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La ricerca find articoli where soggetti phrase all words 'RECESSIVE MUSCULAR-DYSTROPHY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 51 riferimenti
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    1. 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
    2. 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
    3. Urganci, N; Erkan, T; Serdaroglu, P; Ozcelik, G; Dogan, S; Kayaalp, N
      A rare cause of high transaminasemia: Autosomal muscle dystrophy with gamma sarcoglycan

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    4. Mizuno, Y; Thompson, TC; Guyon, JR; Lidov, HGW; Brosius, M; Imamura, M; Ozawa, E; Watkins, SC; Kunkel, LM
      Desmuslin, an intermediate filament protein that interacts with alpha-dystrobrevin and desmin

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. Noguchi, S; Wakabayashi, E; Imamura, M; Yoshida, M; Ozawa, E
      Formation of sarcoglycan complex with differentiation in cultured myocytes

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    11. Date, M; Otsu, K; Nishida, K; Toyofuku, T; Matsumura, Y; Morita, T; Hirotani, S; Okazaki, Y; Hayashizaki, Y; Nigro, V; Kuzuya, T; Tada, M; Hori, M
      Single-strand conformation polymorphism analysis on the delta-sarcoglycan gene in Japanese patients with hypertrophic cardiomyopathy

      AMERICAN JOURNAL OF CARDIOLOGY
    12. Angelini, C; Fanin, M; Freda, MP; Duggan, DJ; Siciliano, G; Hoffman, EP
      The clinical spectrum of sarcoglycanopathies

      NEUROLOGY
    13. 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
    14. Betto, R; Senter, L; Ceoldo, S; Tarricone, E; Biral, D; Salviati, G
      Ecto-ATPase activity of alpha-sarcoglycan (adhalin)

      JOURNAL OF BIOLOGICAL CHEMISTRY
    15. Noguchi, S; Wakabayashi, E; Imamura, M; Yoshida, M; Ozawa, E
      Developmental expression of sarcoglycan gene products in cultured myocytes

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    16. LAMANDE SR; BATEMAN JF; HUTCHISON W; GARDNER RJM; BOWER SP; BYRNE E; DAHL HHM
      REDUCED COLLAGEN-VI CAUSES BETHLEM MYOPATHY - A HETEROZYGOUS COL6A1 NONSENSE MUTATION RESULTS IN MESSENGER-RNA DECAY AND FUNCTIONAL HAPLOINSUFFICIENCY

      Human molecular genetics
    17. 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
    18. 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
    19. CONNOLLY AM; PESTRONK A; MEHTA S; ALLOZI M
      PRIMARY ALPHA-SARCOGLYCAN DEFICIENCY RESPONSIVE TO IMMUNOSUPPRESSION OVER 3 YEARS

      Muscle & nerve
    20. 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
    21. 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
    22. NIGRO V; OKAZAKI Y; BELSITO A; PILUSO G; MATSUDA Y; POLITANO L; NIGRO G; VENTURA C; ABBONDANZA C; MOLINARI AM; ACAMPORA D; NISHIMURA M; HAYASHIZAKI Y; PUCA GA
      IDENTIFICATION OF THE SYRIAN-HAMSTER CARDIOMYOPATHY GENE

      Human molecular genetics
    23. SCOPPETTA C; MERCURI B; DILELLO R; TOLLI VS; MENNUNI GF; VACCARIO ML
      AUTOSOMAL RECESSIVE DISTAL MUSCULAR-DYSTROPHY

      Italian journal of neurological sciences
    24. DURBEEJ M; EKBLOM P
      DYSTROGLYCAN AND LAMININS - GLYCOCONJUGATES INVOLVED IN BRANCHING EPITHELIAL MORPHOGENESIS

      Experimental lung research
    25. DUGGAN DJ; GOROSPE JR; FANIN M; HOFFMAN EP; ANGELINI C; PEGORARO E; NOGUCHI S; OZAWA E; PENDLEBURY W; WACLAWIK AJ; DUENAS DA; HAUSMANOWAPETRUSEWICZ I; FIDZIANSKA A; BEAN SC; HALLER JS; BODENSTEINER J; GRECO CM; PESTRONK A; BERARDINELLI A; GELINAS DF; ABRAM H; KUNEL RW
      MUTATIONS IN THE SARCOGLYCAN GENES IN PATIENTS WITH MYOPATHY

      The New England journal of medicine
    26. 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
    27. YOSHIDA M; NOGUCHI S; WAKABAYASHI E; PILUSO G; BELSITO A; NIGRO V; OZAWA E
      THE 4TH COMPONENT OF THE SARCOGLYCAN COMPLEX

      FEBS letters
    28. 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
    29. NIGRO V; PILUSO G; BELSITO A; POLITANO L; PUCA AA; PAPPARELLA S; ROSSI E; VIGLIETTO G; ESPOSITO MG; ABBONDANZA C; MEDICI N; MOLINARI AM; NIGRO G; PUCA GA
      IDENTIFICATION OF A NOVEL SARCOGLYCAN GENE AT 5Q33 ENCODING A SARCOLEMMAL 35 KDA GLYCOPROTEIN

      Human molecular genetics
    30. BECKMANN JS
      GENETIC-STUDIES AND MOLECULAR-STRUCTURES - THE DYSTROPHIN-ASSOCIATED COMPLEX

      Human molecular genetics
    31. PICCOLO F; JEANPIERRE M; LETURCQ F; DODE C; AZIBI K; TOUTAIN A; MERLINI L; JARRE L; NAVARRO C; KRISHNAMOORTHY R; TOME FMS; URTIZBEREA JA; BECKMANN JS; CAMPBELL KP; KAPLAN JC
      A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA

      Human molecular genetics
    32. 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
    33. DUGGAN DJ; HOFFMAN EP
      AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY AND MUTATIONS OF THE SARCOGLYCAN COMPLEX

      Neuromuscular disorders
    34. HENRY MD; CAMPBELL KP
      DYSTROGLYCAN - AN EXTRACELLULAR-MATRIX RECEPTOR-LINKED TO THE CYTOSKELETON

      Current opinion in cell biology
    35. MORANDI L; BARRESI R; DIBLASI C; JUNG D; SUNADA Y; CONFALONIERI V; DWORZAK F; MANTEGAZZA R; ANTOZZI C; JARRE L; PINI A; GOBBI G; BIANCHI C; CORNELIO F; CAMPBELL KP; MORA M
      CLINICAL HETEROGENEITY OF ADHALIN DEFICIENCY

      Annals of neurology
    36. WAKAYAMA Y; INOUE M; MURAHASHI M; SHIBUYA S; JIMI T; KOJIMA H; ONIKI H
      ULTRASTRUCTURAL-LOCALIZATION OF ADHALIN IN NORMAL MURINE SKELETAL MYOFIBER

      Annals of neurology
    37. SALIH MAM; MAHDI AH; ALJARALLAH AA; ALJARALLAH AS; ALSAADI M; HAFEEZ MA; AZIZ SA
      CHILDHOOD NEUROMUSCULAR DISORDERS - A DECADES EXPERIENCE IN SAUDI-ARABIA

      Annals of tropical paediatrics
    38. 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
    39. HIGUCHI I; FUKUNAGA H; MOTOKURA F; GOTO T; NIIYAMA N; INOSE M; IZUMI K; OHKUBO R; NAKAGAWA M; ARIMURA K; OSAME M
      CHARACTERISTIC EXPRESSION OF CELL-ADHESION MOLECULES IN ADHALIN DEFICIENCY

      Journal of the neurological sciences
    40. 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
    41. ILLARIOSHKIN SN; IVANOVASMOLENSKAYA IA; TANAKA H; VERESHCHAGIN NV; MARKOVA ED; POLESHCHUK VV; LOZHNIKOVA SM; SUKHORUKOV VS; LIMBORSKA SA; SLOMINSKY PA; BULAYEVA KB; TSUJI S
      CLINICAL AND MOLECULAR ANALYSIS OF A LARGE FAMILY WITH 3 DISTINCT PHENOTYPES OF PROGRESSIVE MUSCULAR-DYSTROPHY

      Brain
    42. INOUE M; WAKAYAMA Y; MURAHASHI M; SHIBUYA S; JIMI T; KOJIMA H; ONIKI H
      ELECTRON-MICROSCOPIC OBSERVATIONS OF TRIPLE IMMUNOGOLD LABELING FOR DYSTROPHIN, BETA-DYSTROGLYCAN AND ADHALIN IN HUMAN SKELETAL MYOFIBERS

      Acta Neuropathologica
    43. HIGUCHI I; FUKUNAGA H; MATSUMURA K; INOSE M; IZUMI K; OKUBO R; NAKAGAWA M; SHIMIZU T; OSAME M
      ABNORMAL EXPRESSION OF HEPARAN-SULFATE PROTEOGLYCAN ON BASAL LAMINA OF MUSCLE-FIBERS IN 2 JAPANESE PATIENTS WITH ADHALIN DEFICIENCY

      Neuromuscular disorders
    44. DIOSZEGHY P; MOLNAR M; MECHLER F
      BECKER-LIKE MUSCULAR-DYSTROPHY IN SISTERS

      European archives of psychiatry and clinical neuroscience
    45. MCDONALD CM; JOHNSON ER; ABRESCH RT; CARTER GT; FOWLER WM; KILMER DD
      PROFILES OF NEUROMUSCULAR DISEASES - LIMB-GIRDLE SYNDROMES

      American journal of physical medicine & rehabilitation
    46. KAWAI H; AKAIKE M; ENDO T; ADACHI K; INUI T; MITSUI T; KASHIWAGI S; FUJIWARA T; OKUNO S; SHIN S; MIYOSHI K; CAMPBELL KP; YAMADA H; SHIMIZU T; MATSUMURA K; SAITO S
      ADHALIN GENE-MUTATIONS IN PATIENTS WITH AUTOSOMAL RECESSIVE CHILDHOOD-ONSET MUSCULAR-DYSTROPHY WITH ADHALIN DEFICIENCY

      The Journal of clinical investigation
    47. TOME FMS; MATSUMURA K; CHEVALLAY M; CAMPBELL KP; FARDEAU M
      EXPRESSION OF DYSTROPHIN-ASSOCIATED GLYCOPROTEINS DURING HUMAN FETAL MUSCLE DEVELOPMENT - A PRELIMINARY IMMUNOCYTOCHEMICAL STUDY

      Neuromuscular disorders
    48. XU H; CHRISTMAS P; WU XR; WEWER UM; ENGVALL E
      DEFECTIVE MUSCLE BASEMENT-MEMBRANE AND LACK OF M-LAMININ IN THE DYSTROPHIC DY DY MOUSE/

      Proceedings of the National Academy of Sciences of the United Statesof America
    49. YAMANOUCHI Y; OZAWA E; NONAKA I
      AUTOSOMAL RECESSIVE DISTAL MUSCULAR-DYSTROPHY - NORMAL EXPRESSION OF DYSTROPHIN, UTROPHIN AND DYSTROPHIN-ASSOCIATED PROTEINS IN MUSCLE-FIBERS

      Journal of the neurological sciences
    50. HAMIDA CB; SOUSSIYANICOSTAS N; BEJAOUI K; BUTLERBROWNE GS; HENTATI F; BENHAMIDA M
      EXPRESSION OF MYOSIN ISOFORMS AND OF DESMIN, VIMENTIN AND TITIN IN TUNISIAN DUCHENNE-LIKE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY

      Journal of the neurological sciences
    51. ZATZ M; MATSUMURA K; VAINZOF M; PASSOSBUENO MR; PAVANELLO RCM; MARIE SK; CAMPBELL KP
      ASSESSMENT OF THE 50-KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN IN BRAZILIAN PATIENTS WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY

      Journal of the neurological sciences


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 20:58:23