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La ricerca find articoli where soggetti phrase all words 'congenital myopathy' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 83 riferimenti
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    1. Sanoudou, D; Beggs, AH
      Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments

      TRENDS IN MOLECULAR MEDICINE
    2. 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
    3. 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
    4. 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
    5. 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
    6. Goebel, HH; Warlo, IAP
      Surplus protein myopathies

      NEUROMUSCULAR DISORDERS
    7. Goebel, HH; Halbig, LE; Goldfarb, L; Schober, R; Albani, M; Neuen-Jacob, E; Voit, T
      Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: Amixed congenital myopathy

      NEUROPEDIATRICS
    8. Selcen, D; Kupsky, WJ; Benjamins, D
      Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome?

      MUSCLE & NERVE
    9. Avila, G; O'Brien, JJ; Dirksen, RT
      Excitation-contraction uncoupling by a human central core disease mutationin the ryanodine receptor

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    10. Zhou, Q; Chu, PH; Huang, CQ; Cheng, CF; Martone, ME; Knoll, G; Shelton, GD; Evans, S; Chen, J
      Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy

      JOURNAL OF CELL BIOLOGY
    11. Olsen, DB; Langkilde, AR; Schmalbruch, H; Vissing, J
      Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy

      EUROPEAN JOURNAL OF NEUROLOGY
    12. Goebel, HH; Warlo, I
      Gene-related protein surplus myopathies

      MOLECULAR GENETICS AND METABOLISM
    13. Laporte, J; Biancalana, V; Tanner, SM; Kress, W; Schneider, V; Wallgren-Pettersson, C; Herger, F; Buj-Bello, A; Blondeau, F; Liechti-Gallati, S; Mandel, JL
      MTM1 mutations in X-linked myotubular myopathy

      HUMAN MUTATION
    14. Jungbluth, H; Sewry, C; Brown, SC; Manzur, AY; Mercuri, E; Bushby, K; Rowe, P; Johnson, MA; Hughes, I; Kelsey, A; Dubowitz, V; Muntoni, F
      Minicore myopathy in children: a clinical and histopathological study of 19 cases

      NEUROMUSCULAR DISORDERS
    15. Schnell, C; Kan, A; North, KN
      'An artefact gone awry': Identification of the first case of nemaline myopathy by Dr R.D.K. Reye

      NEUROMUSCULAR DISORDERS
    16. Goebel, HH; Warlo, IAP
      Progress in desmin-related myopathies

      JOURNAL OF CHILD NEUROLOGY
    17. Kim, WK; Choi, BO; Cheon, HY; Sunwoo, IN; Kim, TS
      Muscle fiber type disproportion with an autosomal dominant inheritance

      YONSEI MEDICAL JOURNAL
    18. 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
    19. Bartholomeus, MGT; Gabreels, FJM; ter Laak, HJ; van Engelen, GBM
      Congenital fibre type disproportion a time-locked diagnosis: A clinical and morphological follow-up study

      CLINICAL NEUROLOGY AND NEUROSURGERY
    20. Miro, O; Laguno, M; Masanes, F; Perea, M; Urbano-Marquez, A; Grau, JM
      Congenital and metabolic myopathies of childhood or adult onset

      SEMINARS IN ARTHRITIS AND RHEUMATISM
    21. Rowe, PW; Eagle, M; Pollitt, C; Bullock, RE; Bushby, KMD
      Multicore myopathy: respiratory failure and paraspinal muscle contracturesare important complications

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    22. 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
    23. Engel, AG
      Myofibrillar myopathy

      ANNALS OF NEUROLOGY
    24. Fukuda, K; Koto, A; Fukuuchi, Y; Ishihara, T
      Characteristic form of standing up from squatting in Miyoshi's distal muscular dystrophy

      CLINICAL NEUROLOGY AND NEUROSURGERY
    25. Vorwerk, P; Christoffersen, CT; Muller, J; Vestergaard, H; Pedersen, O; De Meyts, P
      Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy)

      HORMONE RESEARCH
    26. Ryan, A; Marshall, T; FitzPatrick, DR
      Carey-Fineman-Ziter (CFZ) syndrome: Report on affected sibs

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Palmucci, L; Doriguzzi, C; Mongini, T; Chiado-Piat, L; Ugo, I
      Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy

      EUROPEAN NEUROLOGY
    28. Klein, HH; Muller, R; Vestergaard, H; Pedersen, O
      Implications of compound heterozygous insulin receptor mutations in congenital muscle fibre type disproportion myopathy for the receptor kinase activation

      DIABETOLOGIA
    29. Imoto, C; Kimura, S; Kawai, M; Nonaka, I
      Nebulin is normally expressed in nemaline myopathy

      ACTA NEUROPATHOLOGICA
    30. Caron, A; Gohel, C; Mollaret, K; Morello, R; Chapon, F
      Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies

      ACTA NEUROPATHOLOGICA
    31. Furuoka, H; Murakami, A; Tsuchihashi, M; Yokota, H; Doi, T; Kobayashi, Y; Matsui, T; Horiuchi, M; Taniyama, H
      Immunohistochemical study of some cytoskeletal proteins in hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle

      ACTA NEUROPATHOLOGICA
    32. NISHINO I; MINAMI N; KOBAYASHI O; IKEZAWA M; GOTO Y; ARAHATA K; NONAKA I
      MTM1 GENE-MUTATIONS IN JAPANESE PATIENTS WITH THE SEVERE INFANTILE FORM OF MYOTUBULAR MYOPATHY

      Neuromuscular disorders
    33. SEWRY CA
      THE ROLE OF IMMUNOCYTOCHEMISTRY IN CONGENITAL MYOPATHIES

      Neuromuscular disorders
    34. LOBRINUS JA; JANZER RC; KUNTZER T; MATTHIEU JM; PFEND G; GOY JJ; BOGOUSSLAVSKY J
      FAMILIAL CARDIOMYOPATHY AND DISTAL MYOPATHY WITH ABNORMAL DESMIN ACCUMULATION AND MIGRATION

      Neuromuscular disorders
    35. ITAKURA Y; OGAWA Y; MURAKAMI N; NONAKA I
      SEVERE INFANTILE CONGENITAL MYOPATHY WITH NEMALINE AND CYTOPLASMIC BODIES - A CASE-REPORT

      Brain & development
    36. OPERTI MG; VINCENT MF; BRUCHER JM; VANDENBERGHE G
      ENZYMES OF THE PURINE NUCLEOTIDE CYCLE IN MUSCLE OF PATIENTS WITH EXERCISE INTOLERANCE

      Muscle & nerve
    37. ZANOTELI E; OLIVEIRA ASB; SCHMIDT B; GABBAI AA
      CENTRONUCLEAR MYOPATHY - CLINICAL ASPECTS OF 10 BRAZILIAN PATIENTS WITH CHILDHOOD-ONSET

      Journal of the neurological sciences
    38. GOTTSCHALK A; HEIMANPATTERSON T; DEQUEVEDO R; QUINN PD
      GENERAL-ANESTHESIA FOR A PATIENT WITH CENTRONUCLEAR (MYOTUBULAR) MYOPATHY

      Anesthesiology
    39. MARBINI A; GEMIGNANI F; BADIALI L; BELLANOVA MF; MARGARITO F
      CONGENITAL MYOPATHY WITH MOSAIC FIBERS AND INTERLACING SARCOMERES - ANEW STRUCTURAL MYOPATHY

      Acta Neuropathologica
    40. PALLAGI E; MOLNAR M; MOLNAR P; DIOSZEGHY P
      CENTRAL CORE AND NEMALINE RODS IN THE SAME PATIENT

      Acta Neuropathologica
    41. WOCKEL L; KETELSEN UP; STOTTER M; LAULE S; MEYERMANN R; BORNEMANN A
      ABUNDANT MINUTE MYOTUBES IN A PATIENT WHO LATER DEVELOPED CENTRONUCLEAR MYOPATHY

      Acta Neuropathologica
    42. PELIN K; RIDANPAA M; DONNER K; WILTON S; KRISHNARAJAH J; LAING N; KOLMERER B; MILLEVOI S; LABEIT S; DELACHAPELLE A; WALLGRENPETTERSON C
      REFINED LOCALIZATION OF THE GENES FOR NEBULIN AND TITIN ON CHROMOSOME2Q ALLOWS THE ASSIGNMENT OF NEBULIN AS A CANDIDATE GENE FOR AUTOSOMALRECESSIVE NEMALINE MYOPATHY

      European journal of human genetics
    43. GOEBEL HH; ANDERSON JR; HUBNER C; OEXLE K; WARLO I
      CONGENITAL MYOPATHY WITH EXCESS OF THIN MYOFILAMENTS

      Neuromuscular disorders
    44. GOEBEL HH; PIIRSOO A; WARLO I; SCHOFER O; KEHR S; GAUDE M
      INFANTILE INTRANUCLEAR ROD MYOPATHY

      Journal of child neurology
    45. WILLEMSEN MAAP; VANOORT AM; TERLAAK HJ; SENGERS RCA; GABREELS FJM
      MULTICORE MYOPATHY WITH RESTRICTIVE CARDIOMYOPATHY

      Acta paediatrica
    46. MURANAKA H; OSARI S; FUJITA H; KIMURA Y; GOTO A; IMOTO C; NONAKA I
      CONGENITAL FAMILIAL MYOPATHY WITH TYPE-2 FIBER HYPOPLASIA AND TYPE-1 FIBER PREDOMINANCE

      Brain & development
    47. GOEBEL HH; DAGOSTINO AN; WILSON J; COLE G; FOROUD T; KOLLER D; FARLOW M; AZZARELLI B; MULLER J
      SPHEROID BODY MYOPATHY REVISITED

      Muscle & nerve
    48. FELICE KJ; GRUNNET ML
      AUTOSOMAL-DOMINANT CENTRONUCLEAR MYOPATHY - REPORT OF A NEW FAMILY WITH CLINICAL-FEATURES SIMULATING FACIOSCAPULOHUMERAL SYNDROME

      Muscle & nerve
    49. DANON MJ; GIOMETTI CS; MANALIGOD JR; SWISHER C
      SEQUENTIAL MUSCLE BIOPSY CHANGES IN A CASE OF CONGENITAL MYOPATHY

      Muscle & nerve
    50. FADIC R; WACLAWIK AJ; BROOKS BR; LOTZ BP
      THE RIGID SPINE SYNDROME DUE TO ACID MALTASE DEFICIENCY

      Muscle & nerve
    51. ZEMAN AZJ; DICK DJ; ANDERSON JR; WATKIN SW; SMITH IE; SHNEERSON JM
      MULTICORE MYOPATHY PRESENTING IN ADULTHOOD WITH RESPIRATORY-FAILURE

      Muscle & nerve
    52. NORTH KN; LAING NG; WALLGRENPETTERSSON C; AKKARI A; BAROHN R; BARTH P; BEGGS A; DELACHAPELLE A; DEVISSER M; DUBOWITZ V; FISZMAN M; GOEBEL H; IANNACCONE S; JASANI B; LABEIT S; LAMMENS M; NAVARRO C; NEWMAN G; PELIN K; ROMERO N; SEWRY C; SLOANE A
      NEMALINE MYOPATHY - CURRENT CONCEPTS

      Journal of Medical Genetics
    53. 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
    54. TSAI CH; HUANG WS; TSAI FJ; LEE CC; CHEN SS
      X-LINKED RECESSIVE MYOTUBULAR MYOPATHY PROVEN BY MUSCLE BIOPSY

      Journal of the Formosan Medical Association
    55. AKIYAMA C; NONAKA I
      A FOLLOW-UP-STUDY OF CONGENITAL NONPROGRESSIVE MYOPATHIES

      Brain & development
    56. UROCOSTE E; LELONGTISSIER MC; MAIRE I; CEUTERICK C; CHAUSSERAY F; DELISLE MB
      TYPE-IV GLYCOGENOSIS - CONGENITAL VARIANT - REPORT OF A CASE

      Annales de pathologie
    57. MRAK RE; GRIEBEL M; BRODSKY MC
      BROAD A-BAND DISEASE - A NEW, BENIGN CONGENITAL MYOPATHY

      Muscle & nerve
    58. PRELLE A; RIGOLETTO C; MOGGIO M; SCIACCO M; COMI GP; CISCATO P; FAGIOLARI G; RAPUZZI S; BIGNOTTI V; SCARLATO G
      ASYMPTOMATIC FAMILIAL HYPERCKEMIA ASSOCIATED WITH DESMIN ACCUMULATIONIN SKELETAL-MUSCLE

      Journal of the neurological sciences
    59. NAKANO S; ENGEL AG; WACLAWIK AJ; EMSLIESMITH AM; BUSIS NA
      MYOFIBRILLAR MYOPATHY WITH ABNORMAL POOL OF DESMIN POSITIVITY .1. LIGHT AND ELECTRON-MICROSCOPY ANALYSIS OF 10 CASES

      Journal of neuropathology and experimental neurology
    60. BAETA AM; FIGARELLABRANGER D; BILLETURE F; LEPIDI H; PELLISSIER JF
      FAMILIAL DESMIN MYOPATHIES AND CYTOPLASMIC BODY MYOPATHIES

      Acta Neuropathologica
    61. BORNEMANN A; PETERSEN MB; SCHMALBRUCH H
      FATAL CONGENITAL MYOPATHY WITH ACTIN FILAMENT DEPOSITS

      Acta Neuropathologica
    62. WALLGRENPETTERSSON C; AVELA K; MARCHAND S; KOLEHMAINEN J; TAHVANAINEN E; HANSEN FJ; MUNTONI F; DUBOWITZ V; DEVISSER M; VANLANGEN IM; LAING NG; FAURE S; DELACHAPELLE A
      A GENE FOR AUTOSOMAL RECESSIVE NEMALINE MYOPATHY ASSIGNED TO CHROMOSOME 2Q BY LINKAGE ANALYSIS

      Neuromuscular disorders
    63. GOEBEL HH; FARDEAU M
      WORKSHOP REPORT - DESMIN IN MYOLOGY - 24TH EUROPEAN NEUROMUSCULAR CENTER-SPONSORED WORKSHOP HELD 5-6 NOVEMBER 1993, NAARDEN, THE NETHERLANDS

      Neuromuscular disorders
    64. SEKIJIMA Y; IKEDA S; KATAI S; MATSUDA M; HASHIMOTO T; HARUTA S; OWA M; SAKAI T; TAKEDA S; YANAGISAWA N
      CYTOPLASMIC BODY MYOPATHY WITH HYPERTROPHIC CARDIOMYOPATHY

      Internal medicine
    65. WILLIG TN; BACH JR; ROUFFET MJ; KRIVICKAS LS; MAQUET C
      CORRELATION OF FLEXION CONTRACTURES WITH UPPER EXTREMITY FUNCTION ANDPAIN FOR SPINAL MUSCULAR-ATROPHY AND CONGENITAL MYOPATHY PATIENTS

      American journal of physical medicine & rehabilitation
    66. GOEBEL HH
      DESMIN-RELATED NEUROMUSCULAR DISORDERS

      Muscle & nerve
    67. FALGATIRADO C; PEREZPEMAN P; ORDIROS J; BOFILL JM; BALCELLS E
      ADULT-ONSET OF NEMALINE MYOPATHY PRESENTING AS RESPIRATORY INSUFFICIENCY

      Respiration
    68. KIYOMOTO BH; MURAKAMI N; KOBAYASHI Y; NIHEI K; TANAKA T; TAKESHITA K; NONAKA I
      FATAL REDUCING BODY MYOPATHY - ULTRASTRUCTURAL AND IMMUNOHISTOCHEMICAL OBSERVATIONS

      Journal of the neurological sciences
    69. FURUOKA H; DOI T; NAKAMURA N; INADA I; OSAME S; MATSUI T
      HEREDITARY MYOPATHY OF THE DIAPHRAGMATIC MUSCLES IN HOLSTEIN-FRIESIANCATTLE

      Acta Neuropathologica
    70. CARON A; VIADER F; LECHEVALIER B; CHAPON F
      CYTOPLASMIC BODY MYOPATHY - FAMILIAL CASES WITH ACCUMULATION OF DESMIN AND DYSTROPHIN - AN IMMUNOHISTOCHEMICAL, IMMUNOELECTRON MICROSCOPIC AND BIOCHEMICAL-STUDY

      Acta Neuropathologica
    71. BAROHN RJ; JACKSON CE; KAGANHALLET KS
      NEONATAL NEMALINE MYOPATHY WITH ABUNDANT INTRANUCLEAR RODS

      Neuromuscular disorders
    72. MUNTONI F; CATANI G; MATEDDU A; RIMOLDI M; CONGIU T; FAA G; MARROSU MG; CIANCHETTI C; PORCU M
      FAMILIAL CARDIOMYOPATHY, MENTAL-RETARDATION AND MYOPATHY ASSOCIATED WITH DESMIN-TYPE INTERMEDIATE FILAMENTS

      Neuromuscular disorders
    73. NAGAI T; TSUCHIYA Y; MARUYAMA A; TAKEMITSU M; NONAKA I
      SCOLIOSIS ASSOCIATED WITH CENTRAL CORE DISEASE

      Brain & development
    74. JOHNSON DC; KAZEMI H
      CENTRAL CONTROL OF VENTILATION IN NEUROMUSCULAR DISEASE

      Clinics in chest medicine
    75. ROCHESTER DF; ESAU SA
      ASSESSMENT OF VENTILATORY FUNCTION IN PATIENTS WITH NEUROMUSCULAR DISEASE

      Clinics in chest medicine
    76. MACKAY B; EWER MS; CARRASCO CH; BENJAMIN RS
      ASSESSMENT OF ANTHRACYCLINE CARDIOMYOPATHY BY ENDOMYOCARDIAL BIOPSY

      Ultrastructural pathology
    77. BODENSTEINER JB
      CONGENITAL MYOPATHIES

      Muscle & nerve
    78. POURMAND R; AZZARELLI B
      ADULT-ONSET OF NEMALINE MYOPATHY, ASSOCIATED WITH CORES AND ABNORMAL MITOCHONDRIA

      Muscle & nerve
    79. GOEBEL HH; VOIT T; WARLO I; JACOBS K; JOHANNSEN U; MULLER CR
      IMMUNOHISTOLOGIC AND ELECTRON-MICROSCOPIC ABNORMALITIES OF DESMIN ANDDYSTROPHIN IN FAMILIAL CARDIOMYOPATHY AND MYOPATHY

      Revue neurologique
    80. HELLIWELL TR; GREEN ART; GREEN A; EDWARDS RHT
      HEREDITARY DISTAL MYOPATHY WITH GRANULO-FILAMENTOUS CYTOPLASMIC INCLUSIONS CONTAINING DESMIN, DYSTROPHIN AND VIMENTIN

      Journal of the neurological sciences
    81. SCHIMKE RN; COLLINS DL; HIEBERT JM
      CONGENITAL NONPROGRESSIVE MYOPATHY WITH MOBIUS AND ROBIN-SEQUENCE - THE CAREY-FINEMAN-ZITER SYNDROME - A CONFIRMATORY REPORT

      American journal of medical genetics
    82. ABE K; KOBAYASHI K; CHIDA K; KIMURA N; KOGURE K
      DOMINANTLY INHERITED CYTOPLASMIC BODY MYOPATHY IN A JAPANESE KINDRED

      Tohoku Journal of Experimental Medicine
    83. GOEBEL HH; BORNEMANN A
      DESMIN PATHOLOGY IN NEUROMUSCULAR DISEASES

      Virchows Archiv including cell pathology including molecular pathology


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Documento generato il 15/08/20 alle ore 00:29:32