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La ricerca find articoli where soggetti phrase all words 'GAMMA-SARCOGLYCAN' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 68 riferimenti
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    1. Gordon, ES; Hoffman, EP
      The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more

      CURRENT OPINION IN NEUROLOGY
    2. Wakayama, Y; Inoue, M; Kojima, H; Murahashi, M; Shibuya, S; Oniki, H
      Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: Triple immunogold labeling electron microscopy

      MICROSCOPY RESEARCH AND TECHNIQUE
    3. Dos Santos, MR; Vieira, EM; Lima, MR
      Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy

      GENETIC COUNSELING
    4. 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
    5. Nakamura, TY; Iwata, Y; Sampaolesi, M; Hanada, H; Saito, N; Artman, M; Coetzee, WA; Shigekawa, M
      Stretch-activated cation channels in skeletal muscle myotubes from sarcoglycan-deficient hamsters

      AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
    6. Sampaolesi, M; Yoshida, T; Iwata, Y; Hanada, H; Shigekawa, M
      Stretch-induced cell damage in sarcoglycan-deficient myotubes

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    7. Moreira, ES; Wiltshire, TJ; Faulkner, G; Nilforoushan, A; Vainzof, M; Suzuki, OT; Valle, G; Reeves, R; Zatz, M; Passos-Bueno, MR; Jenne, DE
      Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

      NATURE GENETICS
    8. Hack, AA; Groh, ME; McNally, EM
      Sarcoglycans in muscular dystrophy

      MICROSCOPY RESEARCH AND TECHNIQUE
    9. Allamand, V; Donahue, KM; Straub, V; Davisson, RL; Davidson, BL; Campbell, KP
      Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice

      GENE THERAPY
    10. Imamura, M; Araishi, K; Noguchi, S; Ozawa, E
      A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system

      HUMAN MOLECULAR GENETICS
    11. 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
    12. Nowak, KJ; Walsh, P; Jacob, RL; Johnsen, RD; Peverall, J; McNally, EM; Wilton, SD; Kakulas, BA; Laing, NG
      Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion

      NEUROMUSCULAR DISORDERS
    13. Ginjaar, HB; van der Kooi, AJ; Ceelie, H; Kneppers, ALJ; van Meegen, M; Barth, PG; Busch, HFM; Wokke, JHJ; Anderson, LVB; Bonnemann, CG; Jeanpierre, M; Bolhuis, PA; Moorman, AFM; de Visser, M; Bakker, E; Von Ommen, GJB
      Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdlemuscular dystrophy

      JOURNAL OF NEUROLOGY
    14. Vainzof, M; Moreira, ES; Canovas, M; Anderson, LVB; Pavanello, RCM; Passos-Bueno, MR; Zatz, M
      Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family

      MUSCLE & NERVE
    15. Takano, A; Bonnemann, CG; Honda, H; Sakai, M; Feener, CA; Kunkel, LM; Sobue, G
      Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations

      MUSCLE & NERVE
    16. Leschziner, A; Moukhles, H; Lindenbaum, M; Gee, SH; Butterworth, J; Campbell, KP; Carbonetto, S
      Neural regulation of alpha-dystroglycan biosynthesis and glycosylation in skeletal muscle

      JOURNAL OF NEUROCHEMISTRY
    17. Dincer, P; Akcoren, Z; Demir, E; Richard, I; Sancak, O; Kale, G; Ozme, S; Karaduman, A; Tan, E; Urtizberea, JA; Beckmann, JS; Topaloglu, H
      A cross section of autosomal recessive limb-girdle muscular dystrophies in38 families

      JOURNAL OF MEDICAL GENETICS
    18. Hack, AA; Lam, MYJ; Cordier, L; Shoturma, DI; Ly, CT; Hadhazy, MA; Hadhazy, MR; Sweeney, HL; McNally, EM
      Differential requirement for individual sarcoglycans and dystrophin in theassembly and function of the dystrophin-glycoprotein complex

      JOURNAL OF CELL SCIENCE
    19. Chen, YW; Zhao, P; Borup, R; Hoffman, EP
      Expression profiling in the muscular dystrophies: Identification of novel aspects of molecular pathophysiology

      JOURNAL OF CELL BIOLOGY
    20. Crawford, GE; Faulkner, JA; Crosbie, RH; Campbell, KP; Froehner, SC; Chamberlain, JS
      Assembly of the dystrophin-associated protein complex does not require thedystrophin COOH-terminal domain

      JOURNAL OF CELL BIOLOGY
    21. Thompson, TG; Chan, YM; Hack, AA; Brosius, M; Rajala, M; Lidov, HGW; McNally, EM; Watkins, S; Kunkel, LM
      Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

      JOURNAL OF CELL BIOLOGY
    22. Piluso, G; Mirabella, M; Ricci, E; Belsito, A; Abbondanza, C; Servidei, S; Puca, AA; Tonali, P; Puca, GA; Nigro, V
      gamma 1-and gamma 2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells

      JOURNAL OF BIOLOGICAL CHEMISTRY
    23. Biral, D; Jakubiec-Puka, A; Ciechomska, I; Sandri, M; Rossini, K; Carraro, U; Betto, R
      Loss of dystrophin and some dystrophin-associated proteins with concomitant signs of apoptosis in rat leg muscle overworked in extension

      ACTA NEUROPATHOLOGICA
    24. Araishi, K; Sasaoka, T; Imamura, M; Noguchi, S; Hama, H; Wakabayashi, E; Yoshida, M; Hori, T; Ozawa, E
      Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice

      HUMAN MOLECULAR GENETICS
    25. Bushby, KMD
      The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

      HUMAN MOLECULAR GENETICS
    26. 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
    27. Higuchi, I; Kawai, H; Kawajiri, M; Fukunaga, H; Horikiri, T; Niiyama, T; Nakagawa, M; Arimura, K; Osame, M
      Statistically significant differences in the number of CD24 positive muscle fibers and satellite cells between sarcoglycanopathy and age-matched Becker muscular dystrophy patients

      INTERNAL MEDICINE
    28. Engert, JC; Dore, C; Mercier, J; Ge, B; Betard, C; Rioux, JD; Owen, C; Berube, P; Devon, K; Birren, B; Melancon, SB; Morgan, K; Hudson, TJ; Richter, A
      Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): High-resolution physical and transcript map of the candidate region in chromosomeregion 13q11

      GENOMICS
    29. Betto, R; Biral, D; Sandona, D
      Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans

      ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
    30. Eger, K; Bretschneider, F; Zierz, S; Lehmann-Horn, F
      Muscle diseases - New developments

      AKTUELLE NEUROLOGIE
    31. Passos-Bueno, MR; Vainzof, M; Moreira, ES; Zatz, M
      Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G

      AMERICAN JOURNAL OF MEDICAL GENETICS
    32. Melacini, P; Fanin, M; Duggan, DJ; Freda, MP; Berardinelli, A; Danieli, GA; Barchitta, A; Hoffman, EP; Dalla Volta, S; Angelini, C
      Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

      MUSCLE & NERVE
    33. Matsumura, K; Saito, F; Yamada, H; Hase, A; Sunada, Y; Shimizu, T
      Sarcoglycan complex: A muscular supporter of dystroglycan-dystrophin interplay?

      CELLULAR AND MOLECULAR BIOLOGY
    34. Coral-Vazquez, R; Cohn, RD; Moore, SA; Hill, JA; Weiss, RM; Davisson, RL; Straub, V; Barresi, R; Bansal, D; Hrstka, RF; Williamson, R; Campbell, KP
      Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle:A novel mechanism for cardiomyopathy and muscular dystrophy

      CELL
    35. Hack, AA; Cordier, L; Shoturma, DI; Lam, MY; Sweeney, HL; McNally, EM
      Muscle degeneration without mechanical injury in sarcoglycan deficiency

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    36. Minami, N; Nishino, I; Kobayashi, O; Ikezoe, K; Goto, Y; Nonaka, I
      Mutations of calpain 3 gene in patients with sporadic limb-girdle musculardystrophy in Japan

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    37. Hoffman, EP
      Counting muscular dystrophies in the post-molecular census

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    38. Vainzof, M; Passos-Bueno, MR; Pavanello, RCM; Marie, SK; Oliveira, ASB; Zatz, M
      Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    39. Leal, GF; Da-Silva, EO
      Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred

      JOURNAL OF MEDICAL GENETICS
    40. Montanaro, F; Lindenbaum, M; Carbonetto, S
      alpha-dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability

      JOURNAL OF CELL BIOLOGY
    41. Crosbie, RH; Lebakken, CS; Holt, KH; Venzke, DP; Straub, V; Lee, JC; Grady, RM; Chamberlain, JS; Sanes, JR; Campbell, KP
      Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex

      JOURNAL OF CELL BIOLOGY
    42. Liu, LA; Engvall, E
      Sarcoglycan isoforms in skeletal muscle

      JOURNAL OF BIOLOGICAL CHEMISTRY
    43. Bushby, KMD
      Making sense of the limb-girdle muscular dystrophies

      BRAIN
    44. Hoffman, EP
      Muscular dystrophy - Identification and use of genes for diagnostics and therapeutics

      ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
    45. Wakayama, Y; Inoue, M; Kojima, H; Murahashi, M; Shibuya, S; Jimi, T; Hara, H; Oniki, H
      Ultrastructural localization of alpha-, beta- and gamma-sarcoglycan and their mutual relation, and their relation to dystrophin, beta-dystroglycan and beta-spectrin in normal skeletal myofiber

      ACTA NEUROPATHOLOGICA
    46. LIM LE; CAMPBELL KP
      THE SARCOGLYCAN COMPLEX IN LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Current opinion in neurology
    47. HOLT KH; LIM LE; STRAUB V; VENZKE DP; DUCLOS F; ANDERSON RD; DAVIDSON BL; CAMPBELL KP
      FUNCTIONAL RESCUE OF THE SARCOGLYCAN COMPLEX IN THE BIO-14.6 HAMSTER USING DELTA-SARCOGLYCAN GENE-TRANSFER

      MOLECULAR CELL
    48. BASHIR R; BRITTON S; STRACHAN T; KEERS S; VAFIADAKI E; LAKO M; RICHARD I; MARCHAND S; BOURG N; ARGOV Z; SADEH M; MAHJNEH I; MARCONI G; PASSOSBUENO MR; MOREIRA ED; ZATZ M; BECKMANN JS; BUSHBY K
      A GENE-RELATED TO CAENORHABDITIS-ELEGANS SPERMATOGENESIS FACTOR FER-1IS MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2B

      Nature genetics
    49. VANDERKOOI AJ; DEVISSER M; VANMEEGEN M; GINJAAR HB; VANESSEN AJ; JENNEKENS FGI; JONGEN PJH; LESCHOT NJ; BOLHUIS PA
      A NOVEL GAMMA-SARCOGLYCAN MUTATION CAUSING CHILDHOOD-ONSET, SLOWLY PROGRESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    50. BONNEMANN CG; WONG J; BENHAMIDA C; BENHAMIDA M; HENTATI F; KUNKEL LM
      LGMD 2E IN TUNISIA IS CAUSED BY A HOMOZYGOUS MISSENSE MUTATION IN BETA-SARCOGLYCAN EXON-3

      Neuromuscular disorders
    51. DUCLOS F; BROUX O; BOURG N; STRAUB V; FELDMAN GL; SUNADA Y; LIM LE; PICCOLO F; CUTSHALL S; GARY F; QUETIER F; KAPLAN JC; JACKSON CE; BECKMANN JS; CAMPBELL KP
      BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE

      Neuromuscular disorders
    52. Dincer, P; Piccolo, F; Leturcq, F; Kaplan, JC; Jeanpierre, M; Topaloglu, H
      Prenatal diagnosis of limb-girdle muscular dystrophy Type 2C

      PRENATAL DIAGNOSIS
    53. ANGELINI C; FANIN M; MENEGAZZO E; FREDA MP; DUGGAN DJ; HOFFMAN EP
      HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT

      Muscle & nerve
    54. OZAWA E; NOGUCHI S; MIZUNO Y; HAGIWARA Y; YOSHIDA M
      INVITED REVIEW - FROM DYSTROPHINOPATHY TO SARCOGLYCANOPATHY - EVOLUTION OF A CONCEPT OF MUSCULAR-DYSTROPHY

      Muscle & nerve
    55. MOREIRA ES; VAINZOF M; MARIE SK; NIGRO V; ZATZ M; PASSOSBUENO MR
      A FIRST MISSENSE MUTATION IN THE DELTA-SARCOGLYCAN GENE ASSOCIATED WITH A SEVERE PHENOTYPE AND FREQUENCY OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2F (LGMD2F) IN BRAZILIAN SARCOGLYCANOPATHIES

      Journal of Medical Genetics
    56. Chan, YM; Bonnemann, CG; Lidov, HGW; Kunkel, LM
      Molecular organization of sarcoglycan complex in mouse myotubes in culture

      JOURNAL OF CELL BIOLOGY
    57. Holt, KH; Campbell, KP
      Assembly of the sarcoglycan complex - Insights for muscular dystrophy

      JOURNAL OF BIOLOGICAL CHEMISTRY
    58. STRAUB V; DUCLOS F; VENZKE DP; LEE JC; CUTSHALL S; LEVEILLE CJ; CAMPBELL KP
      MOLECULAR PATHOGENESIS OF MUSCLE DEGENERATION IN THE DELTA-SARCOGLYCAN-DEFICIENT HAMSTER

      The American journal of pathology
    59. 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
    60. PRELLE A; COMI GP; TANCREDI L; RIGOLETTO C; CISCATO P; FORTUNATO F; NESTI S; SCIACCO M; ROBOTTI M; BAZZI P; FELISARI G; MOGGIO M; SCARLATO G
      SARCOGLYCAN DEFICIENCY IN A LARGE ITALIAN POPULATION OF MYOPATHIC PATIENTS

      Acta Neuropathologica
    61. HIGUCHI I; KAWAI H; UMAKI Y; KAWAJIRI M; ADACHI K; FUKUNAGA H; NAKAGAWA M; ARIMURA K; OSAME M
      DIFFERENT MANNERS OF SARCOGLYCAN EXPRESSION IN GENETICALLY PROVEN ALPHA-SARCOGLYCAN DEFICIENCY AND GAMMA-SARCOGLYCAN DEFICIENCY

      Acta Neuropathologica
    62. LODI R; MUNTONI F; TAYLOR J; KUMAR S; SEWRY CA; BLAMIRE A; STYLES P; TAYLOR DJ
      CORRELATIVE MR-IMAGING AND P-31-MR SPECTROSCOPY STUDY IN SARCOGLYCAN DEFICIENT LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    63. SCHMITZ F; DRENCKHAHN D
      DYSTROPHIN IN THE RETINA

      Progress in neurobiology
    64. FANIN M; DUGGAN DJ; MOSTACCIUOLO ML; MARTINELLO F; FREDA MP; SORARU G; TREVISAN CP; HOFFMAN EP
      GENETIC EPIDEMIOLOGY OF MUSCULAR-DYSTROPHIES RESULTING FROM SARCOGLYCAN GENE-MUTATIONS

      Journal of Medical Genetics
    65. ETTINGER AJ; FENG GP; SANES JR
      EPSILON-SARCOGLYCAN, A BROADLY EXPRESSED HOMOLOG OF THE GENE MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY 2D

      The Journal of biological chemistry
    66. DUGGAN DJ; HOFFMAN EP
      AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY AND MUTATIONS OF THE SARCOGLYCAN COMPLEX

      Neuromuscular disorders
    67. BENHAMIDA M; BENHAMIDA C; ZOUARI M; BELAL S; HENTATI F
      LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C - CLINICAL ASPECTS

      Neuromuscular disorders
    68. 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


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Documento generato il 26/01/21 alle ore 14:46:26