Charcot-Marie-Tooth Disease and Related Inherited Neuropathies

Electrodiagnosis in Diseases of Nerve and Muscle: Principles and Practice

1983 • 1,485 citations

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1991 • 1,293 citations

Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

1993 • 1,055 citations

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

1974 • 874 citations

THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II

1980 • 805 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1991 • 587 citations

Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular Atrophy

1968 • 560 citations

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

1992 • 497 citations

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons

1992 • 493 citations

Progesterone Synthesis and Myelin Formation by Schwann Cells

1995 • 471 citations

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

1992 • 422 citations

Trembler mouse carries a point mutation in a myelin gene

1992 • 418 citations

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

1996 • 415 citations

Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular Atrophy

1968 • 403 citations

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1992 • 385 citations

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

1992 • 383 citations

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1993 • 361 citations

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1995 • 360 citations

Hereditary motor and sensory neuropathies.

1991 • 348 citations

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1993 • 325 citations

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

1992 • 317 citations

Protein zero (P0)–deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1995 • 314 citations

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1994 • 313 citations

Intensive evaluation of referred unclassified neuropathies yields improved diagnosis

1981 • 313 citations

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

1992 • 295 citations

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

1996 • 291 citations

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.

1992 • 286 citations

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1992 • 280 citations

Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

1994 • 277 citations

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

1994 • 263 citations

A growth arrest-specific (gas) gene codes for a membrane protein.

1990 • 252 citations

Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

1993 • 250 citations

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES. ELECTROPHYSIOLOGICAL AND HISTOPATHOLOGICAL ASPECTS

1972 • 241 citations

Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

1982 • 220 citations

A myelin protein is encoded by the homologue of a growth arrest-specific gene.

1991 • 217 citations

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

1994 • 217 citations

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

1989 • 205 citations

De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

1993 • 202 citations

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1989 • 198 citations

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

1993 • 191 citations

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B

1993 • 186 citations

Axon-regulated expression of a Schwann cell transcript that is homologous to a ‘growth arrest-specific’ gene.

1991 • 182 citations

Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.

1994 • 182 citations

Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth.

1995 • 181 citations

Biology and Genetics of Hereditary Motor and Sensory Neuropathies

1995 • 179 citations

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q

1993 • 177 citations

Mutations in the connexin 32 gene in X-linked dominant Charcot- Marie - Tooth disease (CMTX1)

1994 • 175 citations

Intermediate nerve conduction velocities define X‐linked Charcot‐Marie‐Tooth neuropathy families

1993 • 174 citations

The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy)

1975 • 171 citations

Charcot-Marie-tooth disease: a new paradigm for the mechanism of inherited disease

1994 • 162 citations

De-novo mutation in hereditary motor and sensory neuropathy type I

1992 • 160 citations

HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES<subtitle>A Clinical and Electrophysiological Study of Four Families<xref ref-type="fn" rid="fn1"><sup>1</sup></xref></subtitle>

1964 • 159 citations

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1993 • 154 citations

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

1993 • 153 citations

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

1995 • 141 citations

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

1992 • 140 citations

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1993 • 126 citations

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

1994 • 123 citations

Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system

1993 • 122 citations

Late onset hereditary distal myopathy

1974 • 121 citations

Prednisone-responsive hereditary motor and sensory neuropathy.

1982 • 121 citations

X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq

1985 • 117 citations

Nerve conduction studies in Charcot‐Marie‐Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1993 • 114 citations

Charcot–marie–tooth neuropathies: From clinical description to molecular genetics

1995 • 114 citations

Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion

1995 • 109 citations

Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1

1989 • 109 citations

Uniform slowing of conduction velocities in Charcot‐Marie‐Tooth polyneuropathy type 1

1993 • 107 citations

Clinical variability in two pairs of identical twins with the Charcot‐Marie‐Tooth disease type 1A duplication

1995 • 107 citations

Molecular anatomy and genetics of myelin proteins in the peripheral nervous system.

1995 • 105 citations

Widespread expression of the peripheral myelin protein‐22 gene (pmp22) in neural and non‐neural tissues during murine development

1995 • 104 citations

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

1994 • 98 citations

Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B

1993 • 92 citations

Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

1990 • 91 citations

"Idiopathic" Pes Cavus

1963 • 90 citations

The Excretion of Inorganic Phosphorus in Children after the Administration of Glucose

1951 • 89 citations

Trisomy 17p associated with Charcot‐Marie‐Tooth neuropathy type 1A phenotype

1992 • 89 citations

RECURRENT BRACHIAL PLEXUS NEUROPATHY

1975 • 88 citations

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

1993 • 84 citations

Inherited Primary Peripheral Neuropathies

1993 • 83 citations

Mutation of the Myelin Po Gene in Charcot-Marie-Tooth Neuropathy Type 1

1993 • 80 citations

Linkage localization of X-linked Charcot-Marie-Tooth disease.

1993 • 80 citations

Pathogenesis of Pes Cavus in Charcot-Marie-Tooth Disease

1983 • 79 citations

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

1987 • 78 citations

Differential expression of two mRNA species indicates a dual function of peripheral myelin protein PMP22 in cell growth and myelination

1994 • 77 citations

Penetrance of the hereditary motor and sensory neuropathy la mutation

1991 • 74 citations

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

1996 • 71 citations

RELATION OF HEREDITARY PATTERN TO CLINICAL SEVERITY AS ILLUSTRATED BY PERONEAL ATROPHY

1939 • 71 citations

Prevalence of the 1.5‐Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

1994 • 68 citations

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

1995 • 68 citations

Hereditary motor–sensory neuropathy and movement disorders

1993 • 66 citations

Congenital absence of peripheral myelin

1988 • 66 citations

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

1996 • 66 citations

RECURRENT PERIPHERAL-NERVE PALSIES IN A FAMILY

1954 • 65 citations

Uncompacted Inner Myelin Lamellae in Inherited Tendency to Pressure Palsy

1991 • 63 citations

Analysis of the DNA duplication 17p11.2 in Charcot‐Marie‐Tooth neuropathy type 1 pedigrees

1992 • 63 citations

Chromosomal duplications in bacteria, fruit flies, and humans.

1996 • 63 citations

Ultrastructural Distribution of PMP22 in Charcot-Marie-Tooth Disease Type 1A

1996 • 63 citations

Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication

1995 • 62 citations

Screening of dominantly inherited Charcot–Marie–Tooth neuropathies

1993 • 62 citations

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region

1991 • 61 citations

Evolution of nerve conduction abnormalities in children with dominant hypertrophic neuropathy of the charcot‐marie‐tooth type

1983 • 60 citations

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

1995 • 57 citations

Congenital hypomyelinating neuropathy.

1985 • 57 citations

A Locus for Axonal Motor-Sensory Neuropathy with Deafness and Mental Retardation Maps to Xq24–q26

1995 • 57 citations

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.

1996 • 57 citations

Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

1996 • 55 citations

Alternatively sized duplication in Charcot — Marie — Tooth disease type 1A

1993 • 54 citations

The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I

1989 • 52 citations

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

1995 • 52 citations

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies

1994 • 52 citations

SEVERE SENSORY CHANGES, AND TROPHIC DISORDER, IN PERONEAL MUSCULAR ATROPHY (CHARCOT-MARIE-TOOTH TYPE)

1952 • 52 citations

Homozygous expression of a dominant gene for charcot-marie-tooth neuropathy

1979 • 51 citations

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot—Marie— Tooth disease type 1

1994 • 51 citations

Molecular Basis of Common Hereditary Motor and Sensory Neuropathies in Humans and in Mouse Models

1995 • 50 citations

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

1994 • 49 citations

Molecular Genetics and Neuropathology of Charcot‐Marie‐Tooth Disease Type 1A

1992 • 49 citations

Identification of a de novo insertional mutation in P_o in a patient with a Déjérine - Sottas syndrome (DSS) phenotype

1994 • 48 citations

Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2?12

1993 • 46 citations

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

1995 • 46 citations

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

1992 • 45 citations

New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.

1993 • 44 citations

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

1993 • 43 citations

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies

1994 • 43 citations

X-linked dominant Charcot — Marie — Tooth neuropathy: valine-38-methionine substitution of connexin32

1994 • 42 citations

Autosomal recessive form of hereditary motor and sensory neuropathy type I

1992 • 40 citations

Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1

1989 • 40 citations

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

1992 • 40 citations

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

1994 • 37 citations

Overexpression of DM20 messenger RNA in two brothers with pelizaeus‐merzbacher disease

1995 • 37 citations

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

1995 • 37 citations

Why do DNA testing? Practical and ethical implications of new neurogenetic tests

1995 • 36 citations

Prenatal diagnosis of charcot‐marie‐tooth disease type 1a (CMT1A) using molecular genetic techniques

1995 • 36 citations

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

1994 • 35 citations

Hereditary pressure-sensitive neuropathy

1980 • 35 citations

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

1993 • 33 citations

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

1994 • 32 citations

Absence ofPMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot-marie-tooth disease type 1A

1996 • 32 citations

Allelic heterogeneity in hereditary motor and sensory neuropathy type la (Charcot‐Marie‐Tooth disease type 1a)

1993 • 32 citations

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

1995 • 32 citations

A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?

1996 • 32 citations

Molecular Genetics of Charcot-Marie-Tooth Neuropathy

1994 • 31 citations

Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p 11.2 duplication

1994 • 31 citations

Genetic abnormalities and pathogenesis of familial amyloidotic polyneuropathy

1995 • 29 citations

Coexistence of hereditary motor and sensory neuropathy type IA and IGM paraproteinemic neuropathy

1993 • 29 citations

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

1992 • 28 citations

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.

1992 • 28 citations

A sporadic form of hereditary neuropathy with liability to pressure palsies

1994 • 27 citations

Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis.

1995 • 27 citations

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

1996 • 26 citations

Prenatal diagnosis of Charcot‐Marie‐Tooth disease type 1a by multicolor in situ hybridization

1993 • 25 citations

Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.

1992 • 24 citations

Detection of tandem duplications and implications for linkage analysis.

1994 • 22 citations

Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.

1994 • 20 citations

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases

1995 • 19 citations

Frequency of Duplication at 17p11.2 in Families of Northeast Italy with Charcot-Marie-Tooth Disease Type 1

1995 • 19 citations

A VIRGINIA KINSHIP WITH HEREDITARY SENSORY NEUROPATHY: PERONEAL MUSCULAR ATROPHY AND PES CAVUS.

1965 • 18 citations

Charcot‐Marie‐Tooth disease type 1A: the parental origin of a de novo 17p11.2‐p12 duplication

1994 • 17 citations

DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).

1994 • 15 citations

PREFACE

1951 • 15 citations

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

1994 • 14 citations

17p11.2 Duplication Is a Common Finding in Sporadic Cases of Charcot-Marie-Tooth Type 1

1994 • 13 citations

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

1992 • 12 citations

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients

1995 • 10 citations

The Prevention of Neurogenetic Disease

1995 • 10 citations

Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

1993 • 10 citations

Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP

1993 • 7 citations

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)

1992 • 6 citations

Charcot‐Marie‐Tooth disease: molecular characterization of patients from Central and Southern Italy

1995 • 5 citations

DNA rearrangements affecting dosage sensitive genes

1996 • 4 citations

Charcot-Marie-Tooth Disease and Related Inherited Myelin Disorders: Molecular Genetics and Implications for Gene Therapy

1994 • 1 citations

Deleted Work

1955 • 0 citations