Long-Term Successful Nonoperative Management of a Displaced Pediatric Odontoid Fracture in Hereditary Sensory and Autonomic Neuropathy Type IV: A Case Report.

Exploring the proprioceptive potential of joint receptors using a biomimetic robotic joint.

Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.

Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature.

The neuropathy-linked protein TECPR2 is a Rab5 effector that regulates cargo recycling from early endosomes.

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.

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

Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia.

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

FAM134B in Cellular Homeostasis: Bridging Endoplasmic Reticulum-Phagy to Human Diseases.

Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant.

Hummingbird sign in a patient with DNMT1-related disorder.

Lenticulostriate vasculopathy in newborns: whole genome sequencing data analysis.

Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.

Type IV Hereditary Sensory and Autonomic Neuropathy: Challenges and Functional Outcomes.

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal.

Advances in the treatment of familial dysautonomia: what does the future hold?

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

SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.

[Peripheral Nerve: Cause and Pathology of Inherited Peripheral Neuropathy].

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

Effect of SPTLC1 on type 2 diabetes mellitus.

First instance of pain in congenital pain insensitivity with anhidrosis.

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 novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient.

Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.

Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review.

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.

A Novel Pathogenic Mutation in WNK1 Gene Causing HSAN Type II in Three Siblings.

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.

Hereditary Sensory and Autonomic Neuropathy-Report of Two Cases in Siblings and Review of Literature.

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

Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism.

Sensory-motor circuit is a therapeutic target for dystonia musculorum mice, a model of hereditary sensory and autonomic neuropathy 6.

Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo.

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.

Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII.

A rare case of congenital insensitivity to pain with anhidrosis.

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

[Hereditary sensory and autonomic neuropathy 1E showing hyperreflexia: a case report].

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

DNMT1 Y495C mutation interferes with maintenance methylation of imprinting control regions.

Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report.

Exploring CNS Involvement in Pain Insensitivity in Hereditary Sensory and Autonomic Neuropathy Type 4: Insights from Tc-99m ECD SPECT Imaging.

Congenital Insensitivity to Pain with Anhidrosis: A Case Report.

Mfsd7b facilitates choline transport and missense mutations affect choline transport function.

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

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.

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

A novel HSPB1S139F mouse model of Charcot-Marie-Tooth Disease.

Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.

Autonomic failure: Clinicopathologic, physiologic, and genetic aspects.

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.

Orthopedic Manifestations of Hereditary Sensory and Autonomic Neuropathy IV in a 10-Year-Old Patient.

SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.

Molecular characterization of wild-type and HSAN2B-linked FAM134B.

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

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

Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.

Sensorimotor control in the congenital absence of functional muscle spindles.

The NGF R100W Mutation, Associated with Hereditary Sensory Autonomic Neuropathy Type V, Specifically Affects the Binding Energetic Landscapes of NGF and of Its Precursor proNGF and p75NTR.

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.

A rare case of hereditary sensory and autonomic neuropathy type II.

Spatial proteomics reveals secretory pathway disturbances caused by neuropathy-associated TECPR2.

Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E).

Isolation and transfection of myenteric neurons from mice for patch-clamp applications.

NGF and BDNF in pediatrics syndromes.

Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.

Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature.

Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis.

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

Identification of sensory dysfunction and nervous structure changes in Fam134b knockout mice.

Association of variants in the KIF1A gene with amyotrophic lateral sclerosis.

KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.

A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis.

Anesthetic management of a child with congenital insensitivity to pain with anhidrosis: A case report.

WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway.

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy.

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy.

Hereditary Sensory and Autonomic Neuropathy Type II in a Female Child with Multiple Orthopaedic Ailments: Diagnosis and Operative Management.

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.

Keratoconus associated with hereditary sensory and autonomic neuropathy II.

A case report: Anesthetic management for open-heart surgery in a child with congenital insensitivity to pain with anhidrosis.

NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test.

Genetic pain loss disorders.

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.

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

Hereditary Sensory and Autonomic Neuropathy Type VIII: Congenital Insensitivity to Pain with Anhidrosis.

Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.

Hereditary Autonomic Neuropathy of the Oral Cavity and its Management.

Pregnancy in hereditary sensory and autonomic neuropathy type V: A case report and literature review.

A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle.

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

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.

Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.

1-Deoxysphinganine initiates adaptive responses to serine and glycine starvation in cancer cells via proteolysis of sphingosine kinase.

A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis.

Generation of a transgenic mouse embryonic stem cell line expressing Dnmt1Y495C mutation associated with HSAN1E disorder.

Not Another Case Of Juvenile Idiopathic Arthritis: Congenital Insensitivity To Pain Presenting With Joint Problems.

Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant.

Towards personalized medicine for amyotrophic lateral sclerosis.

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF.

Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles.

The long chain base unsaturation has a stronger impact on 1-deoxy(methyl)-sphingolipids biophysical properties than the structure of its C1 functional group.

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

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

AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.

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

[A case report of hereditary sensory and autonomic neuropathy type Ⅶ].

Reduced Myocardial Uptake of 123I-MIBG in Congenital Insensitivity to Pain With Anhidrosis.

Frequency and burden of gastrointestinal symptoms in familial dysautonomia.

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.

1-Deoxysphingolipids cause autophagosome and lysosome accumulation and trigger NLRP3 inflammasome activation.

Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation.

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.

Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice.

Elbow proprioception is normal in patients with a congenital absence of functional muscle spindles.

Disruption of dystonin in Schwann cells results in late-onset neuropathy and sensory ataxia.

Canonical and 1-Deoxy(methyl) Sphingoid Bases: Tackling the Effect of the Lipid Structure on Membrane Biophysical Properties.

Retrograde nerve growth factor signaling abnormalities in familial dysautonomia.

A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity.

Population Study of Hand and Wrist Manifestations of Congenital Insensitivity to Pain.

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.

HSAN-VI: A spectrum disorder based on dystonin isoform expression.

Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.

FAM134B oligomerization drives endoplasmic reticulum membrane scission for ER-phagy.

Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.

First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene.

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.

The NGFR100W Mutation Specifically Impairs Nociception without Affecting Cognitive Performance in a Mouse Model of Hereditary Sensory and Autonomic Neuropathy Type V.

Focal Epithelial Hyperplasia in a Child with Hereditary Sensory and Autonomic Neuropathy type IV: A Rare Co-Occurrence.

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.

Cytotoxicity of 1-deoxysphingolipid unraveled by genome-wide genetic screens and lipidomics in Saccharomyces cerevisiae.

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.

Congenital Insensitivity to Pain with Anhidrosis: A Case with Self-Inflicted Oral Ulcerations.

A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity.

The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA.

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).

Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep.

Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias.

Extreme Ends of Pain Sensitivity in SCN9A Mutation Variants: Case Report and Literature Review.

ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy.

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.

Uncoupling neurotrophic function from nociception of nerve growth factor: what can be learned from a rare human disease?

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

Plantar Ulcers and Neuropathic Arthropathies: Associated Diseases, Polyneuropathy Correlates, and Risk Covariates.

Cholinergic striatal neurons are increased in HSAN V homozygous mice despite reduced NGF bioavailability.

Comprehensive Computational Analysis of Protein Phenotype Changes Due to Plausible Deleterious Variants of Human SPTLC1 Gene.

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case.

A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree.

V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.

Painless Nerve Growth Factor: A TrkA biased agonist mediating a broad neuroprotection via its actions on microglia cells.

Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5.

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE.

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.

Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study.

A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site.

Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report.

Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles.

Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA).

Hereditary sensory and autonomic neuropathy in a male child: 'The other side of not feeling pain'.

Tsc3 regulates SPT amino acid choice in Saccharomyces cerevisiae by promoting alanine in the sphingolipid pathway.

A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV).

Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene.

Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases.

Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.

Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12.

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.

Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.

Hereditary Sensory and Autonomic Neuropathy Presenting With Mutilating Trophic Ulcers.

Glycogen synthase kinase 3ß functions as a positive effector in the WNK signaling pathway.

Swedish Nerve Growth Factor Mutation (NGFR100W) Defines a Role for TrkA and p75NTR in Nociception.

Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.

RETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer.

[A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom].

Anesthetic Management of a Patient With De Novo Hereditary Sensory and Autonomic Neuropathy, Type VII: A Case Report.

Motoneuron degeneration in the trigeminal motor nucleus innervating the masseter muscle in Dystonia musculorum mice.

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent.

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

BPAG1 in muscles: Structure and function in skeletal, cardiac and smooth muscle.

Animal and cellular models of familial dysautonomia.

[ORO-DENTO-FACIAL MANIFESTATIONS IN PATIENTS WITH FAMILIAL DYSAUTONOMIA].

Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study.

BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia.

WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study.

Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.