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Hereditary Motor and Sensory-Neuropathy Type II

Known as: Neuropathy, Type II Hereditary Motor and Sensory, HMSN II, HMSN Type II 
National Institutes of Health

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Related topics

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Broader (1)

Charcot-Marie-Tooth Disease
Hereditary Sensory Autonomic Neuropathy, Type 2Morvan's DiseaseSyringomyelia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
The axonal type of Charcot‑Marie‑Tooth (CMT) disorders is genetically heterogeneous, therefore the causal mutation is unlikely to… 
2004
2004
The leakage of serum proteins across the blood-nerve barrier in hereditary and inflammatory neuropathies
SummaryThe leakage of eight different serum proteins and immunoglobulins across the blood-nerve barrier (BNB) was studied by… 
1999
1999
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.
BACKGROUND Three loci for autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth… 
Highly Cited
1998
Highly Cited
1998
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), is a clinically and genetically… 
Highly Cited
1997
Highly Cited
1997
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
BACKGROUND: Charcot-Marie-Tooth disease type 2 (CMT2) or hereditary motor and sensory neuropathy type II (HMSN II) is an… 
Highly Cited
1994
Highly Cited
1994
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
We describe two kindreds with an autosomal dominant inherited disorder characterized by a variable degree of muscle weakness of… 
1992
1992
Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree
1991
1991
Visual and brainstem auditory evoked potentials in hereditary motor-sensory neuropathy.
Visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were recorded in 57 children and adults with… 
Highly Cited
1990
Highly Cited
1990
Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: A magnetic stimulation study
Central motor conduction to the small hand muscles was investigated in 59 patients with peroneal muscular atrophy and hereditary… 
1983
1983
HEREDITARY MOTOR AND SENSORY NEUROPATHIES IN SWEDISH CHILDREN I
ABSTRACT. The prevalence of hereditary motor and sensory neuropathies (HMSN) and their distribution according to the severity of… 
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