Disease: Neuropathy hereditary sensory and autonomic type 1
- <em>KIF1A</em> novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC
- <em>NTRK1</em>-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test
- A Case of Generalized Xerotic Eczema in a Patient with Congenital Insensitivity to Pain with Anhidrosis
- A case report: Anesthetic management for open-heart surgery in a child with congenital insensitivity to pain with anhidrosis
- A de novo c.113 T > C: p.L38R mutation of <em>SPTLC1</em>: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis
- A Metabolic Signature of Hereditary Transthyretin Amyloidosis: A Pilot Study
- A natural history analysis of asymptomatic <em>TTR</em> gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS)
- A novel HSPB1<sup>S139F</sup> mouse model of Charcot-Marie-Tooth Disease
- A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment
- A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness
- A rare case of congenital insensitivity to pain with anhidrosis
- A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium
- A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease
- Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure
- Amyloid Neuropathy: From Pathophysiology to Treatment in Light-Chain Amyloidosis and Hereditary Transthyretin Amyloidosis
- Association of variants in the KIF1A gene with amyotrophic lateral sclerosis
- Cardiomyopathy correlates to nerve damage in p.A117S late-onset transthyretin amyloid polyneuropathy
- Case of bilateral hip joint Charcot arthropathy in a paediatric patient
- Charcot-Marie-Tooth Disease
- Charcot-Marie-Tooth Disease
- Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature
- Commentary: Congenital corneal anesthesia: A rare form of type-4 familial dysautonomia
- Correlation between a commercial electrophysiological test of sudomotor function and intraepidermal nerve fiber density in hereditary transthyretin amyloidosis
- Counseling Family Members and Monitoring for Evidence of Disease in Asymptomatic Carriers of Amyloid Transthyretin Cardiac Amyloidosis
- Cutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages
- Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1
- Destructive Spondyloarthropathy due to Congenital Insensitivity to Pain with Anhidrosis: A Case Report of Long-Term Follow-Up
- Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers
- Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia
- Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease
- Drug and Gene Therapy for Treating Variant Transthyretin Amyloidosis (ATTRv) Neuropathy
- DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy
- Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation
- Electrodiagnostic Evaluation of Acute Inflammatory Demyelinating Polyneuropathy
- Electrodiagnostic Evaluation of Acute Inflammatory Demyelinating Polyneuropathy
- Expanding the genetic causes of small-fiber neuropathy: SCN genes and beyond
- Exploring CNS Involvement in Pain Insensitivity in Hereditary Sensory and Autonomic Neuropathy Type 4: Insights from Tc-99m ECD SPECT Imaging
- 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
- Familial dysautonomia
- Femoral fracture in a rare case of congenital insensitivity to pain with anhidrosis (CIPA)
- Fifteen-minute consultation: Approach to a child with congenital insensitivity to pain
- From the Destruction of Two Lumbar Segments to Thoracic-Lumbar-Pelvic Fusion: A Case Caused by Congenital Insensitivity to Pain with Anhidrosis and Literature Review
- Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)
- Functional and morphometric assessment of small-fibre damage in late-onset hereditary transthyretin amyloidosis with polyneuropathy: the controversial relation between small-fibre-related symptoms and diagnostic test findings
- Gastrointestinal bleeding in children with familial dysautonomia: a case-control study
- Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
- Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic
- Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders
- Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia
- Height, weight, and body mass index in patients with familial dysautonomia
- Hereditary motor and sensory neuropathy with SOD1-mutant: A case report
- Hereditary sensory and autonomic neuropathy 1E showing hyperreflexia: a case report
- Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV
- Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII
- Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients
- Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis
- Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy
- Keratoconus associated with hereditary sensory and autonomic neuropathy II
- KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC
- Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre
- Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy
- Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia
- Magnetic resonance imaging of dorsal root ganglion in a pre-symptomatic subject with familial amyloid polyneuropathy transthyretin E61K
- Marsili syndrome manifested by fever: a case report and literature review
- Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism
- Molecular characterization of wild-type and HSAN2B-linked FAM134B
- Multi-type <em>RFC1</em> repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
- Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
- Neurological manifestations of ATTR amyloidosis
- Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models
- Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E)
- NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test
- Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
- Orthopedic Manifestations of Hereditary Sensory and Autonomic Neuropathy IV in a 10-Year-Old Patient
- Parasympathetic neurons derived from human pluripotent stem cells model human diseases and development
- Pathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity
- Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report
- Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy
- Pitfalls of cubital electrical nerve stimulation for neuromuscular transmission monitoring: A case report of familial amyloid polyneuropathy
- Recent updates in autonomic research: orthostatic hypotension and cognitive function in Parkinson disease and multiple system atrophy, the skin as a window into synuclein pathology, and RFC1 repeat expansions in hereditary sensory autonomic neuropathies
- Recurrent de novo <em>SPTLC2</em> variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
- Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators
- Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA
- SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain
- Sensorimotor control in the congenital absence of functional muscle spindles
- Sensory-motor circuit is a therapeutic target for dystonia musculorum mice, a model of hereditary sensory and autonomic neuropathy 6
- Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features
- Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders
- Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family
- 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
- SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
- Strategy for genetic analysis in hereditary neuropathy
- TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine
- The <em>DST</em> gene in neurobiology
- The Relationship Between Scoliosis, Spinal Bone Density, and Truncal Muscle Strength in Familial Dysautonomia Patients
- The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
- Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1
- Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
- WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway