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    1. Monnier, N; Romero, NB; Lerale, J; Landrieu, P; Nivoche, Y; Fardeau, M; Lunardi, J
      Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

      HUMAN MOLECULAR GENETICS
    2. Fardeau, M; Tome, F
      Kiichi Arahata (1946-2000) - Obituary

      NEUROMUSCULAR DISORDERS
    3. Barthelemy, C; de Baulny, HO; Diaz, J; Cheval, MA; Frachon, P; Romero, N; Goutieres, F; Fardeau, M; Lombes, A
      Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

      ANNALS OF NEUROLOGY
    4. Bassez, G; Attarian, S; Laforet, P; Azulay, JP; Rouche, A; Ferrer, X; Urtizberea, JA; Pellissier, JF; Duboc, D; Fardeau, M; Pouget, J; Eymard, B
      Proximal myotonial myopathy (PROMM): clinical and histology study.

      REVUE NEUROLOGIQUE
    5. 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
      Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

      NEUROLOGY
    6. Laforet, P; Eymard, B; Fardeau, M; Caillaud, C; Nicolino, M; Poenaru, L
      Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation - Reply

      NEUROLOGY
    7. Cornu, C; Goubel, F; Fardeau, M
      Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy

      JOURNAL OF PHYSIOLOGY-LONDON
    8. Sternberg, D; Chatzoglou, E; Laforet, P; Fayet, G; Jardel, C; Blondy, P; Fardeau, M; Amselem, S; Eymard, B; Lombes, A
      Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders

      BRAIN
    9. Rouger, K; Louboutin, JP; Villanova, M; Cherel, Y; Fardeau, M
      X-linked vacuolated myopathy - TNF-alpha and IFN-gamma expression in muscle fibers with MHC class I on sarcolemma

      AMERICAN JOURNAL OF PATHOLOGY
    10. Fayet, G; Rouche, A; Hogrel, JY; Tome, FMS; Fardeau, M
      Age-related morphological changes of the deltoid muscle from 50 to 79 years of age

      ACTA NEUROPATHOLOGICA
    11. Monnier, N; Romero, NB; Lerale, J; Nivoche, Y; Qi, D; MacLennan, DH; Fardeau, M; Lunardi, J
      An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

      HUMAN MOLECULAR GENETICS
    12. Crosbie, RH; Lim, LE; Moore, SA; Hirano, M; Hays, AP; Maybaum, SW; Collin, H; Dovico, SA; Stolle, CA; Fardeau, M; Tome, FMS; Campbell, KP
      Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions

      HUMAN MOLECULAR GENETICS
    13. Fardeau, M
      Rene Couteaux (1909-1999) - Obituary

      NEUROMUSCULAR DISORDERS
    14. 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
      Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases

      ANNALS OF NEUROLOGY
    15. 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
      Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

      ANNALS OF NEUROLOGY
    16. Auranen, M; Villanova, M; Muntoni, F; Fardeau, M; Scherer, SW; Kalino, H; Minassian, BA
      X-linked vacuolar myopathies: Two separate loci and refined genetic mapping

      ANNALS OF NEUROLOGY
    17. 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
      High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation

      PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
    18. 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
      Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alpha beta-cristallin gene

      REVUE NEUROLOGIQUE
    19. Eymard, B; Laforet, P; Tome, FMS; Collin, H; Leroy, JP; Hauw, JJ; Richard, I; Beckmann, J; Fardeau, M
      Miyoshi distal myopathy: specific signs and incidence.

      REVUE NEUROLOGIQUE
    20. Laforet, P; Ziegler, F; Sternberg, D; Rouche, A; Frachon, P; Fardeau, M; Eymard, B; Lombes, A
      MELAS (A3243G) mutation of mitochondrial DNA: a study of the relationshipsbetween the clinical phenotype in 19 patients and morphological and molecular data.

      REVUE NEUROLOGIQUE
    21. Laforet, P; Nicolino, M; Eymard, B; Puech, JP; Caillaud, C; Poenaru, L; Fardeau, M
      Juvenile and adult-onset acid maltase deficiency in France - Genotype-phenotype correlation

      NEUROLOGY
    22. 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
      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

      JOURNAL OF CELL BIOLOGY
    23. 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
      Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)

      CLINICAL GENETICS
    24. 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
      Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. Lila N; Chachques JC; Fornes P; Lajos P; Carteaux JP; Fardeau M; Carpentier A
      Increasing the lenght of the latissimus dorsi muscle pedicle to enhance the efficay of cardiomyoplasty

      Basic and applied myology
    26. 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
      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)

      NATURE MEDICINE
    27. 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
      Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the I kappa B alpha/NF-kappa B pathway in limb-girdle muscular dystrophy type 2A

      NATURE MEDICINE
    28. Bonne, G; Di Barletta, MR; Varnous, S; Becane, HM; Hammouda, EH; Merlini, L; Muntoni, F; Greenberg, CR; Gary, F; Urtizberea, JA; Duboc, D; Fardeau, M; Toniolo, D; Schwartz, K
      Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

      NATURE GENETICS
    29. Vilquin, JT; Guerette, B; Puymirat, J; Yaffe, D; Tome, FMS; Fardeau, M; Fiszman, M; Schwartz, K; Tremblay, JP
      Myoblast transplantations lead to the expression of the laminin alpha 2 chain in normal and dystrophic (dy/dy) mouse muscles

      GENE THERAPY
    30. Richard, I; Bourg, N; Marchand, S; Alibert, O; Eymard, B; van der Kooi, AJ; Jackson, CE; Garcia, C; Burgunder, JM; Legum, C; de Visser, M; Fardeau, M; Beckmann, JS
      A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

      NEUROMUSCULAR DISORDERS
    31. Wallgren-Pettersson, C; Pelin, K; Hilpela, P; Donner, K; Porfirio, B; Graziano, C; Swoboda, KJ; Fardeau, M; Urtizberea, JA; Muntoni, F; Sewry, C; Dubowitz, V; Iannaccone, S; Minetti, C; Pedemonte, M; Seri, M; Cusano, R; Lammens, M; Castagna-Sloane, A; Beggs, AH; Laing, NG; de la Chapelle, A
      Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

      NEUROMUSCULAR DISORDERS
    32. Figarella-Branger, D; Putzu, GA; Bouvier-Labit, C; Pouget, J; Chateau, D; Fardeau, M; Pellissier, JF
      Adult onset reducing body myopathy

      NEUROMUSCULAR DISORDERS
    33. Blumen, SC; Brais, B; Korczyn, AD; Medinsky, S; Chapman, J; Asherov, A; Nisipeanu, P; Codere, F; Bouchard, JP; Fardeau, M; Tome, FMS; Rouleau, GA
      Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

      ANNALS OF NEUROLOGY
    34. Brais, B; Rouleau, GA; Bouchard, JP; Fardeau, M; Tome, FMS
      Oculopharyngeal muscular dystrophy

      SEMINARS IN NEUROLOGY
    35. Pelin, K; Hilpela, P; Donner, K; Sewry, C; Akkari, PA; Wilton, SD; Wattanasirichaigoon, D; Bang, ML; Centner, T; Hanefeld, F; Odent, S; Fardeau, M; Urtizberea, JA; Muntoni, F; Dubowitz, V; Beggs, AH; Laing, NG; Labeit, S; de la Chapelle, A; Wallgren-Pettersson, C
      Mutations in the nebulin gene associated with autosomal recessive nemalinemyopathy

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    36. Kherif, S; Lafuma, C; Dehaupas, M; Lachkar, S; Fournier, JG; Verdiere-Sahuque, M; Fardeau, M; Alameddine, HS
      Expression of matrix metalloproteinases 2 and 9 in regenerating skeletal muscle: A study in experimentally injured and mdx muscles

      DEVELOPMENTAL BIOLOGY
    37. Richard, I; Roudaut, C; Saenz, A; Pogue, R; Grimbergen, JEMA; Anderson, LVB; Beley, C; Cobo, AM; de Diego, C; Eymard, B; Gallano, P; Ginjaar, HB; Lasa, A; Pollitt, C; Topaloglu, H; Urtizberea, JA; de Visser, M; van der Kooi, A; Bushby, K; Bakker, E; de Munain, AL; Fardeau, M; Beckmann, JS
      Calpainopathy - A survey of mutations and polymorphisms

      AMERICAN JOURNAL OF HUMAN GENETICS
    38. TOME FMS; FARDEAU M
      HEREDITARY INCLUSION-BODY MYOPATHIES

      Current opinion in neurology
    39. LIU J; AOKI M; ILLA I; WU CY; FARDEAU M; ANGELINI C; SERRANO C; URTIZBEREA JA; HENTATI F; BENHAMIDA M; BOHLEGA S; CULPER EJ; AMATO AA; BOSSIE K; OELTJEN T; BEJAOUI K; MCKENNAYASEK D; HOSLER BA; SCHURR E; ARAHATA K; DEJONG PJ; BROWN RH
      DYSFERLIN, A NOVEL SKELETAL-MUSCLE GENE, IS MUTATED IN MIYOSHI MYOPATHY AND LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Nature genetics
    40. VICART P; CARON A; GUICHENEY P; LI ZL; PREVOST MC; FAURE A; CHATEAU D; CHAPON F; TOME F; DUPRET JM; PAULIN D; FARDEAU M
      A MISSENSE MUTATION IN THE ALPHA-B-CRYSTALLIN CHAPERONE GENE CAUSES ADESMIN-RELATED MYOPATHY

      Nature genetics
    41. BRAIS B; BOUCHARD JP; XIE YG; ROCHEFORT DL; CHRETIEN N; TOME FMS; LAFRENIERE RG; ROMMENS JM; UYAMA E; NOHIRA O; BLUMEN S; KORCYN AD; HEUTINK P; MATHIEU J; DURANCEAU A; CODERE F; FARDEAU M; ROULEAU GA
      SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

      Nature genetics
    42. MOGHADASZADEH B; DESGUERRE I; TOPALOGLU H; MUNTONI F; PAVEK S; MAYER M; SEWRY C; FARDEAU M; TOME FMS; GUICHENEY P
      IDENTIFICATION OF A NEW LOCUS FOR CONGENITAL MUSCULAR-DYSTROPHY WITH RIGID SPINE SYNDROME TO CHROMOSOME 1P35-36

      European journal of human genetics
    43. PENISSONBESNIER I; DUMEZ C; CHATEAU D; DUBAS F; FARDEAU M
      AUTOSOMAL-DOMINANT LATE ADULT-ONSET DISTAL LEG MYOPATHY

      Neuromuscular disorders
    44. ITO H; VILQUIN JT; SKUK D; ROY B; GOULET M; LILLE S; DUGRE FJ; ASSELIN I; ROY R; FARDEAU M; TREMBLAY JP
      MYOBLAST TRANSPLANTATION IN NONDYSTROPHIC DOG

      Neuromuscular disorders
    45. ANNANE D; FIORELLI M; MAZOYER B; PAPPATA S; EYMARD B; RADVANYI H; JUNIEN C; FARDEAU M; MERLET P; GAJDOS P; SYROTA A; SANSOM Y; DUBOC D
      IMPAIRED CEREBRAL GLUCOSE-METABOLISM IN MYOTONIC-DYSTROPHY - A TRIPLET-SIZE DEPENDENT PHENOMENON

      Neuromuscular disorders
    46. BRAIS B; BOUCHARD JP; TOME FMS; FARDEAU M; CODERE F; DURANCEAU A; ROULEAU GA
      GENETIC-EVIDENCE FOR THE INVOLVEMENT OF OTHER GENES IN MODULATING THESEVERITY OF OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

      Annals of neurology
    47. KHERIF S; DEHAUPAS M; LAFUMA C; FARDEAU M; ALAMEDDINE HS
      MATRIX METALLOPROTEINASES MMP-2 AND MMP-9 IN DENERVATED MUSCLE AND INJURED NERVE

      Neuropathology and applied neurobiology
    48. PENISSONBESNIER I; RICHARD I; DUBAS F; BECKMANN JS; FARDEAU M
      PSEUDOMETABOLIC EXPRESSION AND PHENOTYPIC VARIABILITY OF CALPAIN DEFICIENCY IN 2 SIBLINGS

      Muscle & nerve
    49. LOUBOUTIN JP; NAVENOT JM; VILLANOVA M; ROUGER K; MERLINI L; FARDEAU M
      X-LINKED VACUOLATED MYOPATHY - MEMBRANE ATTACK COMPLEX DEPOSITION ON THE SURFACE-MEMBRANE OF INJURED MUSCLE-FIBERS IS NOT ACCOMPANIED BY S-PROTEIN

      Muscle & nerve
    50. CORNU C; GOUBEL F; FARDEAU M
      STIFFNESS OF KNEE EXTENSORS IN DUCHENNE MUSCULAR-DYSTROPHY

      Muscle & nerve
    51. GHERARDI RK; COQUET M; CHERIN P; AUTHIER FJ; LAFORET P; BELEC L; FIGARELLABRANGER D; MUSSINI JM; PELLISSIER JF; FARDEAU M
      MACROPHAGIC MYOFASCIITIS - AN EMERGING ENTITY

      Lancet
    52. LEROYWILLIG A; CARLIER P; MORVAN D; DUBOC D; FARDEAU M
      FUNCTIONAL IMAGING OF HUMAN MUSCLE

      Revue neurologique
    53. LAFORET P; DETOMA C; EYMARD B; BECANE HM; JEANPIERRE M; FARDEAU M; DUBOC D
      CARDIAC INVOLVEMENT IN GENETICALLY CONFIRMED FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY

      Neurology
    54. TOME FMS; HE Y; CHEVALLAY M; NICOLAS V; CRUAUD C; HORI H; MIZUTA T; ESTOURNET B; BAROIS A; FARDEAU M; GUICHENEY P
      CONGENITAL MUSCULAR-DYSTROPHY WITH PARTIAL LAMININ ALPHA-2 CHAIN (MEROSIN) DEFICIENCY - IMMUNOCYTOCHEMICAL AND MOLECULAR STUDIES

      Neurology
    55. GHERARDI RK; COQUET M; CHERIN P; AUTHIER FJ; MUSSINI JM; PELISSIER JF; FARDEAU M
      MACROPHAGIC MYOFASCIITIS - A NEW EMERGING ENTITY

      Neurology
    56. PLASSARTSCHIESS E; GERVAIS A; EYMARD B; LAGUENY A; POUGET J; WARTER JM; FARDEAU M; JENTSCH TJ; FONTAINE B
      NOVEL MUSCLE CHLORIDE CHANNEL (CLCN1) MUTATIONS IN MYOTONIA-CONGENITAWITH VARIOUS MODES OF INHERITANCE INCLUDING INCOMPLETE DOMINANCE AND PENETRANCE

      Neurology
    57. GUICHENEY P; VIGNIER N; ZHANG X; HE Y; CRUAUD C; FREY V; HELBLINGLECLERC A; RICHARD P; ESTOURNET B; MERLINI L; TOPALOGLU H; MORA M; HARPEY JP; HAENGGELI CA; BAROIS A; HAINQUE B; SCHWARTZ K; TOME FMS; FARDEAU M; TRYGGVASON K
      PCR BASED MUTATION SCREENING OF THE LAMININ ALPHA-2 CHAIN GENE (LAMA2) - APPLICATION TO PRENATAL-DIAGNOSIS AND SEARCH FOR FOUNDER EFFECTS IN CONGENITAL MUSCULAR-DYSTROPHY

      Journal of Medical Genetics
    58. DUBOC D; BONNE G; BECANE HM; DIBARLETTA MR; VARNOUS S; ELHADI H; URTIZBEREA JA; TONIOLO D; FARDEAU M; SCHWARTZ K
      CLINICAL PRESENTATION AND GENETIC LOCALIZATION OF A NEW FORM OF AUTOSOMAL-DOMINANT DILATED CARDIOMYOPATHY

      Circulation
    59. CHERIN P; GHERARDI RK; EYMARD B; LAFORET P; COQUET M; MUSSINI JM; FELISSIER JP; DARRASJOLY C; FARDEAU M; HERSON S
      FOCAL INFILTRATIVE MACROPHAGIC MYOFASCIITIS - AN EMERGING ENTITY

      Arthritis and rheumatism
    60. ANDERSON LVB; DAVISON K; MOSS JA; RICHARD I; FARDEAU M; TOME FMS; HUBNER C; LASA A; COLOMER J; BECKMANN JS
      CHARACTERIZATION OF MONOCLONAL-ANTIBODIES TO CALPAIN-3 AND PROTEIN EXPRESSION IN MUSCLE FROM PATIENTS WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A

      The American journal of pathology
    61. DONGER C; KREJCI E; SERRADELL AP; EYMARD B; BON S; NICOLE S; CHATEAU D; GARY F; FARDEAU M; MASSOULIE J; GUICHENEY P
      MUTATION IN THE HUMAN ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN GENE, COLQ, IS RESPONSIBLE FOR CONGENITAL MYASTHENIC SYNDROME WITH END-PLATEACETYLCHOLINESTERASE DEFICIENCY (TYPE IC)

      American journal of human genetics
    62. MOGHADASZADEH B; DESGUERRE I; TOPALOGLU H; MUNTONI FN; PAVEK S; SEWRY C; MAYER M; FARDEAU M; TOME FMS; GUICHENEY P
      IDENTIFICATION OF A NEW LOCUS FOR A PECULIAR FORM OF CONGENITAL MUSCULAR-DYSTROPHY WITH EARLY RIGIDITY OF THE SPINE, ON CHROMOSOME 1P35-36

      American journal of human genetics
    63. JEHENSON P; DUBOC D; LAFORET P; EYMARD B; LOMBES A; FARDEAU M; BRUNET P; SYROTA A
      C-13 AND P-31 NMR FOR THE DIAGNOSIS OF MUSCULAR PHOSPHORYLASE-KINASE DEFICIENCY

      Journal de chimie physique et de physico-chimie biologique
    64. LAPORTE J; GUIRAUDCHAUMEIL C; VINCENT MC; MANDEL JL; TANNER SM; LIECHTIGALLATI S; WALLGRENPETTERSSON C; DAHL N; KRESS W; BOLHUIS PA; FARDEAU M; SAMSON F; BERTINI E
      MUTATIONS IN THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY

      Human molecular genetics
    65. GUICHENEY P; VIGNIER N; HELBLINGLECLERC A; NISSINEN M; ZHANG X; CRUAUD C; LAMBERT JC; RICHELME C; TOPALOGLU H; MERLINI L; BAROIS A; SCHWARTZ K; TOME FMS; TRYGGVASON K; FARDEAU M
      GENETICS OF LAMININ ALPHA-2 CHAIN (OR MEROSIN) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY - FROM IDENTIFICATION OF MUTATIONS TO PRENATAL-DIAGNOSIS

      Neuromuscular disorders
    66. FARDEAU M; TOME FMS
      OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN FRANCE

      Neuromuscular disorders
    67. TOME FMS; CHATEAU D; HELBLINGLECLERC A; FARDEAU M
      MORPHOLOGICAL-CHANGES IN MUSCLE-FIBERS IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    68. BRAIS B; BOUCHARD JP; GOSSELIN F; XIE YG; FARDEAU M; TOME FMS; ROULEAU GA
      USING THE FULL POWER OF LINKAGE ANALYSIS IN 11 FRENCH-CANADIAN FAMILIES TO FINE MAP THE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY GENE

      Neuromuscular disorders
    69. PERIE S; EYMARD B; LACCOURREYE L; CHAUSSADE S; FARDEAU M; STGUILY JL
      DYSPHAGIA IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY - A SERIES OF 22 FRENCH CASES

      Neuromuscular disorders
    70. PELLETIERFLEURY N; LANOE JL; FLEURY B; FARDEAU M
      COST-EFFECTIVENESS OF 2 TYPES OF STRUCTUR ES DELIVERING LONG-TERM OXYGEN-THERAPY AT HOME

      Revue d'epidemiologie et de sante publique
    71. NAVON R; KHOSRAVI R; MELKI J; DRUCKER L; FONTAINE B; TURPIN JC; NGUYEN B; FARDEAU M; RONDOT P; BAUMANN N
      JUVENILE-ONSET SPINAL MUSCULAR-ATROPHY CAUSED BY COMPOUND HETEROZYGOSITY FOR MUTATIONS IN THE HEXA GENE

      Annals of neurology
    72. LOUBOUTIN JP; VILLANOVA M; LUCASHERON B; FARDEAU M
      X-LINKED VACUOLATED MYOPATHY - MEMBRANE ATTACK COMPLEX DEPOSITION ON MUSCLE-FIBER MEMBRANES WITH CALCIUM ACCUMULATION ON SARCOLEMMA

      Annals of neurology
    73. PELLETIERFLEURY N; FARGEON V; LANOE JL; FARDEAU M
      TRANSACTION COSTS ECONOMICS AS A CONCEPTUAL-FRAMEWORK FOR THE ANALYSIS OF BARRIERS TO THE DIFFUSION OF TELEMEDICINE

      Health policy
    74. RONDOT P; NAVON R; EYMARD B; FARDEAU M; TURPIN JC; LEFEVRE M; BATHIEN N; WU Y; BAUMANN N
      JUVENILE GM2 GANGLIOSIDOSIS WITH PROGRESS IVE SPINAL MUSCULAR-ATROPHYONSET

      Revue neurologique
    75. LAFORET P; EYMARD B; DANAN C; CHEVALLAY M; ROUCHE A; FRACHON P; FARDEAU M; LOMBES A
      PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA OF M ITOCHONDRIAL ORIGIN CONTRIBUTION OF MORPHOLOGICAL AND MOLECULAR EXPLORATIONS

      Revue neurologique
    76. EYMARD B; ROMERO NB; LETURCQ F; PICCOLO F; CARRIE A; JEANPIERRE M; COLLIN H; DEBURGRAVE N; AZIBI K; CHAOUCH M; MERLINI L; THEMARNOEL C; PENISSON I; MAYER M; TANGUY O; CAMPBELL KP; KAPLAN JC; TOME FMS; FARDEAU M
      PRIMARY ADHALINOPATHY (ALPHA-SARCOGLYCANOPATHY) - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATION IN 20 PATIENTS WITH AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY

      Neurology
    77. LAFORET P; NICOLINO M; EYMARD B; PUECH JP; CAILLAUD C; POENARU L; FARDEAU M
      GENOTYPE-PHENOTYPE CORRELATION IN JUVENILE AND ADULT-ONSET ACID MALTASE DEFICIENCY

      Neurology
    78. FARDEAU M; EYMARD B; MIGNARD C; TOME FMS; RICHARD I; BECKMANN JS
      CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - COMPARISON OF THE CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES

      Neurology
    79. ASKANAS V; ALVAREZ RB; SARKOZI E; BILAK M; MIRABELLA M; TOME F; FARDEAU M; ENGEL WK
      PARTIAL EXPRESSION IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY (OPMD) MUSCLE-FIBERS OF THE INTRACELLULAR PHENOTYPE OF SPORADIC INCLUSION-BODY MYOSITIS (S-IBM)

      Neurology
    80. CARRIE A; PICCOLO F; LETURCQ F; DETOMA C; AZIBI K; BELDJORD C; VALLAT JM; MERLINI L; VOIT T; SEWRY C; URTIZBEREA JA; ROMERO N; TOME FMS; FARDEAU M; SUNADA Y; CAMPBELL KP; KAPLAN JC; JEANPIERRE M
      MUTATIONAL DIVERSITY AND HOT-SPOTS IN THE ALPHA-SARCOGLYCAN GENE IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY (LGMD2D)

      Journal of Medical Genetics
    81. NICOLINO M; PUECH JP; LETOURNEUR F; FARDEAU M; KAHN A; POENARU L
      GLYCOGEN-STORAGE-DISEASE TYPE-II (ACID MALTASE DEFICIENCY) - IDENTIFICATION OF A NOVEL SMALL DELETION (DELCC482+483) IN FRENCH PATIENTS

      Biochemical and biophysical research communications
    82. PICCOLO F; DETOMA C; CHIRON S; LAFORET P; URTIZBEREA JA; EYMARD B; FARDEAU M; KAPLAN JC; JEANPIERRE M
      PENETRANCE OF THE FSHD MUTATION DIFFERS ACCORDING TO THE D4Z4 REPEAT NUMBER

      American journal of human genetics
    83. GUIRAUDCHAUMEIL C; VINCENT MC; LAPORTE J; FARDEAU M; SAMSON F; MANDEL JL
      A MUTATION IN THE MTM1 GENE INVALIDATES A PREVIOUS SUGGESTION OF NONALLELIC HETEROGENEITY IN X-LINKED MYOTUBULAR MYOPATHY

      American journal of human genetics
    84. KHERIF S; LAFUMA C; DEHAUPAS M; LACHKAR S; VERDIERESAHUQUE M; FARDEAU M; ALAMEDDINE HS
      EXPRESSION OF MATRIX METALLOPROTEASE-2 AND METALLOPROTEASE-9 DURING SKELETAL-MUSCLE REGENERATION IN NORMAL AND MDX MICE

      Molecular biology of the cell
    85. HU LJ; LAPORTE J; KRESS W; KIOSCHIS P; SIEBENHAAR R; POUSTKA A; FARDEAU M; METZENBERG A; JANSSEN EA; THOMAS N; MANDEL JL; DAHL N
      DELETIONS IN XQ28 IN 2 BOYS WITH MYOTUBULAR MYOPATHY AND ABNORMAL GENITAL DEVELOPMENT DEFINE A NEW CONTIGUOUS GENE SYNDROME IN A 430 KB REGION

      Human molecular genetics
    86. FARDEAU M; EYMARD B; MIGNARD C; TOME FMS; RICHARD I; BECKMANN JS
      CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES

      Neuromuscular disorders
    87. BECKMANN JS; RICHARD I; BROUX O; FOUGEROUSSE F; ALLAMAND V; CHIANNILKULCHAI N; LIM LE; DUCLOS F; BOURG N; BRENGUIER L; PASTURAUD P; QUETIER F; ROUDAUT C; SUNADA Y; MEYER J; DINCER P; LEFRANC G; MERLINI L; TOPALOGLU H; TOME FMS; COHEN D; JACKSON CE; CAMPBELL KP; FARDEAU M
      IDENTIFICATION OF MUSCLE-SPECIFIC CALPAIN AND BETA-SARCOGLYCAN GENES IN PROGRESSIVE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES

      Neuromuscular disorders
    88. JEANPIERRE M; CARRIE A; PICCOLO F; LETURCQ F; AZIBI K; DETOMA C; BELDJORD C; MERLINI L; VOIT T; ROMERO N; SUNADA Y; TOME FMS; FARDEAU M; CAMPBELL KP; KAPLAN JC
      FROM ADHALINOPATHIES TO ALPHA-SARCOGLYCANOPATHIES - AN OVERVIEW

      Neuromuscular disorders
    89. GOEBEL HH; FARDEAU M
      FAMILIAL DESMIN-RELATED MYOPATHIES AND CARDIOMYOPATHIES - FROM MYOPATHOLOGY TO MOLECULAR AND CLINICAL GENETICS - 36TH EUROPEAN NEUROMUSCULAR CENTER (ENMC)-SPONSORED INTERNATIONAL WORKSHOP - 20-22 OCTOBER, 1995, NAARDEN, THE NETHERLANDS

      Neuromuscular disorders
    90. VICART P; DUPRET JM; HAZAN J; LI ZL; GYAPAY G; KRISHNAMOORTHY R; WEISSENBACH J; FARDEAU M; PAULIN D
      HUMAN DESMIN GENE - CDNA SEQUENCE, REGIONAL LOCALIZATION AND EXCLUSION OF THE LOCUS IN A FAMILIAL DESMIN-RELATED MYOPATHY

      Human genetics
    91. LOUBOUTIN JP; VILLANOVA M; ULRICH G; DECLERCK LS; FARDEAU M; SAGNIEZ M
      ELEVATED LEVELS OF COMPLEMENT COMPONENTS C5 AND C9 AND DECREASED ANTITRYPSIN ACTIVITY IN THE SERUM OF PATIENTS WITH X-LINKED VACUOLATED MYOPATHY

      Muscle & nerve
    92. ROMERO NB; LOMBES A; TOUATI G; RIGAL O; FRACHON P; CHEVAL MA; GIRAUD M; POSSEKEL S; FARDEAU M; DEBAULNY HO
      MORPHOLOGICAL-STUDIES OF SKELETAL-MUSCLE IN LACTIC-ACIDOSIS

      Journal of inherited metabolic disease
    93. LAFORET P; EYMARD B; LOMBES A; DUBOC D; JEHENSON P; ROCCHICCIOLI F; CHAUSSAIN M; CHATEAU D; BRUNET P; FARDEAU M
      EXERCISE INTOLERANCE DUE TO MUSCULAR PHOS PHORYLASE-KINASE DEFICIENCY- CONTRIBUTION OF IN-VIVO METABOLISM INVESTIGATIONS

      Revue neurologique
    94. FONTAINE B; FARDEAU M
      PERIODIC PALSIES AND MYOTONIAS ARE ION-CH ANNEL DISEASES

      Revue neurologique
    95. FARDEAU M; TOME FMS; HELBLINGLECLERC A; EVANGELISTA T; OTTOLINI A; CHEVALLAY M; BAROIS A; ESTOURNET B; HARPEY JP; FAURE S; GUICHENEY P; HILLAIRE D
      CONGENITAL MUSCULAR-DYSTROPHY WITH MEROSI N DEFICIENCY - CLINICAL, HISTOPATHOLOGICAL, IMMUNOCYTOCHEMICAL AND GENETIC-STUDY

      Revue neurologique
    96. BRAIS B; TOME FMS; FARDEAU M; XIE YG; ROULEAU GA; BOUCHARD JP
      THE NATURAL-HISTORY OF OCULOPHARYNGEAL MUSCULAR-DYSTROPHY BASED ON THE STUDY OF A LARGE COHORT OF FRENCH-CANADIAN MUTATION CARRIERS

      Neurology
    97. EYMARD B; ROMERO NB; LETURCQ F; CARRIE A; PICCOLO F; COLLIN H; KAPLAN JC; TOME FMS; FARDEAU M; AZIBI K; CHAOUCH M; MERLINI L; PENISSON I; SEFIANI A; CAMPBELL KP
      ADHALIN-DEFICIENT MUSCULAR-DYSTROPHIES - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATIONS

      Neurology
    98. PLASSART E; EYMARD B; MAURS L; HAUW JJ; LYONCAEN O; FARDEAU M; FONTAINE B
      PARAMYOTONIA-CONGENITA - GENOTYPE TO PHENOTYPE CORRELATIONS IN 2 FAMILIES AND REPORT OF A NEW MUTATION IN THE SODIUM-CHANNEL GENE

      Journal of the neurological sciences
    99. VILQUIN JT; KINOSHITA I; ROY B; GOULET M; ENGVALL E; TOME F; FARDEAU M; TREMBLAY JP
      PARTIAL LAMININ ALPHA-2 CHAIN RESTORATION IN ALPHA-2 CHAIN-DEFICIENT DY DY MOUSE BY PRIMARY MUSCLE-CELL CULTURE TRANSPLANTATION/

      The Journal of cell biology
    100. JUNG D; LETURCQ F; SUNADA Y; DUCLOS F; TOME FMS; MOOMAW C; MERLINI L; AZIBI K; CHAOUCH M; SLAUGHTER C; FARDEAU M; KAPLAN JC; CAMPBELL KP
      ABSENCE OF GAMMA-SARCOGLYCAN (35-DAG) IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY LINKED TO CHROMOSOME 13Q12

      FEBS letters


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 13:20:30