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    1. Minami, N; Ikezoe, K; Kuroda, H; Nakabayashi, H; Satoyoshi, E; Nonaka, I
      Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy

      NEUROMUSCULAR DISORDERS
    2. Connolly, AM; Keeling, RM; Mehta, S; Pestronk, A; Sanes, JR
      Three mouse models of muscular dystrophy: the natural history of strength and fatigue in dystrophin-, dystrophin/utrophin-, and laminin alpha 2-deficient mice

      NEUROMUSCULAR DISORDERS
    3. Fisher, R; Tinsley, JM; Phelps, SR; Squire, SE; Townsend, ER; Martin, JE; Davies, KE
      Non-toxic ubiquitous over-expression of utrophin in the mdx mouse

      NEUROMUSCULAR DISORDERS
    4. Leclerc, N; Ribera, F; Zoll, J; Warter, JM; Poindron, P; Lampert, E; Borg, J
      Selective changes in mitochondria respiratory properties in oxidative or glycolytic muscle fibers isolated from G93AhumanSOD1 transgenic mice

      NEUROMUSCULAR DISORDERS
    5. Furling, D; Lemieux, D; Taneja, K; Puymirat, J
      Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts

      NEUROMUSCULAR DISORDERS
    6. Dorchies, OM; Laporte, J; Wagner, S; Hindelang, C; Warter, JM; Mandel, JL; Poindron, P
      Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system

      NEUROMUSCULAR DISORDERS
    7. Bonavaud, S; Agbulut, O; Nizard, R; D'honneur, G; Mouly, V; Butler-Browne, G
      A discrepancy resolved: human satellite cells are not preprogrammed to fast and slow lineages

      NEUROMUSCULAR DISORDERS
    8. Hanemann, CO; Gabreels-Festen, AAWM; De Jonghe, P
      Axon damage in CMT due to mutation in myelin protein P0

      NEUROMUSCULAR DISORDERS
    9. Kottlors, M; Jaksch, M; Ketelsen, UP; Weiner, S; Glocker, FX; Lucking, CH
      Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency

      NEUROMUSCULAR DISORDERS
    10. Kaminski, H; Andrade, FH
      Nitric oxide: biologic effects on muscle and role in muscle diseases

      NEUROMUSCULAR DISORDERS
    11. Flanigan, KM; Coffeen, CM; Sexton, L; Stauffer, D; Brunner, S; Leppert, MF
      Genetic characterization of a large, historically significant Utah kindredwith facioscapulohumeral dystrophy

      NEUROMUSCULAR DISORDERS
    12. Sambuughin, N; Nelson, TE; Jankovic, J; Xin, CL; Meissner, G; Mullakandov, M; Ji, J; Rosenberg, H; Sivakumar, K; Goldfarb, LG
      Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

      NEUROMUSCULAR DISORDERS
    13. Stojkovic, T; Maurage, CA; Moerman, A; Hurtevent, JF; Krivosic-Horber, R; Pellissier, JF; Vermersch, P
      Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility

      NEUROMUSCULAR DISORDERS
    14. Kitaguchi, T; Matsubara, S; Sato, M; Miyamoto, K; Hirai, S; Schwartz, K; Bonne, G
      A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block

      NEUROMUSCULAR DISORDERS
    15. Chae, J; Minami, N; Jin, Y; Nakagawa, M; Murayama, K; Igarashi, F; Nonaka, I
      Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

      NEUROMUSCULAR DISORDERS
    16. Spencer, MJ; Tidball, JG
      Do immune cells promote the pathology of dystrophin-deficient myopathies?

      NEUROMUSCULAR DISORDERS
    17. Piemonte, F; Casali, C; Carrozzo, R; Schagger, H; Patrono, C; Tessa, A; Tozzi, G; Cricchi, F; Di Capua, M; Siciliano, G; Amabile, GA; Morocutti, C; Bertini, E; Santorelli, FM
      Respiratory chain defects in hereditary spastic paraplegias

      NEUROMUSCULAR DISORDERS
    18. Ruggieri, V; Lubieniecki, F; Meli, F; Diaz, D; Ferragut, E; Saito, K; Brockington, M; Muntoni, F; Fukuyama, Y; Taratuto, AL
      Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings

      NEUROMUSCULAR DISORDERS
    19. Geller, TJ; Kaiboriboon, K; Fenton, GA; Hayat, GR
      Vecuronium-associated axonal motor neuropathy: a variant of critical illness polyneuropathy?

      NEUROMUSCULAR DISORDERS
    20. Dubowitz, V
      Message from the president of WMS

      NEUROMUSCULAR DISORDERS

    21. Neuromuscular disorders - Programme and abstracts for the Sixth International Congress of the World Muscle Society - Snowbird, Utah - 5-8 September 2001

      NEUROMUSCULAR DISORDERS
    22. Beenakker, EAC; van der Hoeven, JH; Fock, JM; Maurits, NM
      Reference values of maximum isometric muscle force obtained in 270 children aged 4-16 years by hand-held dynamometry

      NEUROMUSCULAR DISORDERS
    23. van der Meulen, MFG; Hoogendijk, JE; Moons, KGM; Veldman, H; Badrising, UA; Wokke, JHJ
      Rimmed vacuoles and the added value of SMI-31 staining in diagnosing sporadic inclusion body myositis

      NEUROMUSCULAR DISORDERS
    24. Cherin, P; Menard, D; Mouton, P; Viallard, JF; Le Hello, C; Authier, FJ; Gherardi, RK; Coquet, M; Herson, S; Leroi, JP
      Macrophagic myofasciitis associated with inclusion body myositis: a reportof three cases

      NEUROMUSCULAR DISORDERS
    25. Dubourg, O; Tardieu, S; Birouk, N; Gouider, R; Leger, JM; Maisonobe, T; Brice, A; Bouche, P; LeGuern, E
      The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity

      NEUROMUSCULAR DISORDERS
    26. Momose, M; Iguchi, N; Imamura, K; Usui, H; Ueda, T; Miyamoto, K; Inaba, S
      Depressed myocardial fatty acid metabolism in patients with muscular dystrophy

      NEUROMUSCULAR DISORDERS
    27. Nagashima, T; Kato, H; Maguchi, S; Chuma, T; Mano, Y; Goto, Y; Nonaka, I; Nagashima, K
      A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA

      NEUROMUSCULAR DISORDERS
    28. Campos, Y; Gamez, J; Garcia, A; Andreu, AL; Rubio, JC; Martin, MA; del Hoyo, P; Navarro, C; Cervera, C; Garesse, R; Arenas, J
      A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy

      NEUROMUSCULAR DISORDERS
    29. Spagnolo, M; Tomelleri, G; Vattemi, G; Filosto, M; Rizzuto, N; Tonin, P
      A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

      NEUROMUSCULAR DISORDERS
    30. Schneider, C; Wessig, C; Muller, CR; Brechtelsbauer, D; Grimm, T
      Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes

      NEUROMUSCULAR DISORDERS
    31. Philpot, J; Counsell, S; Bydder, G; Sewry, CA; Dubowitz, V; Muntoni, F
      Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?

      NEUROMUSCULAR DISORDERS
    32. Romero, NB; De Lonlay, P; Llense, S; Leturcq, F; Touati, G; Urtizberea, JA; Saudubray, JM; Munnich, A; Kaplan, JC; Recan, D
      Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene

      NEUROMUSCULAR DISORDERS
    33. Espinos, E; Liu, JH; Bader, CR; Bernheim, L
      Efficient non-viral DNA-mediated gene transfer to human primary myoblasts using electroporation

      NEUROMUSCULAR DISORDERS
    34. Hayashi, YK; Tezak, Z; Momoi, T; Nonaka, I; Garcia, CA; Hoffman, EP; Arahata, K
      Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy

      NEUROMUSCULAR DISORDERS
    35. Kaariainen, M; Liljamo, T; Pelto-Huikko, M; Heino, J; Jarvinen, M; Kalimo, H
      Regulation of alpha 7 integrin by mechanical stress during skeletal muscleregeneration

      NEUROMUSCULAR DISORDERS
    36. Lofberg, M; Lindholm, H; Naveri, H; Majander, A; Suomalainen, A; Paetau, A; Sovijarvi, A; Harkonen, M; Somer, H
      ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease

      NEUROMUSCULAR DISORDERS
    37. Chabrol, B; Figarella-Branger, D; Coquet, M; Mancini, J; Fontan, D; Pedespan, JM; Francannet, C; Pouget, J; Beaufrere, AM; Pellilssier, JF
      X-linked myopathy with excessive autophagy: a clinicopathological study offive new families

      NEUROMUSCULAR DISORDERS
    38. Cagliani, R; Comi, GP; Tancredi, L; Sironi, M; Fortunato, F; Giorda, R; Bardoni, A; Moggio, M; Prelle, A; Bresolin, N; Scarlato, G
      Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

      NEUROMUSCULAR DISORDERS
    39. Mohan, U; Misra, VP; Britto, J; Muntoni, F; King, RHM; Thomas, PK
      Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement

      NEUROMUSCULAR DISORDERS
    40. Meuleman, J; Pou-Serradell, A; Lofgren, A; Ceuterick, C; Martin, JJ; Timmerman, V; Van Broeckhoven, C; De Jonghe, P
      A novel 3 '-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

      NEUROMUSCULAR DISORDERS
    41. Gellera, C; Castellotti, B; Riggio, MC; Silani, V; Morandi, L; Testa, D; Casali, C; Taroni, F; Di Donato, S; Zeviani, M; Mariotti, C
      Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

      NEUROMUSCULAR DISORDERS
    42. Vohanka, S; Vytopil, M; Bednarik, J; Lukas, Z; Kadanka, Z; Schildberger, J; Ricotti, R; Bione, S; Toniolo, D
      A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy

      NEUROMUSCULAR DISORDERS
    43. Grohme, K; von Maravic, M; Gasser, T; Borasio, GD
      A case of amyotrophic lateral sclerosis with a very slow progression over 44 years

      NEUROMUSCULAR DISORDERS
    44. Kazakov, V
      Why did the heated discussion arise between Erb and Landouzy-Dejerine concerning the priority in describing the facio-scapulo-humeral muscular dystrophy and what is the main reason for this famous discussion?

      NEUROMUSCULAR DISORDERS
    45. Fletcher, S; Ly, T; Duff, RM; Howell, JM; Wilton, SD
      Cryptic splicing involving the splice site mutation in the canine model ofDuchenne muscular dystrophy

      NEUROMUSCULAR DISORDERS
    46. Ogawa, M; Kaname, T; Kimura, S; Kawasaki, I; Nomura, K; Suzuki, M; Miike, T; Yamamura, K
      The lacZ gene under the control of the 7 kb of human dystrophin muscle specific promoter is expressed in cardiac muscle but not in adult skeletal muscle in transgenic mice

      NEUROMUSCULAR DISORDERS
    47. Nakamura, A; Harrod, GV; Davies, KE
      Activation of calcineurin and stress activated protein kinase/p38-mitogen activated protein kinase in hearts of utrophin-dystrophin knockout mice

      NEUROMUSCULAR DISORDERS
    48. Lynch, GS; Cuffe, SA; Plant, DR; Gregorevic, P
      IGF-I treatment improves the functional properties of fast- and slow-twitch skeletal muscles from dystrophic mice

      NEUROMUSCULAR DISORDERS
    49. Tkatchenko, AV; Pietu, G; Cros, N; Gannoun-Zaki, L; Auffray, C; Leger, JJ; Dechesne, CA
      Identification of altered gene expression in skeletal muscles from Duchenne muscular dystrophy patients

      NEUROMUSCULAR DISORDERS
    50. Piercy, RJ; Hinchcliff, KW; Morley, PS; DiSilvestro, RA; Reinhart, GA; Nelson, SL; Schmidt, KE; Craig, AM
      Vitamin E and exertional rhabdomyolysis during endurance sled dog racing

      NEUROMUSCULAR DISORDERS
    51. Pollitt, C; Anderson, LVB; Pogue, R; Davison, K; Pyle, A; Bushby, KMD
      The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

      NEUROMUSCULAR DISORDERS
    52. Mercuri, E; Rutherford, M; De Vile, C; Counsell, S; Sewry, C; Brown, S; Bydder, G; Dubowitz, V; Muntoni, F
      Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy

      NEUROMUSCULAR DISORDERS
    53. Toyono, M; Nakano, K; Kiuchi, M; Imai, K; Suzuki, H; Shishikura, K; Osawa, M; Shiratori, K; Goto, Y; Nonaka, I; Sugie, H
      A case of MERRF associated with chronic pancreatitis

      NEUROMUSCULAR DISORDERS
    54. Rowin, J; Meriggioli, MN; Cochran, EJ
      Monomelic amyotrophy with late progression

      NEUROMUSCULAR DISORDERS
    55. Fajkusova, L; Lukas, Z; Tvrdikova, M; Kuhrova, V; Hajek, J; Fajkus, J
      Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

      NEUROMUSCULAR DISORDERS
    56. Ueyama, H; Kumamoto, T; Nagao, S; Masuda, T; Horinouchi, H; Fujimoto, S; Tsuda, T
      A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy

      NEUROMUSCULAR DISORDERS
    57. Sewry, CA; Brown, SC; Pelin, K; Jungbluth, H; Wallgren-Pettersson, C; Labeit, S; Manzur, A; Muntoni, F
      Abnormalities in the expression of nebulin in chromosome-2 linked nemalinemyopathy

      NEUROMUSCULAR DISORDERS
    58. Gurgel-Giannetti, J; Reed, U; Bang, ML; Pelin, K; Donner, K; Marie, SK; Carvalho, M; Fireman, MAT; Zanoteli, E; Oliveira, ASB; Zatz, M; Wallgren-Pettersson, C; Labeit, S; Vainzof, M
      Nebulin expression in patients with nemaline myopathy

      NEUROMUSCULAR DISORDERS
    59. Reijneveld, JC; Notermans, NC; Linssen, WHJP; Bar, PR; Wokke, JHJ
      Hyper-CK-aemia revisited

      NEUROMUSCULAR DISORDERS
    60. Hyde, SA; Steffensen, BF; Floytrup, I; Glent, S; Kroksmark, AK; Salling, B; Werlauff, U; Erlandsen, M
      Longitudinal data analysis: an application to construction of a natural history profile of Duchenne muscular dystrophy

      NEUROMUSCULAR DISORDERS
    61. Matecki, S; Topin, N; Hayot, M; Rivier, F; Echenne, B; Prefaut, C; Ramonatxo, M
      A standardized method for the evaluation of respiratory muscle endurance in patients with Duchenne muscular dystrophy

      NEUROMUSCULAR DISORDERS
    62. Politano, L; Nigro, V; Passamano, L; Petretta, V; Comi, LI; Papparella, S; Nigro, G; Rambaldi, PF; Raia, P; Pini, A; Mora, M; Giugliano, MAM; Esposito, MG; Nigro, G
      Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

      NEUROMUSCULAR DISORDERS
    63. Grain, L; Cortina-Borja, M; Forfar, C; Hilton-Jones, D; Hopkin, J; Burch, M
      Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenneand Becker muscular dystrophies and controls

      NEUROMUSCULAR DISORDERS
    64. Lynch, GS; Hinkle, RT; Faulkner, JA
      Force and power output of diaphragm muscle strips from mdx and control mice after clenbuterol treatment

      NEUROMUSCULAR DISORDERS
    65. Porter, JD; Merriam, AP; Hack, AA; Andrade, FH; McNally, EM
      Extraocular muscle is spared despite the absence of an intact sarcoglycan complex in gamma- or delta-sarcoglycan-deficient mice

      NEUROMUSCULAR DISORDERS
    66. Evoli, A; Batocchi, AP; Minisci, C; Di Schino, C; Tonali, P
      Therapeutic options in ocular myasthenia gravis

      NEUROMUSCULAR DISORDERS
    67. Sugita, H; Ozawa, E; Nonaka, I
      Kiichi Arahata (1946-2000) - Obituary

      NEUROMUSCULAR DISORDERS
    68. Engel, A
      Kiichi Arahata (1946-2000) - Obituary

      NEUROMUSCULAR DISORDERS
    69. Hoffman, E
      Kiichi Arahata (1946-2000) - Obituary

      NEUROMUSCULAR DISORDERS
    70. Fardeau, M; Tome, F
      Kiichi Arahata (1946-2000) - Obituary

      NEUROMUSCULAR DISORDERS
    71. Dubowitz, V
      Kiichi Arahata (1946-2000) - Obituary

      NEUROMUSCULAR DISORDERS
    72. Goebel, HH; Warlo, IAP
      Surplus protein myopathies

      NEUROMUSCULAR DISORDERS
    73. Nishino, I; Spinazzola, A; Hirano, M
      MNGIE: from nuclear DNA to mitochondrial DNA

      NEUROMUSCULAR DISORDERS
    74. Voit, T; Kutz, P; Leube, B; Neuen-Jacob, E; Schroder, JM; Cavallotti, D; Vaccario, ML; Schaper, J; Broich, P; Cohn, R; Baethmann, M; Gohlich-Ratmann, G; Scoppetta, C; Herrmann, R
      Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

      NEUROMUSCULAR DISORDERS
    75. Mahjneh, I; Marconi, G; Bushby, K; Anderson, LVB; Tolvanen-Mahjneh, H; Somer, H
      Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations

      NEUROMUSCULAR DISORDERS
    76. Barhoumi, C; Amouri, R; Ben Hamida, C; Ben Hamida, M; Machghoul, S; Gueddiche, M; Hentati, F
      Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3

      NEUROMUSCULAR DISORDERS
    77. Jungbluth, H; Sewry, CA; Brown, SC; Nowak, KJ; Laing, NG; Wallgren-Pettersson, C; Pelin, K; Manzur, AY; Mercuri, E; Dubowitz, V; Muntoni, F
      Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

      NEUROMUSCULAR DISORDERS
    78. Olby, NJ; Sharp, NJH; Anderson, LVB; Kunkel, LM; Bonnemann, CG
      Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers

      NEUROMUSCULAR DISORDERS
    79. Wishnia, A; Alameddine, H; de Gery, ST; Leroy-Willig, A
      Use of magnetic resonance imaging for noninvasive characterization and follow-up of an experimental injury to normal mouse muscles

      NEUROMUSCULAR DISORDERS
    80. Seiler, G; Welle, M; Busato, A; Lin, S; Gaschen, FP
      Mast cell proliferation and alterations in bFGF amount and localization are involved in the response of muscle to dystrophin deficiency in hypertrophic feline dystrophy

      NEUROMUSCULAR DISORDERS
    81. Vandebrouck, C; Duport, G; Cognard, C; Raymond, G
      Cationic channels in normal and dystrophic human myotubes

      NEUROMUSCULAR DISORDERS
    82. Pogue, R; Anderson, LVB; Pyle, A; Sewry, C; Pollitt, C; Johnson, MA; Davison, K; Moss, JA; Mercuri, E; Muntoni, F; Bushby, KMD
      Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

      NEUROMUSCULAR DISORDERS
    83. Vergani, L; Prescott, AR; Holt, IJ
      Rhabdomyosarcoma rho(0) cells: isolation and characterization of mitochondrial DNA depleted cell line with 'muscle-like' properties (vol 10, pg 454, 2000)

      NEUROMUSCULAR DISORDERS
    84. Villanova, M; Mercuri, E; Bertini, E; Sabatelli, P; Morandi, L; Mora, M; Sewry, C; Brockington, M; Brown, SC; Ferreiro, A; Maraldi, NM; Toda, T; Guicheney, P; Merlini, L; Muntoni, F
      Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome

      NEUROMUSCULAR DISORDERS
    85. Talim, B; Ferreiro, A; Cormand, B; Vignier, N; Oto, A; Gogus, S; Cila, A; Lehesjoki, AE; Pihko, H; Guicheney, P; Topaloglu, H
      Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci

      NEUROMUSCULAR DISORDERS
    86. Anderson, LVB; Harrison, RM; Pogue, R; Vafiadaki, E; Pollitt, C; Davison, K; Moss, JA; Keers, S; Pyle, A; Shaw, PJ; Mahjneh, I; Argov, Z; Greenberg, CR; Wrogemann, K; Bertorini, T; Goebel, HH; Beckmann, JS; Bashir, R; Bushby, KMD
      Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

      NEUROMUSCULAR DISORDERS
    87. Calvo, F; Teijeira, S; Fernandez, JM; Teijeiro, A; Fernandez-Hojas, R; Fernandez-Lopez, XA; Martin, E; Navarro, C
      Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients

      NEUROMUSCULAR DISORDERS
    88. Di Blasi, C; Morandi, L; di Barletta, MR; Bione, S; Bernasconi, P; Cerletti, M; Bono, R; Blasevich, F; Toniolo, D; Mora, M
      Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy

      NEUROMUSCULAR DISORDERS
    89. Kerst, B; Mennerich, D; Schuelke, M; Stoltenburg-Didinger, G; von Moers, A; Gossrau, R; van Landeghem, FKH; Speer, A; Braun, T; Hubner, C
      Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Backer muscular dystrophy

      NEUROMUSCULAR DISORDERS
    90. Colomer, J; Iturriaga, C; Kalaydjieva, L; Angelicheva, D; King, RHM; Thomas, PK
      Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies

      NEUROMUSCULAR DISORDERS
    91. Chandler, D; Angelicheva, D; Heather, L; Gooding, R; Gresham, D; Yanakiev, P; de Jonge, R; Baas, F; Dye, D; Karagyozov, L; Savov, A; Blechschmidt, K; Keats, B; Thomas, PK; King, RHM; Starr, A; Nikolova, A; Colomer, J; Ishpekova, B; Tournev, I; Urtizberea, JA; Merlini, L; Butinar, D; Chabrol, B; Voit, T; Baethmann, M; Nedkova, V; Corches, A; Kalaydjieva, L
      Hereditary motor and sensory neuropathy Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

      NEUROMUSCULAR DISORDERS
    92. Zemmouri, R; Azzedine, H; Assami, S; Kitouni, N; Vallat, JM; Maisonobe, T; Hamadouche, T; Kessaci, M; Mansouri, B; Le Guern, E; Grid, D; Tazir, M
      Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy

      NEUROMUSCULAR DISORDERS
    93. Tsujino, S; Huei, M; Kanazawa, N; Sugie, H; Goto, Y; Kawai, M; Nonaka, I; Hirschhorn, R; Sakuragawa, N
      Frequent mutations in Japanese patients with acid maltase deficiency

      NEUROMUSCULAR DISORDERS
    94. Kok, CC; Boyt, A; Gaudieri, S; Martins, R; Askanas, V; Dalakas, M; Kiers, L; Mastaglia, F; Garlepp, M
      Mitochondrial DNA variants in inclusion body myositis

      NEUROMUSCULAR DISORDERS
    95. Spencer, MJ; Marino, MW; Winckler, WM
      Altered pathological progression of diaphragm and quadriceps muscle in TNF-deficient, dystrophin-deficient mice

      NEUROMUSCULAR DISORDERS
    96. Ausems, MGEM; ten Berg, K; Beemer, FA; Wokke, JHJ
      Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families

      NEUROMUSCULAR DISORDERS
    97. Abe, M; Higuchi, I; Morisaki, H; Morisaki, T; Osame, M
      Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient

      NEUROMUSCULAR DISORDERS
    98. Kress, W; Mueller-Myhsok, B; Ricker, K; Schneider, C; Koch, MC; Toyka, KV; Mueller, CR; Grimm, T
      Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)

      NEUROMUSCULAR DISORDERS
    99. Schneider, C; Grimm, T; Kress, W; Sommer, C; Muller, CR
      Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM)

      NEUROMUSCULAR DISORDERS
    100. Poulton, J; Marchington, DR
      Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases

      NEUROMUSCULAR DISORDERS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/10/20 alle ore 23:29:01