The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

Natural history and biomarkers in hereditary sensory neuropathy type 1

(2015) Vera Fridman et al.   MUSCLE & NERVE

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

(2015) Daniela Ernst et al.   NEUROMOLECULAR MEDICINE

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

(2014) Uwe Kornak et al.   BRAIN

Lowering Plasma 1-Deoxysphingolipids Improves Neuropathy in Diabetic Rats

(2014) Alaa Othman et al.   DIABETES

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Deoxysphingolipids, Novel Biomarkers for Type 2 Diabetes, Are Cytotoxic for Insulin-Producing Cells

(2013) R. A. Zuellig et al.   DIABETES

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

(2013) Emil Ylikallio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

(2013) S. M. Murphy et al.   NEUROLOGY

P42 Hereditary sensory neuropathy type 1: correlation of severity and plasma atypical deoxy-sphyngoid bases

(2012) M. Lauraá et al.   NEUROMUSCULAR DISORDERS

Plasma deoxysphingolipids: a novel class of biomarkers for the metabolic syndrome?

(2011) A. Othman et al.   DIABETOLOGIA

Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

(2011) Kevin Garofalo et al.   JOURNAL OF CLINICAL INVESTIGATION

What is impact?: Figure 1

(2011) Matthew C Kiernan   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

(2011) Christopher J Klein et al.   NATURE GENETICS

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

(2010) Annelies Rotthier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

(2010) Christian Guelly et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

(2010) Anke Penno et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH