Zobrazeno 81 - 90
of 644
pro vyhledávání: '"Bertrand Fontaine"'
Autor:
Masanori P. Takahashi, Damien Sternberg, Tomoya Kubota, Savine Vicart, Norito Kokubun, Bertrand Fontaine, Mitsuru Furuta, Yosuke Kokunai, Maki Nakaza, Daisuke Watanabe, Tatsuya Abe
Publikováno v:
Biophysical Journal. 114:636a
Autor:
Magnus R. Dias da Silva, Louis J. Ptáček, Cheah Js, Su Chin Ho, Annie W.C. Kung, Mui Cheng Liang, Rui M. B. Maciel, Matt R. Donaldson, Wallaya Jongjaroenprasert, Bertrand Fontaine, Devon Ryan, Tuck Wah Soong, Robert H. Brown, Harold S. Bernstein, D. H. C. Khoo
Publikováno v:
Cell. 140(1):88-98
Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis of various etiologies. These transient attacks resemble those of patients with familial hypokalemic periodic paralysis (hyp
Autor:
Alexander Lossos, J.-M. Burgunder, Massimo Zeviani, Timothy Lynch, Chantal M. E. Tallaksen, Bertrand Fontaine, Z. Szolnoki, S. Di Donato, C. Van Broeckhoven, T. Gasser, P. De Jonghe, Josef Finsterer, Caterina Mariotti, Jonathan Baets, Ludger Schöls, Hanne F. Harbo, Antonella Spinazzola, Sarah J. Tabrizi
Publikováno v:
European Journal of Neurology. 17:179-188
Background and purpose: These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders.
Autor:
Antonella Spinazzola, Josef Finsterer, Sarah J. Tabrizi, Massimo Zeviani, Caterina Mariotti, Jonathan Baets, Bertrand Fontaine, P. De Jonghe, C. Van Broeckhoven, Ludger Schöls, Hanne F. Harbo, Alexander Lossos, J.-M. Burgunder, Timothy Lynch, T. Gasser, Z. Szolnoki, Chantal M. E. Tallaksen, S. Di Donato
Publikováno v:
European Journal of Neurology. 16:1255-1264
Objectives: These European Federation of Neurological Sciences (EFNS) guidelines are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics for diagnosing mitochondrial disorders (MIDs), which gai
Autor:
Bertrand Isidor, Lucie Guyant-Maréchal, Olivier Chazouillères, Alexis Brice, Patrick F. Chinnery, Dominique Wendum, Alexandra Durr, Maria Tsaousidou, Chokri Mhiri, Fanny Mochel, D. Grid, Jeremy Truchetto, Françoise Chevy, Sylvie Forlani, Jean-Philippe Azulay, Cyril Goizet, Amir Boukhris, João Guimarães, Paula Coutinho, Christian Beetz, Andrew H. Crosby, Imed Feki, Christelle Tesson, Claude Wolf, Giovanni Stevanin, Bertrand Fontaine
Publikováno v:
Brain. 132:1589-1600
Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified. Autosomal recessive forms of spastic paraplegias usually have clinically complex phenotypes but the SPG5, SPG24 and SPG28 l
Publikováno v:
The Journal of Physiology. 587:1705-1714
The Q270K mutation of the skeletal muscle Na+ channel α subunit (Nav1.4) causes atypical paramyotonia with a striking sensitivity to cold. Attacks of paralysis and a drop in the compound muscle action potential (CMAP) are exclusively observed at col
Autor:
Sophie Nicole, Marie Bangratz, Christophe Marcel, Bertrand Fontaine, Jean-Philippe Loeffler, Andoni Echaniz-Laguna, Frédérique René
Publikováno v:
Muscle & Nerve. 40:55-61
Schwartz-Jampel syndrome (SJS) is an autosomal-recessive condition characterized by muscle stiffness and chondrodysplasia. It is due to loss-of-function hypomorphic mutations in the HSPG2 gene that encodes for perlecan, a proteoglycan secreted into t
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 80:360-365
The skeletal muscle fibre membrane plays a major role in muscle contraction by generating and propagating action potentials, and linking the latter to the release of intracellular calcium stores which triggers mechanical contraction. This function re
Autor:
Bertrand Fontaine
Publikováno v:
Bulletin de l'Académie Nationale de Médecine. 192:1543-1550
Periodic paralyses are neuromuscular disorders characterized by attacks of muscle weakness coinciding with changes in blood potassium levels. They are thus classified as hypokalaemic, normokalaemic or hyperkalaemic. Most forms are genetic, with autos
Autor:
Gilles Edan, Marie-Claude Babron, M. Rosenheim, Bertrand Fontaine, Hervé Perdry, Gout C, Mehdi Alizadeh, J. Yaouanq, Emmanuelle Leray, Gilbert Semana, Emmanuelle Génin, Françoise Clerget-Darpoux, David Brassat, Cournu-Rebeix I, Jérémie F. Cohen
Publikováno v:
Genes & Immunity. 9:570-574
Most of the published works so far have aimed at finding genes associated with multiple sclerosis (MS) susceptibility. Very few studies have attempted to correlate disease features with DNA variants. In a well-characterized sample (651 patients) repr