The Experts below are selected from a list of 270 Experts worldwide ranked by ideXlab platform
Giorgio Casari - One of the best experts on this subject based on the ideXlab platform.
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charcot marie tooth Disease type 2c a distinct genetic entity clinical and molecular characterization of the first european family
Neuromuscular Disorders, 2002Co-Authors: Lucio Santoro, Fiore Manganelli, L Di Maio, F Barbieri, Massimo Carella, P Dadamo, Giorgio CasariAbstract:Abstract Charcot–Marie–Tooth Disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot–Marie–Tooth Disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot–Marie–Tooth Disease type 2C but no genetic locus has been mapped for this form. We describe the first European family affected by Charcot–Marie–Tooth Disease type 2C. Genetic analysis excluded linkage to locus of Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and to locus of distal hereditary motor neuronopathy type VII. In this family the Disease has high penetrance, variable severity and apparently the most severe limb muscle involvement in the youngest generation. Vocal cord paralysis is unrelated to the degree of muscular weakness and patients with the most severe muscle involvement have absent or minimal respiratory symptoms. Charcot–Marie–Tooth Disease type 2C is clinically and genetically different from Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII.
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Charcot–Marie–Tooth Disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
Neuromuscular Disorders, 2002Co-Authors: Lucio Santoro, Fiore Manganelli, L Di Maio, F Barbieri, Massimo Carella, P. D'adamo, Giorgio CasariAbstract:Abstract Charcot–Marie–Tooth Disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot–Marie–Tooth Disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot–Marie–Tooth Disease type 2C but no genetic locus has been mapped for this form. We describe the first European family affected by Charcot–Marie–Tooth Disease type 2C. Genetic analysis excluded linkage to locus of Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and to locus of distal hereditary motor neuronopathy type VII. In this family the Disease has high penetrance, variable severity and apparently the most severe limb muscle involvement in the youngest generation. Vocal cord paralysis is unrelated to the degree of muscular weakness and patients with the most severe muscle involvement have absent or minimal respiratory symptoms. Charcot–Marie–Tooth Disease type 2C is clinically and genetically different from Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII.
Lucio Santoro - One of the best experts on this subject based on the ideXlab platform.
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charcot marie tooth Disease type 2c a distinct genetic entity clinical and molecular characterization of the first european family
Neuromuscular Disorders, 2002Co-Authors: Lucio Santoro, Fiore Manganelli, L Di Maio, F Barbieri, Massimo Carella, P Dadamo, Giorgio CasariAbstract:Abstract Charcot–Marie–Tooth Disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot–Marie–Tooth Disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot–Marie–Tooth Disease type 2C but no genetic locus has been mapped for this form. We describe the first European family affected by Charcot–Marie–Tooth Disease type 2C. Genetic analysis excluded linkage to locus of Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and to locus of distal hereditary motor neuronopathy type VII. In this family the Disease has high penetrance, variable severity and apparently the most severe limb muscle involvement in the youngest generation. Vocal cord paralysis is unrelated to the degree of muscular weakness and patients with the most severe muscle involvement have absent or minimal respiratory symptoms. Charcot–Marie–Tooth Disease type 2C is clinically and genetically different from Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII.
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Charcot–Marie–Tooth Disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
Neuromuscular Disorders, 2002Co-Authors: Lucio Santoro, Fiore Manganelli, L Di Maio, F Barbieri, Massimo Carella, P. D'adamo, Giorgio CasariAbstract:Abstract Charcot–Marie–Tooth Disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot–Marie–Tooth Disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot–Marie–Tooth Disease type 2C but no genetic locus has been mapped for this form. We describe the first European family affected by Charcot–Marie–Tooth Disease type 2C. Genetic analysis excluded linkage to locus of Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and to locus of distal hereditary motor neuronopathy type VII. In this family the Disease has high penetrance, variable severity and apparently the most severe limb muscle involvement in the youngest generation. Vocal cord paralysis is unrelated to the degree of muscular weakness and patients with the most severe muscle involvement have absent or minimal respiratory symptoms. Charcot–Marie–Tooth Disease type 2C is clinically and genetically different from Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII.
Kiyoshi Hayasaka - One of the best experts on this subject based on the ideXlab platform.
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neurofilament light chain polypeptide gene mutations in charcot marie tooth Disease nonsense mutation probably causes a recessive phenotype
Journal of Human Genetics, 2009Co-Authors: Chikahiko Numakura, Kayoko Saito, Hiroyoshi Koide, Akira Honma, Yumiko Kishikawa, Kiyoshi HayasakaAbstract:Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth Disease: nonsense mutation probably causes a recessive phenotype
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Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth Disease.
Tohoku Journal of Experimental Medicine, 1999Co-Authors: Chikahiko Numakura, Tohru Ikegami, Masami Shizuka, Mikio Shoji, Garth A. Nicholson, Kiyoshi HayasakaAbstract:Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth Disease were identified to carry the mutations of the connexin (Cx) 32 gene. One of the patient had a novel nonsense mutation of tryptophan at amino acid 132 and the other had a deletion of the Cx 32 gene. Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth Disease.
Stefan Koppi - One of the best experts on this subject based on the ideXlab platform.
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De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth Disease.
Brain, 2016Co-Authors: William W. Motley, Paulius Palaima, Michael Gonzalez, Julia Wanschitz, Alleene V. Strickland, Wolfgang N. Löscher, Els De Vriendt, Stefan KoppiAbstract:We performed whole exome sequencing on a patient with Charcot–Marie–Tooth Disease type 1 and identified a de novo mutation in PMP2 , the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophysiological evidence of demyelinating neuropathy. We then screened a cohort of 136 European probands with uncharacterized genetic cause of Charcot–Marie–Tooth Disease and identified another family with Charcot–Marie–Tooth Disease type 1 that has a mutation affecting an adjacent amino acid (p.Thr51Pro), which segregates with Disease. Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot–Marie–Tooth Disease type 1. * Abbreviations : CMT = : Charcot–Marie–Tooth Disease HMSN = : hereditary motor and sensory neuropathy
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De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth Disease.
Brain : a journal of neurology, 2016Co-Authors: William W. Motley, Paulius Palaima, Julia Wanschitz, Alleene V. Strickland, Wolfgang N. Löscher, Els De Vriendt, Michael A Gonzalez, Stefan KoppiAbstract:We performed whole exome sequencing on a patient with Charcot-Marie-Tooth Disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophysiological evidence of demyelinating neuropathy. We then screened a cohort of 136 European probands with uncharacterized genetic cause of Charcot-Marie-Tooth Disease and identified another family with Charcot-Marie-Tooth Disease type 1 that has a mutation affecting an adjacent amino acid (p.Thr51Pro), which segregates with Disease. Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie-Tooth Disease type 1.
L Di Maio - One of the best experts on this subject based on the ideXlab platform.
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charcot marie tooth Disease type 2c a distinct genetic entity clinical and molecular characterization of the first european family
Neuromuscular Disorders, 2002Co-Authors: Lucio Santoro, Fiore Manganelli, L Di Maio, F Barbieri, Massimo Carella, P Dadamo, Giorgio CasariAbstract:Abstract Charcot–Marie–Tooth Disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot–Marie–Tooth Disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot–Marie–Tooth Disease type 2C but no genetic locus has been mapped for this form. We describe the first European family affected by Charcot–Marie–Tooth Disease type 2C. Genetic analysis excluded linkage to locus of Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and to locus of distal hereditary motor neuronopathy type VII. In this family the Disease has high penetrance, variable severity and apparently the most severe limb muscle involvement in the youngest generation. Vocal cord paralysis is unrelated to the degree of muscular weakness and patients with the most severe muscle involvement have absent or minimal respiratory symptoms. Charcot–Marie–Tooth Disease type 2C is clinically and genetically different from Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII.
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Charcot–Marie–Tooth Disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
Neuromuscular Disorders, 2002Co-Authors: Lucio Santoro, Fiore Manganelli, L Di Maio, F Barbieri, Massimo Carella, P. D'adamo, Giorgio CasariAbstract:Abstract Charcot–Marie–Tooth Disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot–Marie–Tooth Disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot–Marie–Tooth Disease type 2C but no genetic locus has been mapped for this form. We describe the first European family affected by Charcot–Marie–Tooth Disease type 2C. Genetic analysis excluded linkage to locus of Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and to locus of distal hereditary motor neuronopathy type VII. In this family the Disease has high penetrance, variable severity and apparently the most severe limb muscle involvement in the youngest generation. Vocal cord paralysis is unrelated to the degree of muscular weakness and patients with the most severe muscle involvement have absent or minimal respiratory symptoms. Charcot–Marie–Tooth Disease type 2C is clinically and genetically different from Charcot–Marie–Tooth Disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII.