Search Results - "Chaigne, D"

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management by Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., Fritsch, M., Delaunoy, J. P., Stoppa-Lyonnet, D., Tranchant, C., Koenig, M.

“…While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal recessive cerebellar ataxia (ARCA),…”
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Regional cerebral glucose metabolism in epilepsies with continuous spikes and waves during sleep by DE TIEGE, X, GOLDMAN, S, HIRSCH, E, DULAC, O, VAN BOGAERT, P, LAUREYS, S, VERHEULPEN, D, CHIRON, C, WETZBURGER, C, PAQUIER, P, CHAIGNE, D, POZNANSKI, N, JAMBAQUE, I

“…Epileptic syndromes with continuous spikes and waves during sleep (CSWS) represent a wide spectrum of epileptic conditions associated with cognitive…”
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Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31 by LAGIER-TOURENNE, C, TRANEBJAERG, L, CHAIGNE, D, GRIBAA, M, DOLLFUS, H, SILVESTRI, G, BETARD, C, WARTER, J. M, KOENIG, M

“…Marinesco-Sjögren syndrome (MSS), first described in 1931, is an autosomal recessive condition characterised by somatic and mental retardation, congenital…”
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Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon by Rederstorff, M, Allamand, V, Guicheney, P, Gartioux, C, Richard, P, Chaigne, D, Krol, A, Lescure, A

“…Premature termination of translation due to nonsense mutations is a frequent cause of inherited diseases. Therefore, many efforts were invested in the…”
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature by Anheim, M, Chaigne, D, Fleury, M, Santorelli, F M, De Sèze, J, Durr, A, Brice, A, Koenig, M, Tranchant, C

“…The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a cerebellar ataxia autosomal recessively inherited characterized by an ataxic and…”
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Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome by Lagier-Tourenne, C, Chaigne, D, Gong, J, Flori, J, Mohr, M, Ruh, D, Christmann, D, Flament, J, Mandel, J-L, Koenig, M, Dollfus, H

“…Key points Congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndromes are two entities with major clinical overlap…”
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M.O.1 Muscular manifestations of very long-chain acyl-coenzyme A dehydrogenase deficiency: A clinical, and biochemical study in 12 patients by Laforêt, P, Acquaviva-Bourdain, C, Rigal, O, Brivet, M, Pénisson-Besnier, I, Chabrol, B, Chaigne, D, Boespflug-Tanguy, O, Laroche, C, Bedat-Millet, A, Lombès, A, Andresen, B, Eymard, B, Vianey-Saban, C

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C.P.2.03 Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients by Quijano-Roy, S, Allamand, V, Riahi, N, Gartioux, C, Briñas, L, Leclair-Richard, D, Zeller, R, Ledeuil, C, Commare, M, Viollet, L, Bönnemann, C, Mayer, M, Chaigne, D, Essid, N, Renault, F, Barois, A, Ferreiro, A, Romero, N, Richard, P, Guicheney, P, Estournet, B

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Ataxie spastique autosomique récessive de Charlevoix-Saguenay : étude d’une famille et revue de la littérature by Anheim, M., Chaigne, D., Fleury, M., Santorelli, F.M., De Sèze, J., Durr, A., Brice, A., Koenig, M., Tranchant, C.

“…L’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS) est une ataxie cérébelleuse de transmission autosomique récessive caractérisée par un…”
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Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency by Lissens, Willy, De Meirleir, Linda, Seneca, Sara, Benelli, Chantal, Marsac, Cécile, Poll-The, Bwee Tien, Briones, Paz, Ruitenbeek, Wim, van Diggelen, Otto, Chaigne, Denis, Ramaekers, Vincent, Liebaers, Ingeborg

“…Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X‐linked E1α gene. We have developed a rapid screening method…”
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Mutations of SCN1A , encoding a neuronal sodium channel, in two families with GEFS+2 by Meisler, Miriam H, Brice, Alexis, Escayg, Andrew, Baulac, Stéphanie, Chaigne, Denys, An-Gourfinkel, Isabelle, Huberfeld, Gilles, LeGuern, Eric, Moulard, Bruno, Malafosse, Alain, MacDonald, Bryan T, Buresi, Catherine

“…Generalized epilepsy with febrile seizures plus type 2 (GEFS+2, MIM 604233) is an autosomal dominant disorder characterized by febrile seizures in children and…”
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The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone by Kopra, Outi, Udd, Bjarne, Kalimo, Hannu, Tranebjaerg, Lisbeth, Anttonen, Mikko, Eeg-Olofsson, Orvar, Joensuu, Tarja, Mahjneh, Ibrahim, Hämäläinen, Riikka H, Anttonen, Anna-Kaisa, Chaigne, Denys, Koenig, Michel, Lagier-Tourenne, Clotilde, Lehesjoki, Anna-Elina, Waris, Laura, Somer, Hannu, Paetau, Anders, Somer, Mirja

“…We identified the gene underlying Marinesco-Sjögren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified…”
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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome by Merlini, Luciano, Moghadaszadeh, Behzad, Chaigne, Denys, Brockington, Martin, Topaloglu, Haluk, Estournet, Brigitte, Jaillard, Céline, Romero, Norma, Desguerre, Isabelle, Muntoni, Francesco, Roy, Susana Quijano, Guicheney, Pascale, Petit, Nathalie

“…One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771), is a rare neuromuscular disorder characterized by early rigidity of the spine and…”
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Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33 by Moulard, Bruno, Chaigne, Denys, Mouthon, Dominique, Buresi, Catherine, Guipponi, Michel, Malafosse, Alain

“…We report the identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+). Six family members manifested isolated typical febrile…”
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Isolated intention tremor: a sign of metastatic neuroblastoma by Lutz, P, Chaigne, D, Levy, J M

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Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon by Rederstorff, M., Allamand, V., Guicheney, P., Gartioux, C., Richard, P., Chaigne, D., Krol, A., Lescure, A.

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Neonatal echovirus encephalitis with white matter necrosis by Haddad, J, Messer, J, Gut, J P, Chaigne, D, Christmann, D, Willard, D

“…The authors report a case of neonatal echovirus encephalitis associated with white matter necrosis. The pattern of illness in the neonatal period was diphasic,…”
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T.O. 3 Rescue of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a homozygous mutation in the selenocysteine codon of SEPN1 by Allamand, V., Richard, P., Ledeuil, C., Chaigne, D., Guicheney, P., Krol, A., Lescure, A.

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Ataxie spastique autosomique récessive de Charlevoix-Saguenay : étude d’une famille et revue de la littérature by Anheim, Mathieu, Chaigne, Denys, Fleury, Marie-Céline, Santorelli, Filippo Maria, de Sèze, Jérôme, Durr, Alexandra, Bricé, Alexis, Koenig, Michel, Tranchant, Christine

“…The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a cerebellar ataxia autosomal recessively inherited characterized by an ataxic and…”
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Congenital hyperekplexia : five sporadic cases by RIVERA, Serge, VILLEGA, Frédéric, DE SAINT-MARTIN, Anne, MATIS, Jacqueline, ESCANDE, Benoit, CHAIGNE, Denys, ASTRUC, Dominique

“…We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates…”
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