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

Pediatric Conditions for Which Skin Biopsies of Clinically Normal Skin Have Diagnostic Yield: A Review for the Pediatric Dermatologist.

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.

The neuroimmune axis and chronic pain disorders.

Congenital insensitivity to pain with anhidrosis: a case report.

Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.

Management of Small Fiber Neuropathy: A Clinical Perspective.

PMP22-Related Neuropathies: A Systematic Review.

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

Co-occurrence of two monogenic diseases within a single family.

Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report.

Polyneuropathy in Wild-Type Transthyretin Amyloidosis.

A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy.

Cryptogenic Sensory Polyneuropathy and Metabolic Syndrome.

Congenital Insensitivity to Pain Syndrome With Hidrosis in a 17-Year-Old Female.

Adeno-associated virus-based rescue of Myo7a expression restores hair-cell function and improves hearing thresholds in a USH1B mouse strain.

A sensory and motor neuropathy caused by a genetic variant of NAMPT.

Neurological Examinations of Patients Initially Diagnosed With Wild-Type Transthyretin Amyloidosis (wtATTR).

Hummingbird sign in a patient with DNMT1-related disorder.

Environmental context modulates sociability in ube3a zebrafish mutants via alterations in sensory pathways.

Genetic Deletion of Sarm1 in Mouse Models of Three Neurological Diseases.

Description of peripheral nervous system involvement in wild-type transthyretin amyloidosis: A clinical and electrophysiological study.

Liquid-Liquid Phase Separation in Hereditary Hearing Loss.

A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome.

Congenital diseases with defects in DNA methylation maintenance: focusing on ICF syndrome and multilocus imprinting disturbance.

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

The Curated Treatment of a Young Woman With Marfan Syndrome: Elective Open Ascending Repair to Emergent Thoracoabdominal Endovascular Repair.

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.

Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients.

Genetic Screening for Hereditary Transthyretin Amyloidosis in the Population of Cammarata and San Giovanni Gemini Through Red Flags and Registry Archives.

Recurrent Osteomyelitis in a Paediatric Patient with a Novel NTRK1 Mutation: A Case Report on Congenital Insensitivity to Pain with Anhidrosis.

Sensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging.

[Monogenic autoinflammatory uveitis].

First instance of pain in congenital pain insensitivity with anhidrosis.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report.

A Comparative Study of the Electroneurographic Findings in Amyloidotic Polyneuropathy in Patients with Light-Chain Amyloidosis and Glu54Gln Transthyretin Amyloidosis.

Cervical lower motor neuron syndromes: A diagnostic challenge.

Viral-Mediated Connexin 26 Expression Combined with Dexamethasone Rescues Hearing in a Conditional Gjb2 Null Mice Model.

In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina.

Halo traction evaluation of craniocervical instability in hereditary connective tissue disorder patients: Case series.

Genetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.

Congenital Insensitivity to Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study.

A RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz.

Neuralgic amyotrophy of Parsonage and Turner. Which nerves are most frequently involved in daily practice? Data from 355 patients.

Management Targeted Genetic Evaluation of an Idiopathic Neuropathy Cohort Through ATTRv Amyloidosis Screening.

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Nerve ultrasound in CANVAS-spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies.

Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss.

Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.

Co-occurrence of tethered cord syndrome and cervical spine instability in hypermobile Ehlers-Danlos syndrome.

An Unusual Case of Lynch Syndrome.

Acute-Onset Quadriplegia Presenting With Hyperreflexia: A Dilemma in Diagnosis.

Pain Hypersensitivity in SLURP1 and SLURP2 Knock-out Mouse Models of Hereditary Palmoplantar Keratoderma.

Distal hereditary motor neuropathies.

A rare case of congenital insensitivity to pain with anhidrosis.

Analgesic effect of Botulinum toxin in neuropathic pain is sodium channel independent.

Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).

Recurrent Ipsilateral C5 Nerve Palsy Associated With Hereditary Neuropathy With Liability to Pressure Palsy.

Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.

Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman.

Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.

The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Autoantibodies Against Dihydrolipoamide S-Acetyltransferase in Immune-Mediated Neuropathies.

A novel method for detecting nine hotspot mutations of deafness genes in one tube.

Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN.

Outcome of Neuromuscular Electrodiagnostic Testing in Children.

Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.

The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.

Safety and Efficacy of Topiramate in Individuals With Cryptogenic Sensory Peripheral Neuropathy With Metabolic Syndrome: The TopCSPN Randomized Clinical Trial.

Expression pattern analysis and characterization of the hereditary sensory and autonomic neuropathy 2 A (HSAN2A) gene with no lysine kinase (WNK1) in human dorsal root ganglion.

Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

[Genetic analysis of a patient with Alport syndrome due to compound heterozygous variants of COL4A4 gene].

ROTH SPOTS IN A RENDU-OSLER-WEBER SYNDROME.

[Neurological manifestations of ATTR amyloidosis].

Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): diagnostic contribution of vestibular function tests.

Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model of human DFNB42 deafness.

Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients.

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.

Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins.

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.

Multidisciplinary approach to inherited causes of dual sensory impairment.

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant.

VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases.

Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice.

Toxic medications in Charcot-Marie-Tooth patients: A systematic review.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation.

Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies.

Teaching NeuroImage: Radial Compression Neuropathy Secondary to Accessory Belly of the Triceps Muscle.

[Thyroid Eye Disease-Compressive Optic Neuropathy].

Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations.

Sensorimotor control in the congenital absence of functional muscle spindles.

Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review.

Neurological, Psychiatric, and Multisystemic Involvement of Fragile X Syndrome Along With Its Pathophysiology, Methods of Screening, and Current Treatment Modalities.

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients.

Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.

Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features.

Decompression with Brachioradialis Tenotomy Improves Pain and Quality of Life in Patients with Radial Sensory Nerve Compression.

Carbamazepine for Chronic Muscle Pain: A Retrospective Assessment of Indications, Side Effects, and Treatment Response.

Heterogeneous Presentation of Hereditary Neuropathy With Liability to Pressure Palsies: Clinical and Electrodiagnostic Findings in Three Patients.

A Correlation between Upper Extremity Compressive Neuropathy and Nerve Compression Headache.

Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss.

NGF and BDNF in pediatrics syndromes.

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.

Crescentic Glomerulonephritis, A Rare Presentation of Alport Syndrome.

Evaluation of neurological testing for hand-arm vibration syndrome.

A child resides within a young adult: The first reported case of Alström syndrome in Bangladesh.

Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers-Danlos syndromes.

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies.

Kennedy's disease presented with mastication fatigue combined with positive titin antibody: a case report.

Cough as a neurological sign: What a clinician should know.

Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barré Syndrome: A case report.

Migraine Headaches in Patients with Upper Extremity Compressive Neuropathy.

A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.

A systematic review of the monogenic causes of Non-Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options.

Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages.

Pathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity.

Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.

Small fiber neuropathies: expanding their etiologies.

Ocular pain in ocular graft-versus-host disease patients with neurotrophic keratopathy.

Cardiomyopathy correlates to nerve damage in p.A117S late-onset transthyretin amyloid polyneuropathy.

Reliability of Muscle Strength and Muscle Power Assessments Using Isokinetic Dynamometry in Neuromuscular Diseases: A Systematic Review.

Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP.

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.

Hereditary Hyperekplexia in Saudi Arabia.

Axenfeld-Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report.

[Treatment of neurotrophic keratopathy in combined lesions of the trigeminal and facial nerves].

Congenital corneal anesthesia: A case series.

COVID-19 Vaccine-Induced Parsonage-Turner Syndrome: A Case Report and Literature Review.

[Marsili syndrome manifested by fever: a case report and literature review].

[Clinical case of the cardiovascular system involvement in a patient with Charcot-Marie-Tooth disease].

Microvascular neural blood flow assessment for a chronic nerve compression neuropathy mouse model by fluorescein angiography.

Mesenchymal stem cells (MSCs) in Leber's hereditary optic neuropathy (LHON): a potential therapeutic approach for future.

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.

Mast Syndrome Outside the Amish Community: SPG21 in Europe.

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Same same, but different? The neurological presentation of wildtype transthyretin (ATTRwt) amyloidosis.

Genetic aspects of pain and its variability in the human population.

Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment.

A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.

Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals.

Genetics & Epigenetics of Hereditary Deafness: An Historical Overview.

Clemastine improves electrophysiologic and histomorphometric changes through promoting myelin repair in a murine model of compression neuropathy.

[An 18-year-old man of hereditary neuropathy with liability to pressure palsies presenting with bilateral brachial plexopathy during military training].

Variable Presentation of Hereditary Transthyretin-Mediated Amyloidosis at a Single Center.

Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.

Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome.

[Advances in studies on genetics of syndromes combining sensorineural hearing loss with scoliosis].

Radial Tunnel Syndrome: Case Report and Comprehensive Critical Review of a Compression Neuropathy Surrounded by Controversy.

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort.

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.

Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.

Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.

Common Compression Neuropathies.

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Neurological involvement in monogenic podocytopathies.

Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia.

AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.

Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.

[Lesions of the anterior interosseous nerve: differentiating between compression neuropathy and neuritis].

Heterotopic Ossification After Revision Carpal Tunnel Release Causing Mixed Ulnar and Median Compression Neuropathy.

SPOAN syndrome: a novel mutation and new ocular findings; a case report.

Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neurophysiological assessment in a patient affected by Marfan syndrome.

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

Nerve wrapping for recurrent compression neuropathy: A systematic review.

Abnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy.

Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.

The Electrophysiologic and Ultrasonographic Change after Carpal Tunnel Release in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy.

Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH.

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.

Ciliopathies and the Kidney: A Review.

Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra.

Orphan Peripheral Neuropathies.

Bilateral harlequin syndrome, unilateral Horner syndrome, and Riga-Fede disease as presenting features of hereditary sensory and autonomic neuropathy type IV.

High prevalence of carpal tunnel syndrome in individuals with rare nerve growth factor-beta mutation.

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.

Clinical Reasoning: A 6-Year-Old Boy With Muscle Twitching.