Hereditary Demyelinating Motor and Sensory Neuropathy

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

1991 • 1,293 citations

Chronic Inflammatory Polyradiculoneuropathy

1997 • 811 citations

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

1980 • 805 citations

Peripheral Neuropathy.

1976 • 685 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

Greenfield's Neuropathology

1993 • 445 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

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

1992 • 398 citations

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

1992 • 383 citations

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

1992 • 317 citations

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

1992 • 295 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

The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies

1982 • 246 citations

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

1989 • 198 citations

PERONEAL MUSCULAR ATROPHY (PMA) AND RELATED DISORDERS

1977 • 194 citations

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

1992 • 160 citations

A comprehensive genetic map of murine chromosome 11 reveals extensive linkage conservation between mouse and human.

1989 • 151 citations

PERONEAL MUSCULAR ATROPHY (PMA) AND RELATED DISORDERS

1977 • 145 citations

The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification.

1978 • 144 citations

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

1987 • 123 citations

Prednisone-responsive hereditary motor and sensory neuropathy.

1982 • 121 citations

Onion bulb neuropathy in the trembler mouse: A model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man

1973 • 114 citations

Autosomal recessive forms of hereditary motor and sensory neuropathy.

1980 • 111 citations

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

1989 • 109 citations

Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy.

1966 • 105 citations

Hereditary hypertrophic neuropathy in the Trembler mouse

1976 • 103 citations

Comparison of Trembler and Trembler-J Mouse Phenotypes

1983 • 99 citations

Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I)

1992 • 97 citations

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

1990 • 91 citations

CONGENITAL HYPOMYELINATION POLYNEUROPATHY

1982 • 90 citations

CLINICAL AND ELECTRODIAGNOSTIC FEATURES OF CHARCOT-MARIE-TOOTH SYNDROME

1978 • 89 citations

Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy

1969 • 88 citations

An electron microscopic study of hypertrophic neuropathy of Dejerine and Sottas.

1967 • 87 citations

Chronic inflammatory demyelinating polyneuropathy of infancy: A corticosteroid‐responsive disorder

1986 • 82 citations

Peroneal muscular atrophy

1983 • 81 citations

Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding

1989 • 79 citations

Penetrance of the hereditary motor and sensory neuropathy la mutation

1991 • 74 citations

A Case of Congenital Hypomyelination Neuropathy

1977 • 73 citations

Hereditary hypertrophic neuropathy in the trembler mouse

1976 • 70 citations

LEAD NEUROPATHY

1977 • 70 citations

CONGENITAL DEMYELINATING MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS

1990 • 69 citations

Congenital absence of peripheral myelin

1988 • 66 citations

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

1991 • 61 citations

The nature of myelinated nerve fiber degeneration in dominantly inherited hypertrophic neuropathy.

1974 • 60 citations

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

1983 • 60 citations

Congenital hypomyelinating neuropathy.

1985 • 57 citations

Congenital hypo- and hypermyelination neuropathy

1987 • 55 citations

Severe hypomyelination and marked abnormality of conduction in Dejerine-Sottas hypertrophic neuropathy: myelin thickness and compound action potential of sural nerve in vitro.

1971 • 55 citations

Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita

1992 • 54 citations

brief communicationsL

1991 • 53 citations

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

1989 • 52 citations

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

1979 • 51 citations

Infantile Polyneuropathy with Defective Myelination: an Autopsy Study

1975 • 50 citations

Chronic polyradiculoneuropathy of infancy

1976 • 49 citations

Peroneal muscular atrophy

1983 • 48 citations

Dominantly inherited peroneal muscular atrophy (hereditary motor and sensory neuropathy type I) in infancy and childhood

1981 • 46 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

The electrophysiologic profile of Dejerine–Sottas disease (HMSN III)

1990 • 39 citations

Hypertrophic interstitial polyneuropathy in infancy

1973 • 37 citations

Thin axons relative to myelin spiral length in hereditary motor and sensory neuropathy, type I

1983 • 37 citations

Lymphocyte blast transformation responses to mitogens and specific antigens in different clinical phases of multiple sclerosis: a follow-up study

1983 • 36 citations

Charcot-Marie-Tooth Disease Associated with Hypertrophic Neuropathy

1980 • 35 citations

Congenital Hypomyelination Neuropathy in a Newborn

1983 • 35 citations

Electron-microscopic heterogeneity of onion-bulb neuropathies of the D�jerine-Sottas type

1974 • 34 citations

Segmental demyelinization in Dejerine-Sottas disease: light, phase-contrast, and electron microscopic studies.

1968 • 34 citations

Hereditary motor and sensory neuropathy of demyelinating and remyelinating type in children

1984 • 33 citations

Hypomyelination Neuropathy in a Female Newborn Presenting as Arthrogryposis Multiplex Congenita

1986 • 33 citations

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

1993 • 32 citations

Chronic Neuropathy Presenting as a Floppy Infant with Respiratory Distress

1979 • 31 citations

[A case of neonatal peripheral polyneuritis due to demyelination].

1978 • 26 citations

A case report of congenital hypomyelination

1982 • 25 citations

HYPERTROPHIC NEUROPATHY

1967 • 23 citations

Heterogeneity of Congenital Motor and Sensory Neuropathies

1985 • 23 citations

HEREDITARY MOTOR AND SENSORY NEUROPATHIES IN SWEDISH CHILDREN

1983 • 22 citations

Peripheral Neuropathy in Childhood

1991 • 21 citations

Connatal polyneuropathy ? A case with proliferated microfilaments in schwann cells

1981 • 21 citations

Variability of morphological features in early infantile polyneuropathy with defective myelination

1987 • 20 citations

Two cases of congenital hypomyelination neuropathy

1984 • 18 citations

HEREDITARY MOTOR AND SENSORY NEUROPATHIES IN SWEDISH CHILDREN III

1983 • 12 citations

Dynamic aspects of peripheral nerve changes in progressive neural muscular atrophy

1976 • 11 citations

Sensory Neuropathy With Onion-Bulb Formation

1978 • 11 citations

Clinical and pathological features of an autosomal recessive neuropathy

1980 • 8 citations

Spinocerebellar Ataxia with Neural Myatrophy

1971 • 7 citations

AAEE case report #20: Hereditary motor and sensory neuropathy, type I

1989 • 6 citations

A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement

1987 • 6 citations