Results 11 to 20 of about 6,888,845 (215)
Charcot–Marie–Tooth Disease [PDF]
Journal of Rawalpindi Medical College, 2018 Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus.The disease illustrates a multitude of ...
Hafiz Muhammad Noman, Haleema Akbar et al
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Ascorbic Acid in Charcot-Marie-Tooth Disease
Pediatric Neurology Briefs, 2009 Ascorbic acid has been shown to reduce demyelination and improve muscle function in a transgenic mouse model of Charcot-Marie-Tooth disease (CMT1A).
J Gordon Millichap
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Connexin32 and X-linked Charcot–Marie–Tooth Disease [PDF]
Neurobiology of Disease, 1997 Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein.
Linda Jo Bone +4 more
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Genetics of Charcot-Marie-Tooth Disease
Pediatric Neurology Briefs, 1998 The nomenclature, classification, and genetic basis of Charcot-Marie-Tooth (CMT) disease are reviewed from the Department of Molecular and Cell Biology, University of Aberdeen Medical School, Scotland.
J Gordon Millichap
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Early Onset Charcot-Marie-Tooth Disease
Pediatric Neurology Briefs, 2005 The clinical signs and genetic analysis of early-onset Charcot-Marie-Tooth disease (CMT) in a 2-year-old boy and members of his family are reported from the Academic Medical Center, Amsterdam, and Sophia Children’s Hospital, Rotterdam, the Netherlands.
J Gordon Millichap
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POLG1 Mutations and Charcot-Marie-Tooth Disease
Pediatric Neurology Briefs, 2008 A 35-year-old man first diagnosed with autosomal recessive Charcot-Marie-Tooth disease type 2 at 22 years of age had an abnormal gait and pes cavus at age 10 years.
J Gordon Millichap
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Charcot-Marie-Tooth Disease Subtypes and Genetics
Pediatric Neurology Briefs, 2011 Researchers at Wayne State University School of Medicine, Detroit, MI, identified distinguishing clinical and physiological features of subtypes of Charcot-Marie-Tooth (CMT) disease among 787 patients that could be used to direct genetic testing.
J Gordon Millichap
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Arquivos de Neuro-Psiquiatria, 1972 Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída ...
Charles Peter Tilbery +3 more
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Pathogenic genes of autosomal dominant Charcot⁃Marie⁃Tooth disease in a Chinese pedigree
Chinese Journal of Contemporary Neurology and Neurosurgery, 2010 Objective To analyse the location of pathogenic genes of autosomal dominant Charcot⁃Marie⁃Tooth disease (CMT, peroneal atrophy) in a Chinese pedigree.
Shun⁃chang SUN +4 more
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Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission [PDF]
, 2013 Mitochondria and peroxisomes can be fragmented by the process of fission. The fission machineries of both organelles share a set of proteins. GDAP1 is a tail-anchored protein of mitochondria and induces mitochondrial fragmentation.
A Niemann (21832274) +4 more
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