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Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy

Clinical neurophysiology, 2017-01, Vol.128 (1), p.227-232

2017

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A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

Frontiers in genetics, 2022-01, Vol.12, p.801253-801253

2022

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Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations

Neurology, 2005-08, Vol.65 (3), p.496-497

2005

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Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

Clinical genetics, 2016-08, Vol.90 (2), p.127-133

2016

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Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

Scientific reports, 2020-06, Vol.10 (1), p.9262-9262, Article 9262

2020

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A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24

American journal of human genetics, 2003-09, Vol.73 (3), p.632-637

2003

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A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Human molecular genetics, 2013-04, Vol.22 (7), p.1404-1416

2013

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Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease

Neurology, 2006-12, Vol.67 (11), p.2016-2021

2006

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A new autosomal dominant pure cerebellar ataxia

Neurology, 2001-11, Vol.57 (10), p.1913-1915

2001

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Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2

American journal of human genetics, 2001-10, Vol.69 (4), p.883-888

2001

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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

Nature genetics, 1994-03, Vol.6 (3), p.263-266

1994

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The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3

Nature genetics, 1996-05, Vol.13 (1), p.101-104

1996

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Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction

Clinical chemistry (Baltimore, Md.), 1995-08, Vol.41 (8 Pt 1), p.1105-1108

1995

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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

American journal of human genetics, 2004-06, Vol.74 (6), p.1128-1135

2004

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Genomic structure and physical mapping of C17orf1 : A gene associated with the proximal element of the CMT1A-REP binary repeat

Genomics (San Diego, Calif.), 1998-10, Vol.53 (1), p.110-112

1998

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The Charcot-Marie-tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene

Genomics (San Diego, Calif.), 1997-11, Vol.46 (1), p.61-69

1997

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A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36

Human genetics, 2007-06, Vol.121 (5), p.559-564

2007

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Single test for two hereditary neuropathies, CMT1A and HNPP

Clinical chemistry (Baltimore, Md.), 1995-10, Vol.41 (10), p.1534-1535

1995

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A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR

Genetic testing, 2003-06, Vol.7 (2), p.135-138

2003

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Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: : exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

Neurobiology of disease, 2003-07, Vol.13 (2), p.147-157

2003

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Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20

Archives of neurology (Chicago), 1994-11, Vol.51 (11), p.1125-1128

1994

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Charcot-Marie-Tooth neuropathy type 1A mutation: Apparent crossovers with D17S122 are due to a duplication

American journal of medical genetics, 1992-11, Vol.44 (4), p.455-460

1992

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Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1

Human heredity, 1995-05, Vol.45 (3), p.121-128

1995

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Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes

Neurogenetics, 2004-09, Vol.5 (3), p.197-200

2004

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Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards

Journal of neurology, neurosurgery and psychiatry, 2024-05, Vol.95 (11), p.992-1001

2024

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Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease

A new autosomal dominant pure cerebellar ataxia

Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3

Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Genomic structure and physical mapping of C17orf1 : A gene associated with the proximal element of the CMT1A-REP binary repeat

The Charcot-Marie-tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene

A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36

Single test for two hereditary neuropathies, CMT1A and HNPP

A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: : exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20

Charcot-Marie-Tooth neuropathy type 1A mutation: Apparent crossovers with D17S122 are due to a duplication

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1

Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes

Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards

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