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La ricerca find articoli where soggetti phrase all words 'LIMB-GIRDLE MUSCULAR DYSTROPHY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 84 riferimenti
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    1. 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
    2. 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
    3. Pollitt, C; Anderson, LVB; Pogue, R; Davison, K; Pyle, A; Bushby, KMD
      The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

      NEUROMUSCULAR DISORDERS
    4. 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
    5. 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
    6. Mologni, L; Salmikangas, P; Fougerousse, F; Beckmann, JS; Carpen, O
      Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A

      MECHANISMS OF DEVELOPMENT
    7. de Paula, F; Vainzof, M; Bernardino, ALF; McNally, E; Kunkel, LM; Zatz, M
      Mutations in the caveolin-3 gene: When are they pathogenic?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Vorgerd, M; Gencik, M; Mortier, J; Epplen, JT; Malin, JP; Mortier, W
      Isolated loss of gamma-sarcoglycan: Diagnostic implications in autosomal recessive limb-girdle muscular dystrophies

      MUSCLE & NERVE
    9. Ansved, T
      Muscle training in muscular dystrophies

      ACTA PHYSIOLOGICA SCANDINAVICA
    10. Vlak, M; van der Kooi, E; Angelini, C
      Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy

      NEUROLOGICAL SCIENCES
    11. Cordier, L; Hack, AA; Scott, MO; Barton-Davis, ER; Gao, GP; Wilson, JM; McNally, EM; Sweeney, HL
      Rescue of skeletal muscles of gamma-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer

      MOLECULAR THERAPY
    12. Kimonis, VE; Kovach, MJ; Waggoner, B; Leal, S; Salam, A; Rimer, L; Davis, K; Khardori, R; Gelber, D
      Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

      GENETICS IN MEDICINE
    13. Genschel, J; Schmidt, HHJ
      Mutations in the LMNA gene encoding lamin A/C

      HUMAN MUTATION
    14. Fanin, M; Hoffman, EP; Angelini, C; Pegoraro, E
      Private beta- and gamma-sarcoglycan gene mutations: Evidence of a founder effect in northern Italy

      HUMAN MUTATION
    15. 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
    16. Driss, A; Amouri, R; Ben Hamida, C; Souilem, S; Gouider-Khouja, N; Ben Hamida, M; Hentati, F
      A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3

      NEUROMUSCULAR DISORDERS
    17. Dincer, P; Bonnemann, CG; Aker, OE; Akcoren, Z; Nigro, V; Kunkel, LM; Topaloglu, H
      A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F

      NEUROMUSCULAR DISORDERS
    18. Fougerousse, F; Anderson, LVB; Delezoide, AL; Suel, L; Durand, M; Beckmann, JS
      Calpain3 expression during human cardiogenesis

      NEUROMUSCULAR DISORDERS
    19. 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
    20. McNally, EM; Ly, CT; Rosenmann, H; Rosenbaum, SM; Jiang, W; Anderson, LVB; Soffer, D; Argov, Z
      Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. 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
    22. Merlini, L; Kaplan, JC; Navarro, C; Barois, A; Bonneau, D; Brasa, J; Echenne, B; Gallano, P; Jarre, L; Jeanpierre, M; Kalaydjieva, L; Leturcq, F; Levi-Gomes, A; Toutain, A; Tournev, I; Urtizberea, A; Vallat, JM; Voit, T; Warter, JM
      Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

      NEUROLOGY
    23. Ayoubi, JM; Meddoun, M; Jouk, PS; Favier, M; Pons, JC
      Vaginal delivery in a woman with limb-girdle muscular dystrophy - A case report

      JOURNAL OF REPRODUCTIVE MEDICINE
    24. 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
    25. Barresi, R; Di Blasi, C; Negri, T; Brugnoni, R; Vitali, A; Felisari, G; Salandi, A; Daniel, S; Cornelio, F; Morandi, L; Mora, M
      Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations

      JOURNAL OF MEDICAL GENETICS
    26. van der Ven, PFM; Wiesner, S; Salmikangas, P; Auerbach, D; Himmel, M; Kempa, S; Hayess, K; Pacholsky, D; Taivainen, A; Schroder, R; Carpen, O; Furst, DO
      Indications for a novel muscular dystrophy pathway: gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin

      JOURNAL OF CELL BIOLOGY
    27. Greener, MJ; Roberts, RG
      Conservation of components of the dystrophin complex in Drosophila

      FEBS LETTERS
    28. Todorova, A; Ashikov, A; Beltcheva, O; Tournev, I; Kremensky, I
      C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population

      HUMAN MUTATION
    29. Li, J; Dressman, D; Tsao, YP; Sakamoto, A; Hoffman, EP; Xiao, X
      rAAV vector-mediated sarcoglycan gene transfer in a hamster model for limbgirdle muscular dystrophy

      GENE THERAPY
    30. Miladi, N; Bourguignon, JP; Hentati, F
      Cognitive and psychological profile of a Tunisian population of limb girdle muscular dystrophy

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

      ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
    32. Matsumura, T; Aoki, M; Nagano, A; Hayashi, YK; Asada, C; Ogawa, M; Yamanaka, G; Goto, K; Nakagawa, M; Oka, H; Sahashi, K; Kouhara, N; Saito, Y; Brown, RH; Nonaka, I; Arahata, K
      Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

      PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES
    33. McDaniel, JD; Ulmer, JL; Prost, RW; Franczak, MB; Jaradeh, S; Hamilton, CA; Mark, LP
      Magnetization transfer imaging of skeletal muscle in autosomal recessive limb girdle muscular dystrophy

      JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY
    34. Lin, S; Liechti-Gallati, S; Burgunder, JM
      New advances in the understanding of muscular dystrophies: an up-to-date diagnostic plan

      SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT
    35. 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
    36. Tanaka, K; Yamada, T; Kikuchi, H; Mitsunaga, Y; Furuya, H; Kira, J
      Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture

      ACTA NEUROLOGICA SCANDINAVICA
    37. VANDERKOOI AJ; DEVOOGT WG; BARTH PG; BUSCH HFM; JENNEKENS FGI; JONGEN PJH; DEVISSER M
      THE HEART IN LIMB-GIRDLE MUSCULAR-DYSTROPHY

      HEART
    38. NAOM I; DALESSANDRO M; SEWRY CA; PHILPOT J; MANZUR AY; DUBOWITZ V; MUNTONI F
      LAMININ ALPHA-2-CHAIN GENE-MUTATIONS IN 2 SIBLINGS PRESENTING WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    39. 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
    40. 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
    41. MUNTONI F; LICHTAROWICZKRYNSKA EJ; SEWRY CA; MANILAL S; RECAN D; LLENSE S; TAYLOR J; MORRIS GE; DUBOWITZ V
      EARLY PRESENTATION OF X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY RESEMBLING LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    42. 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
    43. DILLMANN U; HEIDE G; KRAMER G; HOPF HC; SCHIMRIGK K
      EVOKED ISOMETRIC MUSCLE CONTRACTIONS IN MYOPATHIES - ANALYSIS OF PATHOPHYSIOLOGICAL PROPERTIES BY DIFFERENT STIMULUS PATTERNS

      ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY
    44. Dincer, P; Piccolo, F; Leturcq, F; Kaplan, JC; Jeanpierre, M; Topaloglu, H
      Prenatal diagnosis of limb-girdle muscular dystrophy Type 2C

      PRENATAL DIAGNOSIS
    45. TOKITO MK; HOLZBAUR ELF
      THE GENOMIC STRUCTURE OF DCTN1, A CANDIDATE GENE FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2B)

      Biochimica et biophysica acta, N. Gene structure and expression
    46. PENISSONBESNIER I; RICHARD I; DUBAS F; BECKMANN JS; FARDEAU M
      PSEUDOMETABOLIC EXPRESSION AND PHENOTYPIC VARIABILITY OF CALPAIN DEFICIENCY IN 2 SIBLINGS

      Muscle & nerve
    47. 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
    48. KAWAI H; AKAIKE M; KUNISHIGE M; INUI T; ADACHI K; KIMURA C; KAWAJIRI M; NISHIDA Y; ENDO I; KASHIWAGI S; NISHINO H; FUJIWARA T; OKUNO S; ROUDAUT C; RICHARD I; BECKMANN JS; MIYOSHI K; MATSUMOTO T
      CLINICAL, PATHOLOGICAL, AND GENETIC FEATURES OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A WITH NEW CALPAIN-3 GENE-MUTATIONS IN 7 PATIENTS FROM3 JAPANESE FAMILIES

      Muscle & nerve
    49. CONNOLLY AM; PESTRONK A; MEHTA S; ALLOZI M
      PRIMARY ALPHA-SARCOGLYCAN DEFICIENCY RESPONSIVE TO IMMUNOSUPPRESSION OVER 3 YEARS

      Muscle & nerve
    50. SPEER MC; GILCHRIST JM; STAJICH JM; GASKELL PC; WESTBROOK CA; HORRIGAN SK; BARTOLONI L; YAMAOKA LH; SCOTT WK; PERICAKVANCE MA
      EVIDENCE FOR ANTICIPATION IN AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Journal of Medical Genetics
    51. URTASUN M; SAENZ A; ROUDAUT C; POZA JJ; URTIZBEREA JA; COBO AM; RICHARD I; BRAGADO FG; LETURCQ F; KAPLAN JC; MASSO JFM; BECKMANN JS; DEMUNAIN AL
      LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)

      Brain (Print)
    52. BUSHBY K; ANDERSON LVB; POLLITT C; NAOM I; MUNTONI F; BINDOFF L
      ABNORMAL MEROSIN IN ADULTS - A NEW FORM OF LATE-ONSET MUSCULAR-DYSTROPHY NOT LINKED TO CHROMOSOME 6Q2

      Brain
    53. KINBARA K; SORIMACHI H; ISHIURA S; SUZUKI K
      SKELETAL MUSCLE-SPECIFIC CALPAIN, P94 - STRUCTURE AND PHYSIOLOGICAL-FUNCTION

      Biochemical pharmacology
    54. Nishio, T; Sunohara, N; Nonaka, I; Tsujino, S; Sugie, H
      Myophosphorylase deficiency and limb-girdle muscular dystrophy in the samepedigree

      ACTA NEUROLOGICA SCANDINAVICA
    55. SPEER MC; VANCE JM; LENNONGRAHAM F; STAJICH JM; VILES KD; GILCHRIST JM; NIGRO V; MCMICHAEL R; CHUTKOW JG; BARTOLONI L; HORRIGAN SK; WESTBROOK CA; PERICAKVANCE MA
      EXCLUSION OF IDENTIFIED LGMD1 LOCI FROM 4 DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY FAMILIES

      Human heredity
    56. HUMM A; FRITSCHE E; STEINBACHER S
      STRUCTURE AND REACTION-MECHANISM OF L-ARGININE-GLYCINE AMIDINOTRANSFERASE

      Biological chemistry
    57. TAYLOR J; MUNTONI F; ROBB S; DUBOWITZ V; SEWRY C
      EARLY-ONSET AUTOSOMAL-DOMINANT MYOPATHY WITH RIGIDITY OF THE SPINE - A POSSIBLE ROLE FOR LAMININ BETA-1

      Neuromuscular disorders
    58. TOPALOGLU H; DINCER P; RICHARD I; AKCOREN Z; ALEHAN D; OZME S; CAGLAR M; KARADUMAN A; URTIZBEREA JA; BECKMANN JS
      CALPAIN-3 DEFICIENCY CAUSES A MILD MUSCULAR-DYSTROPHY IN CHILDHOOD

      Neuropediatrics
    59. STUBGEN JP; STIPP A
      LIMB-GIRDLE MUSCULAR-DYSTROPHY - A PROSPECTIVE FOLLOW-UP-STUDY OF FUNCTIONAL IMPAIRMENT

      Muscle & nerve
    60. FANG W; HUANG CC; CHU NS; CHEN CJ; LU CS; WANG CC
      CHILDHOOD-ONSET AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH CARDIAC CONDUCTION BLOCK

      Muscle & nerve
    61. SPENCER MJ; TIDBALL JG; ANDERSON LVB; BUSHBY KMD; HARRIS JB; PASSOSBUENO MR; SOMER H; VAINZOF M; ZATZ M
      ABSENCE OF CALPAIN-3 IN A FORM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A)

      Journal of the neurological sciences
    62. 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
    63. BARRESI R; CONFALONIERI V; LANFOSSI M; DIBLASI C; TORCHIANA E; MANTEGAZZA R; JARRE L; NARDOCCI N; BOFFI P; TEZZON F; PINI A; CORNELIO F; MORA M; MORANDI L
      CONCOMITANT DEFICIENCY OF BETA-SARCOGLYCANS AND GAMMA-SARCOGLYCANS IN20 ALPHA-SARCOGLYCAN (ADHALIN)-DEFICIENT PATIENTS - IMMUNOHISTOCHEMICAL ANALYSIS AND CLINICAL ASPECTS

      Acta Neuropathologica
    64. 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
    65. 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
    66. SEWRY CA; TAYLOR J; ANDERSON LVB; OZAWA E; POGUE R; PICCOLO F; BUSHBY K; DUBOWITZ V; MUNTONI F
      ABNORMALITIES IN ALPHA-SARCOGLYCAN, BETA-SARCOGLYCAN AND GAMMA-SARCOGLYCAN IN PATIENTS WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY

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

      Neuromuscular disorders
    68. PASH MP; BALATON J; EAGLE C
      ANESTHETIC MANAGEMENT OF A PARTURIENT WITH SEVERE MUSCULAR-DYSTROPHY,LUMBAR LORDOSIS AND A DIFFICULT AIRWAY

      Canadian journal of anaesthesia
    69. STUBGEN JP
      LIMB-GIRDLE MUSCULAR-DYSTROPHY - A RADIOLOGIC AND MANOMETRIC STUDY OFTHE PHARYNX AND ESOPHAGUS

      Dysphagia
    70. OEXLE K; HERRMANN R; DODE C; LETURCQ F; HUBNER C; KAPLAN JC; MIZUNO Y; OZAWA E; CAMPBELL KP; VOIT T
      NEUROSENSORY HEARING-LOSS IN SECONDARY ADHALINOPATHY

      Neuropediatrics
    71. PASSOSBUENO MR; MOREIRA ES; MARIE SK; BASHIR R; VASQUEZ L; LOVE DR; VAINZOF M; IUGHETTI P; OLIVEIRA JR; BAKKER E; STRACHAN T; BUSHBY K; ZATZ M
      MAIN CLINICAL-FEATURES OF THE 3 MAPPED AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES AND ESTIMATED PROPORTION OF EACH FORM IN 13 BRAZILIAN FAMILIES

      Journal of Medical Genetics
    72. 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
    73. VANDERKOOI AJ; BARTH PG; BUSCH HFM; DEHAAN R; GINJAAR HB; VANESSEN AJ; VANHOOFF LJMA; HOWELER CJ; JENNEKENS FGI; JONGEN P; OOSTERHUIS HJGH; PADBERG GWAM; SPAANS F; WINTZEN AR; WOKKE JHJ; BAKKER E; VANOMMEN GJB; BOLHUIS PA; DEVISSER M
      THE CLINICAL SPECTRUM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY - A SURVEY INTHE NETHERLANDS

      Brain
    74. FARDEAU M; HILLAIRE D; MIGNARD C; FEINGOLD N; FEINGOLD J; MIGNARD D; DEUBEDA B; COLLIN H; TOME FMS; RICHARD I; BECKMANN J
      JUVENILE LIMB-GIRDLE MUSCULAR-DYSTROPHY CLINICAL, HISTOPATHOLOGICAL AND GENETIC DATA FROM A SMALL COMMUNITY LIVING IN THE REUNION-ISLAND

      Brain
    75. MAHJNEH I; BUSHBY K; PIZZI A; BASHIR R; MARCONI G
      LIMB-GIRDLE MUSCULAR-DYSTROPHY - A FOLLOW-UP-STUDY OF 79 PATIENTS

      Acta neurologica Scandinavica
    76. VAINZOF M; PASSOSBUENO MR; PAVANELLO RCM; ZATZ M
      IS DYSTROPHIN ALWAYS ALTERED IN BECKER MUSCULAR-DYSTROPHY PATIENTS

      Journal of the neurological sciences
    77. YAMANOUCHI Y; ARIKAWA E; ARAHATA K; OZAWA E; NONAKA I
      LIMB-GIRDLE MUSCULAR-DYSTROPHY - CLINICAL AND PATHOLOGICAL REEVALUATION

      Journal of the neurological sciences
    78. NIELSEN JF; JAKOBSEN J
      A DANISH FAMILY WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE

      Neuromuscular disorders
    79. SCHRODER R; BEYENBURG S; WEBER J; OLEK K; ZIERZ S
      MYOTONIC-DYSTROPHY AND LIMB-GIRDLE MUSCULAR-DYSTROPHY IN ONE FAMILY

      The Clinical investigator
    80. BEYENBURG S; ZIERZ S; ARAHATA K; MUNDEGAR RR; FRIEDL W; JERUSALEM F
      ABNORMAL DYSTROPHIN EXPRESSION IN PATIENTS WITH LIMB-GIRDLE SYNDROMES

      Journal of neurology
    81. STUBGEN JP
      LIMB-GIRDLE MUSCULAR-DYSTROPHY - DESCRIPTION OF A PHENOTYPE

      Muscle & nerve
    82. FARDEAU M; MATSUMURA K; TOME FMS; COLLIN H; LETURCQ F; KAPLAN JC; CAMPBELL KP
      DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN (ADHALIN)IN SEVERE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN CHILDREN NATIVEFROM EUROPEAN COUNTRIES

      Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
    83. VELINOV M; SARFARAZI M; YOUNG K; HODES ME; CONNEALLY PM; JACKSON CE; TSIPOURAS P
      LIMB-GIRDLE MUSCULAR-DYSTROPHY IS CLOSELY LINKED TO THE FIBRILLIN LOCUS ON CHROMOSOME-15

      Connective tissue research
    84. STUBGEN JP
      LIMB-GIRDLE MUSCULAR-DYSTROPHY - A NONINVASIVE CARDIAC EVALUATION

      Cardiology


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Documento generato il 18/01/21 alle ore 19:02:28