic Fiber Alleviates Chronic Neuropathic Pain.

Treatment with Punica granatum var. pleniflora Inhibits Postoperative Adhesion Formation in a Rat Uterine Horn Adhesion Model.

Electroacupuncture Neural Stimulation Mitigates Bladder Dysfunction and Mechanical Allodynia in Cyclophosphamide Induced Cystitis through Downregulation of the BDNF-TrkB Signaling Pathway.

Transgenic mice with a global depletion of toll-like receptor type 4 are largely protected from peripheral and central posttraumatic neuroinflammation.

Potentiation of visualized exosomal miR-1306-3p from primary sensory neurons contributes to chronic visceral pain via spinal P2X3 receptors.

Deep brain stimulation of the hypothalamic region: a systematic review.

Influence of HLA-G 3' Untranslated Region Haplotypes and SNP +3422 Gene Variants as Host Genetic Factors on the Outcomes of SARS-CoV-2 Infection During Acute and Post-Acute Phases in a German Cohort.

Genetics of constant and severe pain in the NAPS2 cohort of recurrent acute and chronic pancreatitis patients.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Role of mitochondrial dysfunction and biogenesis in fibromyalgia syndrome: Molecular mechanism in central nervous system.

Inflammatory subphenotypes previously identified in ARDS are associated with mortality at intensive care unit discharge: a secondary analysis of a prospective observational study.

[Adult-onset COVID-19-associated Fulminant Acute Encephalopathy with Elevated Cerebrospinal Fluid Interleukin-8: A Case Report].

Repeated cold stress, an animal model for fibromyalgia, elicits proprioceptor-induced chronic pain with microglial activation in mice.

Neuroinflammation in the Dorsal Root Ganglia and Dorsal Horn Contributes to Persistence of Nociceptor Sensitization in SIV-Infected Antiretroviral Therapy-Treated Macaques.

Intrathecal umbilical cord mesenchymal stem cells injection alleviates neuroinflammation and oxidative stress in the cyclophosphamide-induced interstitial cystitis rats through the Sirt1/Nrf2/HO-1 pathway.

Amyotrophic lateral sclerosis.

Atypical Presentation of Tangier Disease-Expanding the Clinical Spectrum.

Prolonged indoleamine 2,3-dioxygenase-2 activity and associated cellular stress in post-acute sequelae of SARS-CoV-2 infection.

Delayed radiation-induced motor neuron syndrome: A case report.

Peripherin is a biomarker of axonal damage in peripheral nervous system disease.

Increased circulating fibronectin, depletion of natural IgM and heightened EBV, HSV-1 reactivation in ME/CFS and long COVID.

A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

Immunological fingerprint in coronavirus disease-19 convalescents with and without post-COVID syndrome.

CXCL13 contributes to chronic pain of a mouse model of CRPS-I via CXCR5-mediated NF-κB activation and pro-inflammatory cytokine production in spinal cord dorsal horn.

Feasibility study of busulfan, fludarabine, and thiotepa conditioning regimen for allogeneic hematopoietic stemcell transplantationfor children and young adults with nonmalignant disorders.

Ethics in pre-ART genetics: a missed X-linked Menkes disease case.

Activation of the High-Affinity Choline Transporter 1 in the Spinal Cord Relieves Stress-Induced Hyperalgesia.

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.

Modeling long QT syndrome type 2 on-a-chip via in-depth assessment of isogenic gene-edited 3D cardiac tissues.

The effect of Nateglinide and Octreotide on follicular morphology and free radical scavenging system in letrazole-induced rat model of PCOS.

Human umbilical cord platelet-rich plasma to treat endometrial pathologies: methodology, composition and pre-clinical models.

Characterisation of eight cattle with Swyer syndrome by whole-genome sequencing.

Acute Flaccid Paralysis in Australian Children from 2007 to 2017.

Motor neuron survival is associated with reduced neuroinflammation and increased autophagy after brachial plexus avulsion injury in aldose reductase-deficient mice.

Long-term cellular immune response in immunocompromised unvaccinated COVID-19 patients undergoing monoclonal antibody treatment.

[Recurrent SARS-CoV-2 infections in immunodeficiency].

Deep Compartment Syndrome Without Myonecrosis: A Case Report on a Rare Complication of Sickle Cell Disease.

SOGC Guideline Retirement Notice No. 2.

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel.

Pronociceptive autoantibodies in the spinal cord mediate nociceptive sensitization, loss of function, and spontaneous pain in the lumbar disk puncture model of chronic back pain.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.

Cellular and Humoral Immunity after the Third Vaccination against SARS-CoV-2 in Hematopoietic Stem-Cell Transplant Recipients.

Genetic and methylation profiles distinguish benign, malignant and spitzoid melanocytic tumors.

Electroacupuncture Ameliorates Mechanical Allodynia of a Rat Model of CRPS-I via Suppressing NLRP3 Inflammasome Activation in Spinal Cord Dorsal Horn Neurons.

Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1.

Pentraxin-3 in the Spinal Dorsal Horn Upregulates Nectin-1 Expression in Neuropathic Pain after Spinal Nerve Damage in Male Mice.

Hedgehog signaling plays a crucial role in hyperalgesia associated with neuropathic pain in mice.

Extracellular vesicles derived from mesenchymal stem cells alleviate neuroinflammation and mechanical allodynia in interstitial cystitis rats by inhibiting NLRP3 inflammasome activation.

Activation of translocator protein alleviates mechanical allodynia and bladder dysfunction in cyclophosphamide-induced cystitis through repression of BDNF-mediated neuroinflammation.

Collapsing Focal Segmental Glomerulosclerosis and Acute Kidney Injury Associated With Chimeric Antigen Receptor T-Cell (CAR-T) Therapy: A Case Report.

Motor neuron pathology in CANVAS due to RFC1 expansions.

Lactobacillus rhamnosus GG attenuates the pathology of Chlamydial muridarium in the upper genital tract in mice.

Targeting GATA1 and p2x7r Locus Binding in Spinal Astrocytes Suppresses Chronic Visceral Pain by Promoting DNA Demethylation.

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

Neurochondrin immunoglobulin G - Associated myelopathy - Ataxia syndrome.

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes.

Calcineurin Regulates Synaptic Plasticity and Nociceptive Transmission at the Spinal Cord Level.

[Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene].

Outcomes in Hematopoietic Stem Cell Transplantation for Congenital Amegakaryocytic Thrombocytopenia.

Notch1 Signaling Contributes to Mechanical Allodynia Associated with Cyclophosphamide-Induced Cystitis by Promoting Microglia Activation and Neuroinflammation.

Long-Term SARS-CoV-2 Specific Immunity Is Affected by the Severity of Initial COVID-19 and Patient Age.

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19.

Spread of vimentin-immunoreactive cells within the plaque-like lesion in the spinal anterior horn of a patient with post-poliomyelitis syndrome.

Predominance of the SARS-CoV-2 Lineage P.1 and Its Sublineage P.1.2 in Patients from the Metropolitan Region of Porto Alegre, Southern Brazil in March 2021.

Bioengineered endometrial hydrogels with growth factors promote tissue regeneration and restore fertility in murine models.

Blockade of BK channels attenuates chronic visceral hypersensitivity in an IBS-like rat model.

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.

Nerve Conduction Study/Electromyography: Common Neuropathies and Considerations for Patients with Polio.

Demystifying the spontaneous phenomena of motor hyperexcitability.

LMX1B-associated nephropathy that showed myelin figures on electron microscopy.

SARS-CoV-2 infection paralyzes cytotoxic and metabolic functions of the immune cells.

Microglia and Inhibitory Circuitry in the Medullary Dorsal Horn: Laminar and Time-Dependent Changes in a Trigeminal Model of Neuropathic Pain.

Serum neurofilament light chain (sNfL) values in a large cross-sectional population of children with asymptomatic to moderate COVID-19.

Differential Activation of Colonic Afferents and Dorsal Horn Neurons Underlie Stress-Induced and Comorbid Visceral Hypersensitivity in Female Rats.

Adhesion G protein-coupled receptor VLGR1/ADGRV1 regulates cell spreading and migration by mechanosensing at focal adhesions.

Convalescent plasma treatment of critically ill intensive care COVID-19 patients.

Lower motor neuron signs as part of the clinical spectrum of Creutzfeldt-Jakob disease: A histopathological correlation.

The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.

Altered supraspinal motor networks in survivors of poliomyelitis: A cortico-muscular coherence study.

Cellular Immunity in COVID-19 Convalescents with PCR-Confirmed Infection but with Undetectable SARS-CoV-2-Specific IgG.

Predisposition of Neonatal Maternal Separation to Visceral Hypersensitivity via Downregulation of Small-Conductance Calcium-Activated Potassium Channel Subtype 2 (SK2) in Mice.

Autoantibodies against type I IFNs in patients with life-threatening COVID-19.

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Eight pillars of oncorheumatology: Crossroads between malignancies and musculoskeletal diseases.

Flail arm syndrome mimic caused by hemosiderin deposition in the anterior horn.

Anti-complement C5 therapy with eculizumab in three cases of critical COVID-19.

The loss of STAT3 in mature osteoclasts has detrimental effects on bone structure.

Deepening the Mechanisms of Visceral Pain Persistence: An Evaluation of the Gut-Spinal Cord Relationship.

Immunometabolic Status of COVID-19 Cancer Patients.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

The Multiple Cranial Nerve Palsies: A Prospective Observational Study.

Postcardiac injury syndrome, peripheral hematoma of ascending aorta, and cerebral infarction after PCI: a case report.

Enterovirus-related rhombencephalitis and myelitis in the third trimester of pregnancy: A case report highlighting clinico-radiological findings at diagnosis and follow-up.

Neuronal/astrocytic expression of chemokine (C-C motif) ligand 2 is associated with monocyte/macrophage recruitment in male chronic pelvic pain.

COVID-19 in patients with thoracic malignancies (TERAVOLT): first results of an international, registry-based, cohort study.

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

Adipose derived mesenchymal stem cell treatment in experimental asherman syndrome induced rats.

Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles?

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.

Targeting spinal TRAF6 expression attenuates chronic visceral pain in adult rats with neonatal colonic inflammation.

Acute Flaccid Myelitis: A Clinical Review.

N-methyl-d-aspartate receptor subunit 2B on keratinocyte mediates peripheral and central sensitization in chronic post-ischemic pain in male rats.

The Mutation of the Ap3b1 Gene Causes Uterine Hypoplasia in Pearl Mice.

Electroacupuncture Alleviates Mechanical Allodynia in a Rat Model of Complex Regional Pain Syndrome Type-I via Suppressing Spinal CXCL12/CXCR4 Signaling.

Blockade of BDNF signalling attenuates chronic visceral hypersensitivity in an IBS-like rat model.

BDNF promotes activation of astrocytes and microglia contributing to neuroinflammation and mechanical allodynia in cyclophosphamide-induced cystitis.

Clinical, neuroimaging, and nerve conduction characteristics of spontaneous Conus Medullaris infarction.

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Histamine induces peripheral and central hypersensitivity to bladder distension via the histamine H1 receptor and TRPV1.

Distal Cervical Spondylotic Amyotrophy: Case Reports Demonstrating Clinical/Imaging Segmental Discrepancy.

Wnt signaling contributes to withdrawal symptoms from opioid receptor activation induced by morphine exposure or chronic inflammation.

Dysregulation of Mitochondrial Ca2+ Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.

Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases.

CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1.

Acute flaccid myelitis and enterovirus D68: lessons from the past and present.

Neuroacanthocytosis: a case report of chorea-acanthocytosis.

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

A genomics-informed computational biology platform prospectively predicts treatment responses in AML and MDS patients.

Transfer of complex regional pain syndrome to mice via human autoantibodies is mediated by interleukin-1-induced mechanisms.

Neuregulin-1-ErbB signaling promotes microglia activation contributing to mechanical allodynia of cyclophosphamide-induced cystitis.

Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Acute Manifestations of Neuromuscular Disease.

TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN.

Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease.

Acute flaccid myelitis caused by enterovirus D68: Case definitions for use in clinical practice.

Nervous system involvement in Behçet's syndrome.

Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time.

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

First-line Chemotherapy Responsiveness and Patterns of Metastatic Spread Identify Clinical Syndromes Present Within Advanced KRAS Mutant Non-Small-cell Lung Cancer With Different Prognostic Significance.

Tetrodotoxin-sensitive voltage-gated sodium channels regulate bladder afferent responses to distension.

Involvement of advillin in somatosensory neuron subtype-specific axon regeneration and neuropathic pain.

Autopsy-proven case of paraneoplastic lower motor neuron disease with sensorimotor neuropathy due to Waldenström's macroglobulinemia.

Localizing parkinsonism based on focal brain lesions.

Antagonizing bone morphogenetic protein 4 attenuates disease progression in a rat model of amyotrophic lateral sclerosis.

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations.

Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments.

Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.

X- and Y-chromosome-specific variants of the amelogenin gene allow non-invasive sex diagnosis for the detection of pseudohermaphrodite goats.

LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.

High mobility group box-1 (HMGB1) is increased in injured mouse spinal cord and can elicit neurotoxic inflammation.

SHIP1, but not an AML-derived SHIP1 mutant, suppresses myeloid leukemia growth in a xenotransplantation mouse model.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Susceptibility of different mouse strains to oxaliplatin peripheral neurotoxicity: Phenotypic and genotypic insights.

Treating pediatric neuromuscular disorders: The future is now.

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Neuroprotective Effects of Valproic Acid in a Rat Model of Cauda Equina Injury.

Practical approach to the patient with acute neuromuscular weakness.

Systemic administration of bone marrow-derived cells leads to better uterine engraftment than use of uterine-derived cells or local injection.

Myelopathy in Behçet's disease: The Bagel Sign.

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

[Expressions of Spinal Macrophage Colony Stimulating Factor and Its Receptor CSF-1R in the Development ofComplicated Regional Pain Symptom I].

Comparison of the analgesic effects between electro-acupuncture and moxibustion with visceral hypersensitivity rats in irritable bowel syndrome.

Bone Trauma Causes Massive but Reversible Changes in Spinal Circuitry.

Differentiating lower motor neuron syndromes.

Astrocyte contributes to pain development via MMP2-JNK1/2 signaling in a mouse model of complex regional pain syndrome.

36th International Symposium on Intensive Care and Emergency Medicine : Brussels, Belgium. 15-18 March 2016.

Phenotypic convergence of Menkes and Wilson disease.

The Activating NKG2C Receptor Is Significantly Reduced in NK Cells after Allogeneic Stem Cell Transplantation in Patients with Severe Graft-versus-Host Disease.

Inositol 1,4,5-trisphosphate receptor type 1 autoantibodies in paraneoplastic and non-paraneoplastic peripheral neuropathy.

A new model of nerve injury in the rat reveals a role of Regulator of G protein Signaling 4 in tactile hypersensitivity.

Activation of cannabinoid receptor 2 attenuates mechanical allodynia and neuroinflammatory responses in a chronic post-ischemic pain model of complex regional pain syndrome type I in rats.

Neuron-astrocyte interactions in spinal cord dorsal horn in neuropathic pain development and docosahexaenoic acid therapy.

Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy.

Acute flaccid weakness with myelopathy and peripheral nerve involvement in 2 children: Recent characterization of a previously observed phenomenon.

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.

Pain in autoimmune disorders.

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).