Charcot-Marie-Tooth disease, Type 4B2

Known as: CMT4B2, Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2, Charcot-Marie-Tooth Neuropathy, Type 4B2 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2015
01220032015

Papers overview

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2015
2015
Our patient is a 65-year-old woman presenting with bilateral pes cavus, pronounced distal muscle wasting, weakness and areflexia… (More)
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2014
2014
Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma (CMT4B2, OMIM 604563) is a genetically-heterogeneous childhood… (More)
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2014
2014
INTRODUCTION CMT4B2 is a rare subtype of CMT caused by pathogenic mutations in the myotubularin-related protein-13/set binding… (More)
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2013
2013
The demyelinating peripheral neuropathy Charcot-Marie-Tooth type 4B (CMT4B) is characterized by axonal degeneration and myelin… (More)
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2008
2008
Charcot-Marie-Tooth disease type 4B (CMT4B) is a severe, demyelinating peripheral neuropathy characterized by slowed nerve… (More)
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2007
2007
Charcot-Marie-Tooth (CMT) disease denotes a large group of genetically heterogeneous hereditary motor and sensory neuropathies… (More)
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2006
2006
Autosomal recessive hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth disease (CMT) is a clinically and… (More)
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Review
2006
Review
2006
To clarify the specific features and molecular mechanisms of five diseases that we previously reported, we reviewed recent… (More)
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Highly Cited
2003
Highly Cited
2003
Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and… (More)
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