نتایج جستجو برای: marie
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background and aims: charcot marie tooth disease (cmt) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. cmt is a heterogeneous disease and has different clinical symptoms. the prevalence of cmt and involved genes differ in different countries. cmt patients experience considerable sleep problems and a higher risk of decreased quality of life. in this work it was aimed ...
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this w...
Andrée-Anne Houde ([email protected]) Cécilia Légaré ([email protected]) Simon Biron ([email protected]) Odette Lescelleur ([email protected]) Laurent Biertho ([email protected]) Simon Marceau ([email protected]) André Tchernof ([email protected]) Marie-Claude Vohl ([email protected]) Marie-Fran...
Sixty-seven patients in 29 families with the diagnosis of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy in northern Sweden were examined by pedigree and DNA analysis for the CMT1a duplication within chromosome 17p11.2. There were 39 patients in nine families with Charcot-Marie-Tooth type 1 and autosomal dominant inheritance and in all these cases the duplication was see...
charcot-marie-tooth disease (cmt) is the most common inherited neurological disorder, affecting both motor and sensory peripheral nerves. neurophysiological patterns divide cmt into three main groups: demyelinating cmt1 (upper limb motor nerve conduction velocity (mncv) <38 m/s), axonal cmt2 (mncv >38 m/s) and intermediate cmt (mncv 25-45 m/s). cmt has been also categorized based on the mode of...
Cardiovascular Research Center. Mount Sinai School of Medicine, New York, NY; Inserm UMRS 956, Université Pierre et Marie Curie-Paris 6, Paris, France; LIA/Transatlantic Cardiovascular Research Center Université Pierre et Marie Curie/Mount Sinai School of Medicine, New York, NY; INSERM U770, University Paris Sud, Le Kremlin-Bicêtre, France; PECMV-Université Pierre et Marie Curie-Paris, Paris, F...
Hematologic and hemorheological determinants of resting and exercise-induced hemoglobin oxygen desaturation in children with sickle cell disease Xavier Waltz, Marc Romana, Marie-Laure LalanneMistrih, Roberto F. Machado, Yann Lamarre, Vanessa Tarer, Marie-Dominique Hardy-Dessources, Benoît Tressières, Lydia Divialle-Doumdo, Marie Petras, Frederic Maillard, Maryse Etienne-Julan, and Philippe Connes
ALI SI-MOHAMED,* LAURENT ANDREOLETTI, ISABELLE COLOMBET, MARIE-PAULE CARRENO, GLADYS LOPEZ, GILLES CHATELIER, MICHEL D. KAZATCHKINE, AND LAURENT BELEC Laboratoire de Virologie, Hôpital Européen Georges Pompidou, INSERM Unité 430 and Université Pierre et Marie Curie (Université Paris VI), Hôpital Broussais, and Département de Statistiques, Université Pierre et Marie Curie, Paris, France, and Lab...
We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) - the most common Charcot Marie Tooth disease type 4J variant - and c.1949-10T>G (intronic). Proband fibroblasts showed absent FIG4 protein on western blot, and skipping of exon...
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