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La ricerca find articoli where soggetti phrase all words 'NEMALINE MYOPATHY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 77 riferimenti
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    1. Tubridy, N; Fontaine, B; Eymard, B
      Congenital myopathies and congenital muscular dystrophies

      CURRENT OPINION IN NEUROLOGY
    2. Bornemann, A; Goebel, HH
      Congenital myopathies

      BRAIN PATHOLOGY
    3. 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
    4. 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
    5. Goebel, HH; Warlo, IAP
      Surplus protein myopathies

      NEUROMUSCULAR DISORDERS
    6. 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
    7. Imoto, C; Nonaka, I
      The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders

      BRAIN & DEVELOPMENT
    8. Hirshfeld, AB; Thompson, WR; Patel, A; Boone, LB; Murphy, AM
      Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Saperstein, DS; Amato, AA; Barohn, RJ
      Clinical and genetic aspects of distal myopathies

      MUSCLE & NERVE
    10. Marston, SB; Hodgkinson, JL
      Cardiac and skeletal myopathies: can genotype explain phenotype?

      JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
    11. Thirion, C; Stucka, R; Mendel, B; Gruhler, A; Jaksch, M; Nowak, KJ; Binz, N; Laing, NG; Lochmuller, H
      Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle

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

      MOLECULAR GENETICS AND METABOLISM
    13. Monnier, N; Romero, NB; Lerale, J; Nivoche, Y; Qi, D; MacLennan, DH; Fardeau, M; Lunardi, J
      An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

      HUMAN MOLECULAR GENETICS
    14. Hauser, MA; Horrigan, SK; Salmikangas, P; Torian, UM; Viles, KD; Dancel, R; Tim, RW; Taivainen, A; Bartoloni, L; Gilchrist, JM; Stajich, JM; Gaskell, PC; Gilbert, JR; Vance, JM; Pericak-Vance, MA; Carpen, O; Westbrook, CA; Speer, MC
      Myotilin is mutated in limb girdle muscular dystrophy 1A

      HUMAN MOLECULAR GENETICS
    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. Michele, DE; Metzger, JM
      Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies

      JOURNAL OF MOLECULAR MEDICINE-JMM
    17. Darras, BT; Jones, HR
      Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis

      PEDIATRIC NEUROLOGY
    18. Arimura, T; Nakamura, T; Hiroi, S; Satoh, M; Takahashi, M; Ohbuchi, N; Ueda, K; Nouchi, T; Yamaguchi, N; Akai, J; Matsumori, A; Sasayama, S; Kimura, A
      Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy

      HUMAN GENETICS
    19. Deconinck, N; Laterre, EC; Van den Bergh, PYK
      Adult-onset nemaline myopathy and monoclonal gammopathy: a case report

      ACTA NEUROLOGICA BELGICA
    20. Muller-Hocker, J; Schafer, S; Mendel, B; Lochmuller, H; Pongratz, D
      Nemaline cardiomyopathy in a young adult: An ultraimmunohistochemical study and review of the literature

      ULTRASTRUCTURAL PATHOLOGY
    21. Schroder, R; Van der Ven, PFM; Warlo, I; Schumann, H; Furst, DO; Blumcke, I; Schmidt, MC; Hatzfeld, M
      p0071, a member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle

      JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
    22. Shrager, JB; Desjardins, PR; Burkman, JM; Konig, SK; Stewart, DR; Su, L; Shah, MC; Bricklin, E; Tewari, M; Hoffman, R; Rickels, MR; Jullian, EH; Rubinstein, NA; Stedman, HH
      Human skeletal myosin heavy chain genes are tightly linked in the order embryonic-IIa-IId/x-IIb-perinatal-extraocular

      JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
    23. 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
    24. Scacheri, PC; Hoffman, EP; Fratkin, JD; Semino-Mora, C; Senchak, A; Davis, MR; Laing, NG; Vedanarayanan, V; Subramony, SH
      A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

      NEUROLOGY
    25. Martinsson, T; Oldfors, A; Darin, N; Berg, K; Tajsharghi, H; Kyllerman, M; Wahlstrom, J
      Autosomal dominant myopathy: Missense mutation (Glu-706 -> Lys) in the myosin heavy chain IIa gene

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    26. Pieples, K; Wieczorek, DF
      Tropomyosin 3 increases striated muscle isoform diversity

      BIOCHEMISTRY
    27. Laing, NG
      Inherited disorders of sarcomeric proteins

      CURRENT OPINION IN NEUROLOGY
    28. 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
    29. Tan, P; Briner, J; Boltshauser, E; Davis, MR; Wilton, SD; North, K; Wallgren-Pettersson, C; Laing, NG
      Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

      NEUROMUSCULAR DISORDERS
    30. Espinasse-Holder, M; Vanderbecken, S; Cartigny, M; Stuckens, C; Weill, J
      Type Ib pseudohypoaldosteronism: clinical and nosological aspects. Three new cases.

      ARCHIVES DE PEDIATRIE
    31. Banwell, BL; Becker, LE; Jay, V; Taylor, GP; Vajsar, J
      Cardiac manifestations of congenital fiber-type disproportion myopathy

      JOURNAL OF CHILD NEUROLOGY
    32. Goebel, HH
      Congenital myopathies: The current status

      JOURNAL OF CHILD NEUROLOGY
    33. Kolmerer, B; Witt, CC; Freiburg, A; Millevoi, S; Stier, G; Sorimachi, H; Pelin, K; Carrier, L; Schwartz, K; Labeit, D; Gregorio, CC; Linke, WA; Labeit, S
      The titin cDNA sequence and partial genomic sequences: Insights into the molecular genetics, cell biology and physiology of the titin filament system

      REVIEWS OF PHYSIOLOGY BIOCHEMISTRY AND PHARMACOLOGY, VOL 138
    34. Eger, K; Bretschneider, F; Zierz, S; Lehmann-Horn, F
      Muscle diseases - New developments

      AKTUELLE NEUROLOGIE
    35. Laing, NG; Mastaglia, FL
      Inherited skeletal muscle disorders

      ANNALS OF HUMAN BIOLOGY
    36. Barohn, RJ; Amato, AA
      Distal myopathies

      SEMINARS IN NEUROLOGY
    37. Lomen-Hoerth, C; Simmons, ML; DeArmond, SJ; Layzer, RB
      Adult-onset nemaline myopathy: Another cause of dropped head

      MUSCLE & NERVE
    38. Banwell, BL; Russel, J; Fukudome, T; Shen, XM; Stilling, G; Engel, AG
      Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    39. Jung, M; Poepping, I; Perrot, A; Ellmer, AE; Wienker, TF; Dietz, R; Reis, A; Osterziel, KJ
      Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22

      AMERICAN JOURNAL OF HUMAN GENETICS
    40. Nicolao, P; Xiang, FQ; Gunnarsson, LG; Giometto, B; Edstrom, L; Anvret, M; Zhang, ZP
      Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q

      AMERICAN JOURNAL OF HUMAN GENETICS
    41. Imoto, C; Kimura, S; Kawai, M; Nonaka, I
      Nebulin is normally expressed in nemaline myopathy

      ACTA NEUROPATHOLOGICA
    42. Furuoka, H; Murakami, A; Doi, T; Kobayashi, Y; Matsui, T; Nakamura, N
      Immunohistochemical and electron microscopical studies of myocardial inclusions in hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle

      ACTA NEUROPATHOLOGICA
    43. VARDON D; CHAU C; SIGODI S; FIGARELLABRANGER D; BOUBLI L
      CONGENITAL RAPIDLY FATAL FORM OF NEMALINE MYOPATHY WITH FETAL HYDROPSAND ARTHROGRYPOSIS - A CASE-REPORT AND REVIEW

      Fetal diagnosis and therapy
    44. SEWRY CA
      THE ROLE OF IMMUNOCYTOCHEMISTRY IN CONGENITAL MYOPATHIES

      Neuromuscular disorders
    45. WALLGRENPETTERSSON C
      GENETICS OF THE NEMALINE MYOPATHIES AND THE MYOTUBULAR MYOPATHIES

      Neuromuscular disorders
    46. 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
    47. WALLGRENPETTERSSON C; BEGGS AH; LAING NG
      51ST ENMC INTERNATIONAL WORKSHOP - NENLALINE MYOPATHY 13-15 JUNE 1997, NAARDEN, THE NETHERLANDS

      Neuromuscular disorders
    48. Fyrberg, C; Ketchum, A; Ball, E; Fyrberg, E
      Characterization of lethal Drosophila melanogaster alpha-actinin mutants

      BIOCHEMICAL GENETICS
    49. WRIGHT RA; PLANT GT; LANDON DN; MORGANHUGHES JA
      NEMALINE MYOPATHY - AN UNUSUAL CAUSE OF OPHTHALMOPARESIS

      Journal of neuro-ophthalmology
    50. 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
    51. GOEBEL HH; ANDERSON JR; HUBNER C; OEXLE K; WARLO I
      CONGENITAL MYOPATHY WITH EXCESS OF THIN MYOFILAMENTS

      Neuromuscular disorders
    52. GOEBEL HH; WARLO I
      NEMALINE MYOPATHY WITH INTRANUCLEAR RODS - INTRANUCLEAR ROD MYOPATHY

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

      Journal of child neurology
    54. LAMMENS M; MOERMAN P; FRYNS JP; LEMMENS F; VANDEKAMP GM; GOEMANS N; DOM R
      FETAL AKINESIA SEQUENCE CAUSED BY NEMALINE MYOPATHY

      Neuropediatrics
    55. DARRAS BT
      NEUROMUSCULAR DISORDERS IN THE NEWBORN

      Clinics in perinatology
    56. 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
    57. AKIYAMA C; NONAKA I
      A FOLLOW-UP-STUDY OF CONGENITAL NONPROGRESSIVE MYOPATHIES

      Brain & development
    58. WADA H; NISHIO H; KUGO M; WAKU S; IKEDA K; TAKADA S; MURAKAMI R; ITOH H; MATSUO M; NAKAMURA H
      SEVERE NEONATAL NEMALINE MYOPATHY WITH DELAYED MATURATION OF MUSCLE

      Brain & development
    59. VENDITTELLI F; MANCIETLABARCHEDE C; GILBERTDUSSARDIER B
      NEMALINE MYOPATHY IN THE NEONATE - 2 CASE-REPORTS

      European journal of pediatrics
    60. SPURR NK; BASHIR R; BUSHBY K; COX A; COX S; HILDEBRANDT F; HILL N; KAO FT; KROLS L; MARZELLA R; MILLER N; NOTHWANG HG; ROCCHI M; SARFARAZI M; STRATAKIS CA; WALLGRENPETTERSSON C; NAYLOR S
      REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-2 MAPPING 1996

      Cytogenetics and cell genetics
    61. PARMAR M; SCOTT RPF
      MIVACURIUM CHLORIDE AND LATE-ONSET CONGENITAL MYOPATHY

      British Journal of Anaesthesia
    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. WALLGRENPETTERSSON C; JASANI B; NEWMAN GR; MORRIS GE; JONES S; SINGHRAO S; CLARKE A; VIRTANEN I; HOLMBERG C; RAPOLA J
      ALPHA-ACTININ IN NEMALINE BODIES IN CONGENITAL NEMALINE MYOPATHY - IMMUNOLOGICAL CONFIRMATION BY LIGHT AND ELECTRON-MICROSCOPY

      Neuromuscular disorders
    64. BERGMANN M; KAMARAMPAKA M; KUCHELMEISTER K; KLEIN H; KOCH H
      NEMALINE MYOPATHY - 2 AUTOPSY REPORTS

      Child's nervous system
    65. GHERARDI R; CHARIOT P; AUTHIER FJ
      MUSCULAR INVOLVEMENT IN HIV-INFECTION

      Revue neurologique
    66. VANDERVEN PFM; JAP PHK; TERLAAK HJ; NONAKA I; BARTH PG; SENGERS RCA; STADHOUDERS AM; RAMAEKERS FCS
      IMMUNOPHENOTYPING OF CONGENITAL MYOPATHIES - DISORGANIZATION OF SARCOMERIC, CYTOSKELETAL AND EXTRACELLULAR-MATRIX PROTEINS

      Journal of the neurological sciences
    67. WALLGRENPETTERSSON C; HIILESMAA VK; PAATERO H
      PREGNANCY AND DELIVERY IN CONGENITAL NEMALINE MYOPATHY

      Acta obstetricia et gynecologica Scandinavica
    68. BAROHN RJ; JACKSON CE; KAGANHALLET KS
      NEONATAL NEMALINE MYOPATHY WITH ABUNDANT INTRANUCLEAR RODS

      Neuromuscular disorders
    69. TOPALOGLU H; GOGUS S; YALAZ K; KUCUKALI T; SERDAROGLU A
      2 SIBLINGS WITH NEMALINE MYOPATHY PRESENTING WITH RIGID-SPINE-SYNDROME

      Neuromuscular disorders
    70. LACSON AG; SESHIA SS; SARNAT HB; ANDERSON J; DEGROOT WR; CHUDLEY A; ADAMS C; DARWISH HZ; LOWRY RB; KUHN S; LOWRY NJ; ANG LC; GIBBINGS E; TREVENEN CL; JOHNSON ES; HOOGSTRATEN J
      AUTOSOMAL RECESSIVE, FATAL INFANTILE HYPERTONIC MUSCULAR-DYSTROPHY AMONG CANADIAN NATIVES

      Canadian journal of neurological sciences
    71. GHERARDI RK
      SKELETAL-MUSCLE INVOLVEMENT IN HIV-INFECTED PATIENTS

      Neuropathology and applied neurobiology
    72. LYNN DJ; WODA RP; MENDELL JR
      RESPIRATORY DYSFUNCTION IN MUSCULAR-DYSTROPHY AND OTHER MYOPATHIES

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

      Ultrastructural pathology
    74. BODENSTEINER JB
      CONGENITAL MYOPATHIES

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

      Muscle & nerve
    76. BUONOCORE G; BALESTRI P; TOTI P; BAGNOLI F
      A NEW CASE OF SEVERE CONGENITAL NEMALINE MYOPATHY

      Acta paediatrica
    77. PALMUCCI L; DORIGUZZI C; MONGINI T; CHIADOPIAT L
      ADULT-ONSET NEMALINE MYOPATHY - A DISTINCT NOSOLOGIC ENTITY

      Clinical neuropathology


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Documento generato il 05/08/20 alle ore 03:48:32