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    1. Vestergaard, P; Glerup, H; Steffensen, BF; Rejnmark, L; Rahbek, J; Mosekilde, L
      Fracture risk in patients with muscular dystrophy and spinal muscular atrophy

      JOURNAL OF REHABILITATION MEDICINE
    2. Winder, SJ
      The complexities of dystroglycan

      TRENDS IN BIOCHEMICAL SCIENCES
    3. Bastianutto, C; Bestard, JA; Lahnakoski, K; Broere, D; De Visser, M; Zaccolo, M; Pozzan, T; Ferlini, A; Muntoni, F; Patarnello, T
      Dystrophin muscle enhancer 1 is implicated in the activation of non-muscleisoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy

      HUMAN MOLECULAR GENETICS
    4. Ogawa, M; Kaname, T; Kimura, S; Kawasaki, I; Nomura, K; Suzuki, M; Miike, T; Yamamura, K
      The lacZ gene under the control of the 7 kb of human dystrophin muscle specific promoter is expressed in cardiac muscle but not in adult skeletal muscle in transgenic mice

      NEUROMUSCULAR DISORDERS
    5. Fajkusova, L; Lukas, Z; Tvrdikova, M; Kuhrova, V; Hajek, J; Fajkus, J
      Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

      NEUROMUSCULAR DISORDERS
    6. Grain, L; Cortina-Borja, M; Forfar, C; Hilton-Jones, D; Hopkin, J; Burch, M
      Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenneand Becker muscular dystrophies and controls

      NEUROMUSCULAR DISORDERS
    7. Uotani, H; Hirokawa, S; Saito, F; Tauchi, K; Shimoda, M; Ishizawa, S; Kawaguchi, M; Nomura, K; Kanegane, H; Tsukada, K
      Non-Hodgkin's lymphoma of the ascending colon in a patient with becker muscular dystrophy: Report of a case

      SURGERY TODAY
    8. Kaminaga, T; Matsumura, K; Hatanaka, H; Shimizu, T
      Abnormality of the myocardial sympathetic nervous system in a patient withbecker muscular dystrophy detected with iodine-123 metaiodobenzylguanidinescintigraphy

      CLINICAL NUCLEAR MEDICINE
    9. Sironi, M; Pozzoli, U; Cagliani, R; Comi, GP; Bardoni, A; Bresolin, N
      Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

      HUMAN GENETICS
    10. Werneck, LC; Scola, RH; Maegawa, GHB; Werneck, MCM
      Comparative analysis of PCR-deletion detection and immunohistochemistry inBrazilian Duchenne and Becker muscular dystrophy patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. Vlay, SC; Vlay, LC; Coyle, PK
      Combined cardiomyopathy and skeletal myopathy: A variant with atrial fibrillation and ventricular tachycardia

      PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
    12. Van Epps, HA; Yim, CM; Hurley, JB; Brockerhoff, SE
      Investigations of photoreceptor synaptic transmission and light adaptationin the zebrafish visual mutant nrc

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    13. Mendell, JR; Buzin, CH; Feng, J; Yan, J; Serrano, C; Sangani, DS; Wall, C; Prior, TW; Sommer, SS
      Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

      NEUROLOGY
    14. Vita, G; Di Leo, R; De Gregorio, C; Papalia, A; Rodolico, C; Coglitore, S; Messina, C
      Cardiovascular autonomic control in Becker muscular dystrophy

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    15. Sironi, M; Bardoni, A; Felisari, G; Cagliani, R; Robotti, M; Comi, GP; Moggio, M; Bresolin, N
      Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    16. Marshall, P; Chartrand, N; Worton, RG
      The mouse dystrophin enhancer is regulated by MyoD, E-box-binding factors,and by the serum response factor

      JOURNAL OF BIOLOGICAL CHEMISTRY
    17. Hrdlicka, I; Zadina, J; Krejci, R; Srbova, A; Kucerova, M
      Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries)

      FOLIA BIOLOGICA
    18. Keep, NH
      Structural comparison of actin binding in utrophin and dystrophin

      NEUROLOGICAL SCIENCES
    19. Ebihara, S; Guibinga, GH; Gilbert, R; Nalbantoglu, J; Massie, B; Karpati, G; Petrof, BJ
      Differential effects of dystrophin and utrophin gene transfer in immunocompetent muscular dystrophy (mdx) mice

      PHYSIOLOGICAL GENOMICS
    20. Ligon, AH; Kashork, CD; Richards, CS; Shaffer, LG
      Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach

      EUROPEAN JOURNAL OF HUMAN GENETICS
    21. Jin, H; Gardner, RJ; Viswesvaraiah, R; Muntoni, F; Roberts, RG
      Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation

      EUROPEAN JOURNAL OF HUMAN GENETICS
    22. Ginjaar, IB; Kneppers, ALJ; von der Meulen, JDM; Anderson, LVB; Bremmer-Bout, M; van Deutekom, JCT; Weegenaar, J; den Dunnen, JT; Bakker, E
      Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

      EUROPEAN JOURNAL OF HUMAN GENETICS
    23. Calvo, F; Teijeira, S; Fernandez, JM; Teijeiro, A; Fernandez-Hojas, R; Fernandez-Lopez, XA; Martin, E; Navarro, C
      Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients

      NEUROMUSCULAR DISORDERS
    24. Rivier, F; Echenne, B; Chaix, Y; Robert, A; Delisle, MB; Calvas, P; Mornet, D
      Perturbation in dystrophin-associated glycoprotein complex in a boy with Becker muscular dystrophy

      BRAIN & DEVELOPMENT
    25. Schaefer, J; Reichmann, H
      The clinical benefit of genetic studies in neurology

      AKTUELLE NEUROLOGIE
    26. Bergmann, C; Senderek, J; Hermanns, B; Jauch, A; Janssen, D; Schroder, JM; Karch, D
      Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy

      MUSCLE & NERVE
    27. Becane, HM; Bonne, G; Varnous, S; Muchir, A; Ortega, V; Hammouda, E; Urtizberea, JA; Lavergne, T; Fardeau, M; Eymard, B; Weber, S; Schwartz, K; Duboc, D
      High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation

      PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
    28. Kleinsteuber, K; Rocco, P; Herrera, L; Vainzof, M; Birke, ME; Yanez, M; Flandes, A; Zatz, M; Carvallo, PD; Avaria, MD
      Post exercise myalgias as a form of dystrophynopathy. Case report.

      REVISTA MEDICA DE CHILE
    29. Felisari, G; Boneschi, FM; Bardoni, A; Sironi, M; Comi, GP; Robotti, M; Turconi, AC; Lai, M; Corrao, G; Bresolin, N
      Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

      NEUROLOGY
    30. Pramono, ZAD; Takeshima, Y; Surono, A; Ishida, T; Matsuo, M
      A novel cryptic exon in intron 2 of the human dystrophin gene evolved froman intron by acquiring consensus sequences for splicing at different stages of anthropoid evolution

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    31. Onengut, S; Kavaslar, GN; Battaloglu, E; Serdaroglu, P; Deymeer, F; Ozdemir, C; Calafell, F; Tolun, A
      Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians

      ANNALS OF HUMAN GENETICS
    32. Breucking, E; Reimnitz, P; Schara, U; Mortier, W
      Severe anaesthetic incidents in patients and families with Duchenne and Becker type muscular dystrophy

      ANAESTHESIST
    33. Wakayama, Y; Inoue, M; Kojima, H; Murahashi, M; Shibuya, S; Yamashita, S; Oniki, H
      Aciculin and its relation to dystrophin: immunocytochemical studies in human normal and Duchenne dystrophy quadriceps muscles

      ACTA NEUROPATHOLOGICA
    34. Tuffery-Giraud, S; Chambert, S; Demaille, J; Claustres, M
      Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects

      HUMAN MUTATION
    35. Herczegfalvi, A; Toth, G; Gyurus, P; Morava, E; Endreffy, E; Fodor, F; Mechler, F; Laszlo, A; Rasko, I; Melegh, B
      Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies

      NEUROMUSCULAR DISORDERS
    36. Hattori, N; Kaido, M; Nishigaki, T; Inui, K; Fujimura, H; Nishimura, T; Naka, T; Hazama, T
      Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy

      NEUROMUSCULAR DISORDERS
    37. Mestroni, L; Rocco, C; Gregori, D; Sinagra, G; Di Lenarda, A; Miocic, S; Vatta, M; Pinamonti, B; Muntoni, F; Caforio, ALP; McKenna, WJ; Falaschi, A; Giacca, M; Camerini, F
      Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity

      JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
    38. Talkop, UA; Klaassen, T; Piirsoo, A; Sander, V; Napa, A; Essenson, E; Tammur, J; Talvik, T
      Duchenne and Becker muscular dystrophies: an Estonian experience

      BRAIN & DEVELOPMENT
    39. Degl'Innocenti, D; Rosati, F; Iantomasi, T; Vincenzini, MT; Ramponi, G
      GSH system in relation to redox state in dystrophic skin fibroblasts

      BIOCHIMIE
    40. Vondran, S; Edelmann, J; Holland, H; Wolf, C; Strenge, S; Thamm, B; Thiele, H; Froster, UG
      Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: Prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene

      PRENATAL DIAGNOSIS
    41. Lunga, IN; Shishkin, SS; Shakhovskaya, NI; Gerasimova, NL; Zelinskaya, DI; Khodunova, AA; Shakhovsky, VA; Tarksh, MA; Krakhmaleva, IN
      The database of Russian families with hereditary neuromuscular disorders

      ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA
    42. Weilbach, FX; Kress, W; Strassburg, HM; Muller, CR; Gold, R
      Diagnostic approach to muscular dystrophies - recent developments and casereports

      NERVENARZT
    43. Liu, YG; Liu, H; Xie, BD
      Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using cDNA probes and the polymerase chain reaction method

      LIFE SCIENCES
    44. Yazaki, M; Yoshida, K; Nakamura, A; Koyama, J; Nanba, T; Ohori, N; Ikeda, S
      Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years

      EUROPEAN NEUROLOGY
    45. Siciliano, G; Tessa, A; Renna, M; Manca, ML; Mancuso, M; Murri, L
      Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation

      CLINICAL GENETICS
    46. Lodi, R; Kemp, GJ; Muntoni, F; Thompson, CH; Rae, C; Taylor, J; Styles, P; Taylor, DJ
      Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy - An in vivo P-31 magnetic resonance spectroscopy study

      BRAIN
    47. Higuchi, I; Niiyama, T; Uchida, Y; Inose, M; Nakagawa, M; Arimura, K; Osame, M
      Multiple episodes of thrombosis in a patient with Becker muscular dystrophy with marked expression of utrophin on the muscle cell membrane

      ACTA NEUROPATHOLOGICA
    48. Kim, UK; Cho, MS; Chae, JJ; Kim, SH; Hong, SS; Lee, SH; Yong, NK; Lee, CC
      Allelic frequencies of six (CA)n microsatellite markers of the dystrophin gene in the Korean population

      HUMAN HEREDITY
    49. WERTZ K; FUCHTBAUER EM
      DMD(MDX-BETA-GEO) - A NEW ALLELE FOR THE MOUSE DYSTROPHIN GENE

      Developmental dynamics
    50. HAYCOCK JW; MACNEIL S; MANTLE D
      DIFFERENTIAL PROTEIN OXIDATION IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY

      NeuroReport
    51. SHOJI T; NISHIKAWA Y; SAITO N; HAYASHI T; TOGAWA M; OKADA N; TSUBAKIHARA Y
      A CASE OF BECKER MUSCULAR-DYSTROPHY AND MASSIVE MYOGLOBINURIA WITH MINIMAL RENAL MANIFESTATIONS

      Nephrology, dialysis, transplantation
    52. CHEN B; NORTH PE; PARHAM DM
      IMPLICATIONS OF A COMMON POLYMORPHISM IN INTRON-12 OF THE DYSTROPHIN GENE FOR DELETION DETECTION BY MULTIPLEX PCR

      Gene
    53. BARANZINI SE; GILIBERTO F; HERRERA M; BERNATH V; BARREIRO C; ERRO MG; GRIPPO J; SZIJAN I
      DELETION PATTERNS IN ARGENTINE PATIENTS WITH DUCHENNE AND BECKER MUSCULAR-DYSTROPHY

      Neurological research
    54. ZATZ M; SUMITA D; CAMPIOTTO S; CANOVAS M; CERQUEIRA A; VAINZOF M; PASSOSBUENO MR
      PATERNAL INHERITANCE OR DIFFERENT MUTATIONS IN MATERNALLY RELATED PATIENTS OCCUR IN ABOUT 3-PERCENT OF DUCHENNE FAMILIAL CASES

      American journal of medical genetics
    55. SANTORO L; PASTORE L; RIPPA PG; ORSINI AVM; DELGIUDICE E; VITA G; FRISSO G; SALVATORE F
      DYSTROPHINOPATHY IN A YOUNG BOY WITH KLINEFELTERS-SYNDROME

      Muscle & nerve
    56. MINETTI C; CORDONE G; BELTRAME F; BADO N; BONILLA E
      DISORGANIZATION OF DYSTROPHIN COSTAMERIC LATTICE IN BECKER MUSCULAR-DYSTROPHY

      Muscle & nerve
    57. RIVIER F; TUFFERY S; JELLALI AJ; ECHENNE B; MORNET D; PONS F
      MOSAIC EXPRESSION OF 2 DYSTROPHINS IN A BOY WITH PROGRESSIVE MUSCULAR-DYSTROPHY

      Muscle & nerve
    58. CHAN A; GOLD R; ARP S; PFLUGHAUPT KW; TOYKA KV; REICHMANN H
      A STANDARDIZED BICYCLE ERGOMETER TEST IN THE DIAGNOSIS AND MONITORINGOF MITOCHONDRIAL MYOPATHIES

      Nervenarzt
    59. ZIETKIEWICZ E; YOTOVA V; JARNIK M; KORAHLASKOWSKA M; KIDD KK; MODIANO D; SCOZZARI R; STONEKING M; TISHKOFF S; BATZER M; LABUDA D
      GENETIC-STRUCTURE OF THE ANCESTRAL POPULATION OF MODERN HUMANS

      Journal of molecular evolution
    60. Stollberger, C; Finsterer, J; Keller, H; Mamoli, B; Slany, J
      Progression of cardiac involvement in patients with myotonic dystrophy, Becker's muscular dystrophy and mitochondrial myopathy during a 2-year follow-up

      CARDIOLOGY
    61. MUNTONI F; DILENARDA A; PORCU M; SINAGRA G; MATEDDU A; MARROSU G; FERLINI A; CAU M; MILASIN J; MELIS MA; MARROSU MG; CIANCHETTI C; SANNA A; FALASCHI A; CAMERINI F; GIACCA M; MESTRONI L
      DYSTROPHIN GENE ABNORMALITIES IN 2 PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY

      HEART
    62. ZIMOWSKI JG; BISKO MU; FIDZIANSKA EJ; FIDZIANSKA AZ; BADURSKA B; NIEBROJDOBOSZ I; KOZLOWSKA M; HAUSMANOWAPETRUSEWICZ I; ZAREMBA JS
      DETECTION OF DELETIONS WITHIN THE DYSTROPHIN GENE IN POLISH FAMILIES AFFECTED WITH DUCHENNE BECKER-MUSCULAR-DYSTROPHY/

      European journal of neurology
    63. TODOROVA A; DANIELI GA
      LARGE MAJORITY OF SINGLE-NUCLEOTIDE MUTATIONS ALONG THE DYSTROPHIN GENE CAN BE EXPLAINED BY MORE THAN ONE MECHANISM OF MUTAGENESIS

      Human mutation
    64. SITNIK R; CAMPIOTTO S; VAINZOF M; PAVANELLO RC; TAKATA RI; ZATZ M; PASSOSBUENO MR
      NOVEL POINT MUTATIONS IN THE DYSTROPHIN GENE

      Human mutation
    65. ROMERO NB; RECAN D; RIGAL O; LETURCQ F; LLENSE S; BARBOT JC; DEBURGRAVE N; CHEVAL MA; DENIAU F; KAPLAN JC
      A POINT MUTATION IN THE GLYCEROL KINASE GENE ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE IN A FAMILIAL X-LINKED MUSCULAR-DYSTROPHY - NONCONTIGUOUS GENE SYNDROME INVOLVING BECKER MUSCULAR-DYSTROPHY AND GLYCEROL KINASE LOCI

      Neuromuscular disorders
    66. DEYMEER F; SERDAROGLU P; PODA M; GULSENPARMAN Y; OZCELIK T; OZDEMIR C
      SEGMENTAL DISTRIBUTION OF MUSCLE WEAKNESS IN SMA-III - IMPLICATIONS FOR DETERIORATION IN MUSCLE STRENGTH WITH TIME

      Neuromuscular disorders
    67. GULLBERG D; VELLING T; SJOBERG G; SALMIVIRTA K; GAGGERO B; TIGER CF; EDSTROM L; SEJERSEN T
      TENASCIN-C EXPRESSION CORRELATES WITH MACROPHAGE INVASION IN DUCHENNEMUSCULAR-DYSTROPHY AND IN MYOSITIS

      Neuromuscular disorders
    68. NOBILE C; MARCHI J; NIGRO V; ROBERTS RG; DANIELI GA
      EXON-INTRON ORGANIZATION OF THE HUMAN DYSTROPHIN GENE

      Genomics
    69. ZEITOUN O; KETELSEN UP; WOLFF G; MULLER CR; KORINTHENBERG R
      RARE COMBINATION OF BECKER-MUSCULAR-DYSTROPHY AND KLINEFELTERS-SYNDROME IN ONE PATIENT

      Brain & development
    70. ISHIGAKI C; PATRIA SY; NISHIO H; YOSHIOKA A; MATSUO M
      EARLY CARDIAC-FAILURE IN A CHILD WITH BECKER MUSCULAR-DYSTROPHY IS DUE TO AN ABNORMALLY LOW AMOUNT OF DYSTROPHIN TRANSCRIPT LACKING EXON-13

      Acta Paediatrica Japonica Overseas Edition
    71. FINSTERER J; STOLLBERGER C; KOCHER K; MAMOLI B
      ECG ABNORMALITIES IN MYOPATHIES, CORONARY HEART-DISEASE AND CONTROLS

      Herz
    72. ROBINSON DO; BUNYAN DJ; GABB HA; TEMPLE IK; YAU SC
      A SMALL INTRAEXONIC DELETION WITHIN THE DYSTROPHIN GENE SUGGESTS A POSSIBLE MECHANISM OF MUTAGENESIS

      Human genetics
    73. HOOGERWAARD EM; DEVOOGT WG; WILDE AAM; VANDERWOUW PA; BAKKER E; VANOMMEN GJB; DEVISSER M
      EVOLUTION OF CARDIAC ABNORMALITIES IN BECKER MUSCULAR-DYSTROPHY OVER A 13-YEAR PERIOD

      Journal of neurology
    74. DUCCESCHI V; NIGRO G; SARUBBI B; COMI LI; POLITANO L; PETRETTA VR; NARDI S; BRIGLIA N; SANTANGELO L; NIGRO G; IACONO A
      AUTONOMIC NERVOUS-SYSTEM IMBALANCE AND LEFT-VENTRICULAR SYSTOLIC DYSFUNCTION AS POTENTIAL CANDIDATES FOR ARRHYTHMOGENESIS IN BECKER-MUSCULAR-DYSTROPHY

      International journal of cardiology
    75. MANSI L; PACE L; POLITANO L; RAMBALDI PF; DIGREGORIO F; RAIA P; PETRETTA VR; NIGRO G
      LEFT-VENTRICULAR FUNCTION AND PERFUSION IN BECKERS MUSCULAR-DYSTROPHY

      The Journal of nuclear medicine
    76. MORRONE A; ZAMMARCHI E; SCACHERI PC; DONATI MA; HOOP RC; SERVIDEI S; GALLUZZI G; HOFFMAN EP
      ASYMPTOMATIC DYSTROPHINOPATHY

      American journal of medical genetics
    77. GIRLANDA P; QUARTARONE A; BUCETI R; SINICROPI S; MACAIONE V; SAAD FA; MESSINA L; DANIELI GA; FERRERI G; VITA G
      EXTRA-MUSCLE INVOLVEMENT IN DYSTROPHINOPATHIES - AN ELECTRORETINOGRAPHY AND EVOKED-POTENTIAL STUDY

      Journal of the neurological sciences
    78. CELIK A; ERASLAN S; GOKGOZ N; ILGIN H; BASARAN S; BOKESOY I; KAYSERILI H; APAK MY; KIRDAR B
      IDENTIFICATION OF THE PARENTAL ORIGIN OF POLYSOMY IN 2 49,XXXXY CASES

      Clinical genetics
    79. SURONO A; TAKESHIMA Y; WIBAWA T; PRAMONO ZAD; MATSUO M
      6 NOVEL TRANSCRIPTS THAT REMOVE A HUGE INTRON RANGING FROM 250 TO 800KB ARE PRODUCED BY ALTERNATIVE SPLICING OF THE 5'-REGION OF THE DYSTROPHIN GENE IN HUMAN SKELETAL-MUSCLE

      Biochemical and biophysical research communications
    80. BREMNER R; DU DC; CONNOLLYWILSON MJ; BRIDGE P; AHMAD KF; MOSTACHFI H; RUSHLOW D; DUNN JM; GALLIE BL
      DELETION OF RB EXON-24 AND EXON-25 CAUSES LOW-PENETRANCE RETINOBLASTOMA

      American journal of human genetics
    81. COOPER TA; MATTOX W
      THE REGULATION OF SPLICE-SITE SELECTION, AND ITS ROLE IN HUMAN-DISEASE

      American journal of human genetics
    82. FIGARELLABRANGER D; MACHADO AMB; PUTZU GA; MALZAC P; VOELCKEL MA; PELLISSIER JF
      EXERTIONAL RHABDOMYOLYSIS AND EXERCISE INTOLERANCE REVEALING DYSTROPHINOPATHIES

      Acta Neuropathologica
    83. ORTIZLOPEZ R; SCHULTZ KR; TOWBIN JA
      GENETIC-ASPECTS OF DILATED CARDIOMYOPATHY

      Progress in pediatric cardiology
    84. BABIERI AM; SORIANI N; FERLINI A; MICHELATO A; FERRARI M; CARRERA P
      7 NOVEL-ADDITIONAL SMALL MUTATIONS AND A NEW ALTERNATIVE SPLICING IN THE HUMAN DYSTROPHIN GENE DETECTED BY HETERODUPLEX ANALYSIS AND RESTRICTED RT-PCR HETERODUPLEX ANALYSIS OF ILLEGITIMATE TRANSCRIPTS

      European journal of human genetics
    85. MILASIN J; MUNTONI F; SEVERINI GM; BARTOLONI L; VATTA M; KRAJINOVIC M; MATEDDU A; ANGELINI C; CAMERINI F; FALASCHI A; MESTRONI L; GIACCA M; PINAMONTI B; SINAGRA G; DILENARDA A; SILVESTRI F; BUSSANI R; DAVANZO M
      A POINT MUTATION IN THE 5'-SPLICE-SITE OF THE DYSTROPHIN GENE FIRST INTRON RESPONSIBLE FOR X-LINKED DILATED CARDIOMYOPATHY

      Human molecular genetics
    86. QUINLIVAN RM; LEWIS P; MARSDEN P; DUNDAS R; ROBB SA; BAKER E; MAISEY M
      CARDIAC-FUNCTION, METABOLISM AND PERFUSION IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    87. ROEST PAM; VANDERTUIJN AC; GINJAAR HB; HOEBEN RC; HOGERVORST FBL; BAKKER E; DENDUNNEN JT; VANOMMEN GJB
      APPLICATION OF IN-VITRO MYO-DIFFERENTIATION OF NONMUSCLE CELLS TO ENHANCE GENE-EXPRESSION AND FACILITATE ANALYSIS OF MUSCLE PROTEINS

      Neuromuscular disorders
    88. SAMAHA FJ; QUINLAN JG
      MYALGIA AND CRAMPS - DYSTROPHINOPATHY WITH WIDE-RANGING LABORATORY FINDINGS

      Journal of child neurology
    89. DINCER P; TOPALOGLU H; AYTER S; OZGUC M; TASDEMIR HA; RENDA Y
      MOLECULAR DELETION PATTERNS IN TURKISH DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS

      Brain & development
    90. TORELLI S; MUNTONI F
      ALTERNATIVE SPLICING OF DYSTROPHIN EXON-4 IN NORMAL HUMAN MUSCLE

      Human genetics
    91. AZOFEIFA J; WALDHERR R; CREMER M
      X-CHROMOSOME METHYLATION RATIOS AS INDICATORS OF CHROMOSOMAL ACTIVITY- EVIDENCE OF INTRAINDIVIDUAL DIVERGENCES AMONG TISSUES OF DIFFERENT EMBRYONAL ORIGIN

      Human genetics
    92. HAMANO K; TAKEYA T; IWASAKI N; OKOSHI N; FUKUBAYASHI T; KIRINOKI M; YAO Y; HIRABAYASHI T; TAKITA H
      ANALYSIS OF DYSTROPHIN IN MUSCULAR DISEASES BY 2-DIMENSIONAL GEL-ELECTROPHORESIS USING AGAROSE GELS IN THE FIRST DIMENSION

      Acta neurologica belgica
    93. RAYNAUD M; GENDROT C; DESSAY B; MONCLA A; AYRAULT AD; MOIZARD MP; TOUTAIN A; BRIAULT S; VILLARD L; RONCE N; MORAINE C
      X-LINKED MENTAL-RETARDATION WITH NEONATAL HYPOTONIA IN A FRENCH FAMILY (MRX15) - GENE ASSIGNMENT TO XP11.22-XP21.1

      American journal of medical genetics
    94. FANIN M; FREDA MP; VITIELLO L; DANIELI GA; PEGORARO E; ANGELINI C
      DUCHENNE PHENOTYPE WITH IN-FRAME DELETION REMOVING MAJOR PORTION OF DYSTROPHIN ROD - THRESHOLD EFFECT FOR DELETION SIZE

      Muscle & nerve
    95. FELICE KJ
      DISTAL WEAKNESS IN DYSTROPHIN-DEFICIENT MUSCULAR-DYSTROPHY

      Muscle & nerve
    96. TASDEMIR HA; CIL E; TOPALOGLU H; YALAZ K; AYSUN S; RENDA Y; OZME S
      CARDIORESPIRATORY FUNCTION IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY

      Turkish Journal of Pediatrics
    97. ISHIKAWA Y; ISHIKAWA Y; MINAMI R
      QUANTITATIVE ESTIMATION OF DYSTROPHIN PROTEIN - A SENSITIVE AND CONVENIENT 2-ANTIBODY SANDWICH ELISA

      Tohoku Journal of Experimental Medicine
    98. ISHIGAKI C; PATRIA SY; NISHIO H; YABE M; MATSUO M
      A JAPANESE BOY WITH MYALGIA AND CRAMPS HAS A NOVEL IN-FRAME DELETION OF THE DYSTROPHIN GENE

      Neurology
    99. MARBINI A; GEMIGNANI F; BELLANOVA MF; GUIDETTI D; FERRARI A
      IMMUNOHISTOCHEMICAL LOCALIZATION OF UTROPHIN AND OTHER CYTOSKELETAL PROTEINS IN SKIN SMOOTH-MUSCLE IN NEUROMUSCULAR DISEASES

      Journal of the neurological sciences
    100. ANGELINI C; FANIN M; FREDA MP; MARTINELLO F; MIORIN M; MELACINI P; SICILIANO G; PEGORARO E; ROSA M; DANIELI GA
      PROGNOSTIC FACTORS IN MILD DYSTROPHINOPATHIES

      Journal of the neurological sciences


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/08/20 alle ore 08:38:55