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Results: 1-25 | 26-36
Results: 1-25/36
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor
Authors: Monnier, N Romero, NB Lerale, J Landrieu, P Nivoche, Y Fardeau, M Lunardi, J
Citation: N. Monnier et al., Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor, HUM MOL GEN, 10(22), 2001, pp. 2581-2592
Kiichi Arahata (1946-2000) - Obituary
Authors: Fardeau, M Tome, F
Citation: M. Fardeau et F. Tome, Kiichi Arahata (1946-2000) - Obituary, NEUROMUSC D, 11(2), 2001, pp. 219-219
Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation
Authors: Barthelemy, C de Baulny, HO Diaz, J Cheval, MA Frachon, P Romero, N Goutieres, F Fardeau, M Lombes, A
Citation: C. Barthelemy et al., Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation, ANN NEUROL, 49(5), 2001, pp. 607-617
Proximal myotonial myopathy (PROMM): clinical and histology study.
Authors: Bassez, G Attarian, S Laforet, P Azulay, JP Rouche, A Ferrer, X Urtizberea, JA Pellissier, JF Duboc, D Fardeau, M Pouget, J Eymard, B
Citation: G. Bassez et al., Proximal myotonial myopathy (PROMM): clinical and histology study., REV NEUROL, 157(2), 2001, pp. 209-218
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
Authors: Aoki, M Liu, J Richard, I Bashir, R Britton, S Keers, SM Oeltjen, J Brown, HEV Marchand, S Bourg, N Beley, C McKenna-Yasek, D Arahata, K Bohlega, S Cupler, E Illa, I Majneh, I Barohn, RJ Urtizberea, JA Fardeau, M Amato, A Angelini, C Bushby, K Beckmann, JS Brown, RH
Citation: M. Aoki et al., Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy, NEUROLOGY, 57(2), 2001, pp. 271-278
Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation - Reply
Authors: Laforet, P Eymard, B Fardeau, M Caillaud, C Nicolino, M Poenaru, L
Citation: P. Laforet et al., Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation - Reply, NEUROLOGY, 57(10), 2001, pp. 1938-1938
Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy
Authors: Cornu, C Goubel, F Fardeau, M
Citation: C. Cornu et al., Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy, J PHYSL LON, 533(2), 2001, pp. 605-616
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders
Authors: Sternberg, D Chatzoglou, E Laforet, P Fayet, G Jardel, C Blondy, P Fardeau, M Amselem, S Eymard, B Lombes, A
Citation: D. Sternberg et al., Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders, BRAIN, 124, 2001, pp. 984-994
X-linked vacuolated myopathy - TNF-alpha and IFN-gamma expression in muscle fibers with MHC class I on sarcolemma
Authors: Rouger, K Louboutin, JP Villanova, M Cherel, Y Fardeau, M
Citation: K. Rouger et al., X-linked vacuolated myopathy - TNF-alpha and IFN-gamma expression in muscle fibers with MHC class I on sarcolemma, AM J PATH, 158(2), 2001, pp. 355-359
Age-related morphological changes of the deltoid muscle from 50 to 79 years of age
Authors: Fayet, G Rouche, A Hogrel, JY Tome, FMS Fardeau, M
Citation: G. Fayet et al., Age-related morphological changes of the deltoid muscle from 50 to 79 years of age, ACT NEUROP, 101(4), 2001, pp. 358-366
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
Authors: Monnier, N Romero, NB Lerale, J Nivoche, Y Qi, D MacLennan, DH Fardeau, M Lunardi, J
Citation: N. Monnier et al., An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor, HUM MOL GEN, 9(18), 2000, pp. 2599-2608
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions
Authors: Crosbie, RH Lim, LE Moore, SA Hirano, M Hays, AP Maybaum, SW Collin, H Dovico, SA Stolle, CA Fardeau, M Tome, FMS Campbell, KP
Citation: Rh. Crosbie et al., Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions, HUM MOL GEN, 9(13), 2000, pp. 2019-2027
Rene Couteaux (1909-1999) - Obituary
Authors: Fardeau, M
Citation: M. Fardeau, Rene Couteaux (1909-1999) - Obituary, NEUROMUSC D, 10(7), 2000, pp. 537-538
Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases
Authors: Ferreiro, A Estournet, B Chateau, D Romero, NB Laroche, C Odent, S Toutain, A Cabello, A Fontan, D dos Santos, HG Haenggeli, CA Bertini, E Urtizberea, JA Guicheney, P Fardeau, M
Citation: A. Ferreiro et al., Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases, ANN NEUROL, 48(5), 2000, pp. 745-757
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Authors: Bonne, G Mercuri, E Muchir, A Urtizberea, A Becane, HM Recan, D Merlini, L Wehnert, M Boor, R Reuner, U Vorgerd, M Wicklein, EM Eymard, B Duboc, D Penisson-Besnier, I Cuisset, JM Ferrer, X Desguerre, I Lacombe, D Bushby, K Pollitt, C Toniolo, D Fardeau, M Schwartz, K Muntoni, F
Citation: G. Bonne et al., Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, ANN NEUROL, 48(2), 2000, pp. 170-180
X-linked vacuolar myopathies: Two separate loci and refined genetic mapping
Authors: Auranen, M Villanova, M Muntoni, F Fardeau, M Scherer, SW Kalino, H Minassian, BA
Citation: M. Auranen et al., X-linked vacuolar myopathies: Two separate loci and refined genetic mapping, ANN NEUROL, 47(5), 2000, pp. 666-669
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
Authors: Becane, HM Bonne, G Varnous, S Muchir, A Ortega, V Hammouda, E Urtizberea, JA Lavergne, T Fardeau, M Eymard, B Weber, S Schwartz, K Duboc, D
Citation: Hm. Becane et al., High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation, PACE, 23(11), 2000, pp. 1661-1666
Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alpha beta-cristallin gene
Authors: Fardeau, M Vicart, P Caron, A Chateau, D Chevallay, M Collin, H Chapon, F Duboc, D Eymard, B Tome, FMS Dupret, JM Paulin, D Guicheney, P
Citation: M. Fardeau et al., Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alpha beta-cristallin gene, REV NEUROL, 156(5), 2000, pp. 497-504
Miyoshi distal myopathy: specific signs and incidence.
Authors: Eymard, B Laforet, P Tome, FMS Collin, H Leroy, JP Hauw, JJ Richard, I Beckmann, J Fardeau, M
Citation: B. Eymard et al., Miyoshi distal myopathy: specific signs and incidence., REV NEUROL, 156(2), 2000, pp. 161-168
MELAS (A3243G) mutation of mitochondrial DNA: a study of the relationshipsbetween the clinical phenotype in 19 patients and morphological and molecular data.
Authors: Laforet, P Ziegler, F Sternberg, D Rouche, A Frachon, P Fardeau, M Eymard, B Lombes, A
Citation: P. Laforet et al., MELAS (A3243G) mutation of mitochondrial DNA: a study of the relationshipsbetween the clinical phenotype in 19 patients and morphological and molecular data., REV NEUROL, 156(12), 2000, pp. 1136-1147
Juvenile and adult-onset acid maltase deficiency in France - Genotype-phenotype correlation
Authors: Laforet, P Nicolino, M Eymard, B Puech, JP Caillaud, C Poenaru, L Fardeau, M
Citation: P. Laforet et al., Juvenile and adult-onset acid maltase deficiency in France - Genotype-phenotype correlation, NEUROLOGY, 55(8), 2000, pp. 1122-1128
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated I kappa B alpha/nuclear factor kappa B pathway perturbation in mice
Authors: Richard, I Roudaut, C Marchand, S Baghdiguian, S Herasse, M Stockholm, D Ono, Y Suel, L Bourg, N Sorimachi, H Lefranc, G Fardeau, M Sebille, A Beckmann, JS
Citation: I. Richard et al., Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated I kappa B alpha/nuclear factor kappa B pathway perturbation in mice, J CELL BIOL, 151(7), 2000, pp. 1583-1590
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)
Authors: Xu, MQ Feldman, G Le Merrer, M Shugart, YY Glaser, DL Urtizberea, JA Fardeau, M Connor, JM Triffitt, J Smith, R Shore, EM Kaplan, FS
Citation: Mq. Xu et al., Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP), CLIN GENET, 58(4), 2000, pp. 291-298
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31
Authors: Feldman, G Li, M Martin, S Urbanek, M Urtizberea, JA Fardeau, M LeMerrer, M Connor, JM Triffitt, J Smith, R Muenke, M Kaplan, FS Shore, EM
Citation: G. Feldman et al., Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31, AM J HU GEN, 66(1), 2000, pp. 128-135
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A (vol 5, pg 503, 1999)
Authors: Baghdiguian, S Martin, M Richard, I Pons, F Astier, C Bourg, N Hay, RT Chemaly, R Halaby, G Loiselet, J Anderson, LVB de Munain, AL Fardeau, M Mangeat, P Beckmann, JS Lefranc, G
Citation: S. Baghdiguian et al., Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A (vol 5, pg 503, 1999), NAT MED, 5(7), 1999, pp. 849-849
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