Inherited neuropathies: Clinical overview and update

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features

(2012) L. Leonardis et al.   EUROPEAN JOURNAL OF NEUROLOGY

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

(2012) Juliane Winkelmann et al.   HUMAN MOLECULAR GENETICS

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

(2012) Sinead M Murphy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Surgical and postpartum hereditary brachial plexus attacks and prophylactic immunotherapy

(2012) Christopher J. Klein et al.   MUSCLE & NERVE

Mechanisms of disease in hereditary sensory and autonomic neuropathies

(2012) Annelies Rotthier et al.   Nature Reviews Neurology

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

(2011) Jean-Baptiste Rivière et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

(2011) Catharina G. Faber et al.   ANNALS OF NEUROLOGY

Large Kindred Evaluation of Mitofusin 2 Novel Mutation, Extremes of Neurologic Presentations, and Preserved Nerve Mitochondria

(2011) Christopher J. Klein   ARCHIVES OF NEUROLOGY

SCA3 Presenting as an Isolated Axonal Polyneuropathy

(2011) Tracey D. Graves et al.   ARCHIVES OF NEUROLOGY

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

(2011) Annelies Rotthier et al.   HUMAN MUTATION

The debut of a rational treatment for an inherited neuropathy?

(2011) Steven S. Scherer   JOURNAL OF CLINICAL INVESTIGATION

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

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

(2011) Davide Pareyson et al.   LANCET NEUROLOGY

Channelopathies have many faces

(2011) Stephen G. Waxman   NATURE

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

(2011) Christopher J Klein et al.   NATURE GENETICS

Clinical and pathophysiological concepts of neuralgic amyotrophy

(2011) Nens van Alfen   Nature Reviews Neurology

MFN2 mutations cause severe phenotypes in most patients with CMT2A

(2011) S. M. E. Feely et al.   NEUROLOGY

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

(2011) C. J. Klein et al.   NEUROLOGY

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

Mass Spectrometric–Based Proteomic Analysis of Amyloid Neuropathy Type in Nerve Tissue

(2010) Christopher J. Klein et al.   ARCHIVES OF NEUROLOGY

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

(2010) Magdalena Zimoń et al.   BRAIN

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

(2010) O. P. Carvalho et al.   JOURNAL OF MEDICAL GENETICS

SEPT9 Mutations and a Conserved 17q25 Sequence in Sporadic and Hereditary Brachial Plexus Neuropathy

(2009) Christopher J. Klein et al.   ARCHIVES OF NEUROLOGY

PMP22 expression in dermal nerve myelin from patients with CMT1A

(2009) I. Katona et al.   BRAIN

Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A

(2009) M. A. Saporta et al.   BRAIN

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

(2009) A. Rotthier et al.   BRAIN

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

(2009) Megan L. Landsverk et al.   HUMAN MOLECULAR GENETICS

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

(2009) Ulf-Peter Guenther et al.   HUMAN MOLECULAR GENETICS

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

(2009) Michaela Auer-Grumbach et al.   NATURE GENETICS

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

(2009) Guida Landouré et al.   NATURE GENETICS

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

(2009) Ingo Kurth et al.   NATURE GENETICS

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

(2009) M. C. Hannibal et al.   NEUROLOGY

The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

(2009) Henry Houlden et al.   NEUROMUSCULAR DISORDERS

Diagnostic moléculaire des formes axonales de la maladie de Charcot-Marie-Tooth

(2009) P. Latour et al.   REVUE NEUROLOGIQUE

A novel mutation in thesenataxingene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis

(2008) Zhen-hua Zhao et al.   Amyotrophic Lateral Sclerosis

Antibodies to myelin-associated glycoprotein (anti-Mag) in IgM amyloidosis may influence expression of neuropathy in rare patients

(2008) Mercedes Garces-Sanchez et al.   MUSCLE & NERVE

Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)

(2008) J.D. England et al.   MUSCLE & NERVE

Late-onset hereditary axonal neuropathies

(2008) C. L. Bennett et al.   NEUROLOGY

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

(2008) T. Schmitz-Hubsch et al.   NEUROLOGY