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    1. Dean, NL; Tan, SL; Ao, A
      The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application

      MOLECULAR HUMAN REPRODUCTION
    2. Martorell, L; Monckton, DG; Sanchez, A; de Munain, AL; Baiget, M
      Frequency and stability of the myotonic dystrophy type 1 premutation

      NEUROLOGY
    3. Meola, G
      Myotonic dystrophies

      CURRENT OPINION IN NEUROLOGY
    4. Sarkar, PS; Appukuttan, B; Han, J; Ito, Y; Ai, CW; Tsai, WL; Chai, Y; Stout, JT; Reddy, S
      Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

      NATURE GENETICS
    5. Zuhlke, C; Atici, J; Martorell, L; Gembruch, U; Kohl, M; Gopel, W; Schwinger, E
      Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy

      PRENATAL DIAGNOSIS
    6. Gonzalez, I; Ohsawa, N; Singer, RH; Devillers, M; Ashizawa, T; Balasubramanyam, A; Cooper, TA; Khajavi, M; Lia-Baldini, AS; Miller, G; Philips, AV; Timchenko, LT; Waring, J; Yamagata, H; Barbet, JP; Klesert, TR; Tapscott, SJ; Roses, AD; Wagner, M; Baiget, M; Martorell, L; Browne, GB; Eymard, B; Gourdon, G; Junien, C; Seznec, H; Carey, N; Gosling, M; Maire, P; Gennarelli, M; Sato, S; Ansved, T; Kvist, U; Eriksson, M; Furling, D; Chen, EJ; Housman, DE; Luciano, B; Siciliano, M; Spring, N; Shimizu, M; Eddy, E; Morris, GE; Krahe, R; Furuya, H; Adelman, J; Pribnow, D; Furutama, D; Mathieu, J; Hilton-Jones, D; Kinoshita, M; Abbruzzese, C; Sinden, RR; Wells, RD; Pearson, CE; Kobayashi, T; Johansson, A; Salvatori, S; Perryman, B; Swanson, MS; Gould, FK; Harris, SE; Johnson, K; Mitchell, AM; Monckton, DG; Winchester, CL; Antonini, G; Day, JW; Liquori, C; Ranum, LPW; Westerlaken, J; Wieringa, B; Griffith, JD; Michalowski, S; Moore, H; Hamshere, M; Korade, Z; Thornton, CA; Jaeger, H; Lehmann, F; Moorman, JR; Mounsey, JP; Mahadevan, MS
      New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1)

      NEUROLOGY
    7. Endo, A; Motonaga, K; Arahata, K; Harada, K; Yamada, T; Takashima, S
      Developmental expression of myotonic dystrophy protein kinase in brain andits relevance to clinical phenotype

      ACTA NEUROPATHOLOGICA
    8. Timchenko, LT; Caskey, CT
      Triplet repeat disorders: discussion of molecular mechanisms

      CELLULAR AND MOLECULAR LIFE SCIENCES
    9. Michalowski, S; Miller, JW; Urbinati, CR; Paliouras, M; Swanson, MS; Griffith, J
      Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein

      NUCLEIC ACIDS RESEARCH
    10. Timchenko, LT
      Myotonic dystrophy: The role of RNA CUG triplet repeats

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. IGARASHI H; MOMOI MY; YAMAGATA T; SHIRAISHI H; EGUCHI I
      HYPERTROPHIC CARDIOMYOPATHY IN CONGENITAL MYOTONIC-DYSTROPHY

      Pediatric neurology
    12. Medica, I; Logar, N; Batagelj, M; Peterlin, B
      Characteristics of myotonic dystrophy in Istria: Molecular genetics approach - Mutation analysis

      COLLEGIUM ANTROPOLOGICUM
    13. KORADEMIRNICS Z; BABITZKE P; HOFFMAN E
      MYOTONIC-DYSTROPHY - MOLECULAR WINDOWS ON A COMPLEX ETIOLOGY

      Nucleic acids research
    14. GEIFMANHOLTZMAN O; FAY K
      BRIEF CLINICAL REPORT - PRENATAL-DIAGNOSIS OF CONGENITAL MYOTONIC-DYSTROPHY AND COUNSELING OF THE PREGNANT MOTHER - CASE-REPORT AND LITERATURE-REVIEW

      American journal of medical genetics
    15. Rudnik-Schoneborn, S; Nicholson, GA; Morgan, G; Rohrig, D; Zerres, K
      Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Illarioshkin, SN; Ivanova-Smolenskaya, IA
      Molecular basis of progressing muscular dystrophias

      ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA
    17. MOXLEY RT
      MYOTONIC DISORDERS IN CHILDHOOD - DIAGNOSIS AND TREATMENT

      Journal of child neurology
    18. GORWOOD P; LEBOYER M; FALISSARD B; ROUILLON F; JAY M; FEINGOLD J
      FURTHER EPIDEMIOLOGIC EVIDENCE FOR ANTICIPATION IN SCHIZOPHRENIA

      Biomedicine & pharmacotherapy
    19. STRONG PN; BREWSTER BS
      MYOTONIC-DYSTROPHY - MOLECULAR AND CELLULAR CONSEQUENCES OF EXPANDED DNA REPEATS ARE ELUSIVE

      Journal of inherited metabolic disease
    20. STEYAERT J; UMANS S; WILLEKENS D; LEGIUS E; PIJKELS E; DEDIESMULDERS C; VANDENBERGHE H; FRYNS JP
      A STUDY OF THE COGNITIVE AND PSYCHOLOGICAL PROFILE IN 16 CHILDREN WITH CONGENITAL OR JUVENILE MYOTONIC-DYSTROPHY

      Clinical genetics
    21. JANSEN G; GROENEN PJTA; BACHNER D; JAP PHK; COERWINKEL M; OERLEMANS F; VANDENBROEK W; GOHLSCH B; PETTE D; PLOMP JJ; MOLENAAR PC; NEDERHOFF MGJ; VANECHTELD CJA; DEKKER M; BERNS A; HAMEISTER H; WIERINGA B
      ABNORMAL MYOTONIC-DYSTROPHY PROTEIN-KINASE LEVELS PRODUCE ONLY MILD MYOPATHY IN MICE

      Nature genetics
    22. REDDY S; SMITH DBJ; RICH MM; LEFEROVICH JM; REILLY P; DAVIS BM; TRAN K; RAYBURN H; BRONSON R; CROS D; BALICEGORDON RJ; HOUSMAN D
      MICE LACKING THE MYOTONIC-DYSTROPHY PROTEIN-KINASE DEVELOP A LATE-ONSET PROGRESSIVE MYOPATHY

      Nature genetics
    23. CASKEY CT; SWANSON MS; TIMCHENKO LT
      MYOTONIC-DYSTROPHY - DISCUSSION OF MOLECULAR MECHANISM

      Cold Spring Harbor Symposia on Quantitative Biology
    24. HARPER PS
      NEW GENES FOR OLD DISEASES - THE MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY AND HUNTINGTONS-DISEASE - THE LUMLEIAN-LECTURE 1995

      Journal of the Royal College of Physicians of London
    25. LONGSHORE JW; TARLETON J
      DYNAMIC MUTATIONS IN HUMAN GENES - A REVIEW OF TRINUCLEOTIDE REPEAT DISEASES

      Journal of Genetics
    26. WARING JD; HAQ R; TAMAI K; SABOURIN LA; IKEDA JE; KORNELUK RG
      INVESTIGATION OF MYOTONIC-DYSTROPHY KINASE ISOFORM TRANSLOCATION AND MEMBRANE ASSOCIATION

      The Journal of biological chemistry
    27. GORWOOD P; LEBOYER M; FALISSARD B; JAY M; ROUILLON F; FEINGOLD J
      ANTICIPATION IN SCHIZOPHRENIA - NEW LIGHT ON A CONTROVERSIAL PROBLEM

      The American journal of psychiatry
    28. JANSEN G; BACHNER D; COERWINKEL M; WORMSKAMP N; HAMEISTER H; WIERINGA B
      STRUCTURAL ORGANIZATION AND DEVELOPMENTAL EXPRESSION PATTERN OF THE MOUSE WD-REPEAT GENE DMR-N9 IMMEDIATELY UPSTREAM OF THE MYOTONIC-DYSTROPHY LOCUS

      Human molecular genetics
    29. MONCKTON DG; WONG LJC; ASHIZAWA T; CASKEY CT
      SOMATIC MOSAICISM, GERMLINE EXPANSIONS, GERMLINE REVERSIONS AND INTERGENERATIONAL REDUCTIONS IN MYOTONIC-DYSTROPHY MALES - SMALL POOL PCR ANALYSES

      Human molecular genetics
    30. LEEFLANG EP; ARNHEIM N
      A NOVEL REPEAT STRUCTURE AT THE MYOTONIC-DYSTROPHY LOCUS IN A 37 REPEAT ALLELE WITH UNEXPECTEDLY HIGH-STABILITY

      Human molecular genetics
    31. OHYA K; TACHI N; KON S; KIKUCHI K; CHIBA S
      SOMATIC-CELL HETEROGENEITY BETWEEN DNA EXTRACTED FROM LYMPHOCYTES ANDSKELETAL-MUSCLE IN CONGENITAL MYOTONIC-DYSTROPHY

      Japanese journal of human genetics
    32. HUMMERICH H; LEHRACH H
      TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN-DISEASE

      Electrophoresis
    33. ASHLEY CT; WARREN ST
      TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN-DISEASE

      Annual review of genetics
    34. DAMIAN MS; KOCH MC; BACHMANN G; SCHILLING G; FACH B; STOPPLER S; TRITTMACHER S; DORNDORF W
      MONOTONIC DYSTROPHY - MAGNETIC-RESONANCE- IMAGING AND CLINICAL-GENETIC CORRELATIONS

      Nervenarzt
    35. DEMUNAIN AL; COBO AM; POZA JJ; NAVARRETE D; MARTORELL L; PALAU F; EMPARANZA JI; BAIGET M
      INFLUENCE OF THE SEX OF THE TRANSMITTING GRANDPARENT IN CONGENITAL MYOTONIC-DYSTROPHY

      Journal of Medical Genetics
    36. POULTON J; HARLEY HG; DASMAHAPATRA J; BROWN GK; POTTER CG; SYKES B
      MITOCHONDRIAL-DNA DOES NOT APPEAR TO INFLUENCE THE CONGENITAL ONSET TYPE OF MYOTONIC-DYSTROPHY

      Journal of Medical Genetics
    37. KIDD A; TURNPENNY P; KELLY K; CLARK C; CHURCH W; HUTCHINSON C; DEAN JCS; HAITES NE
      ASCERTAINMENT OF MYOTONIC-DYSTROPHY THROUGH CATARACT BY SELECTIVE SCREENING

      Journal of Medical Genetics
    38. COBO AM; POZA JJ; MARTORELL L; DEMUNAIN AL; EMPARANZA JI; BAIGET M
      CONTRIBUTION OF MOLECULAR ANALYSES TO THE ESTIMATION OF THE RISK OF CONGENITAL MYOTONIC-DYSTROPHY

      Journal of Medical Genetics
    39. PASSOSBUENO MR; CERQUEIRA A; VAINZOF M; MARIE SK; ZATZ M
      MYOTONIC-DYSTROPHY - GENETIC, CLINICAL, AND MOLECULAR ANALYSIS OF PATIENTS FROM 41 BRAZILIAN FAMILIES

      Journal of Medical Genetics
    40. GRICE JE; JACKSON RV; HOCKINGS GI; TORPY DJ; WALTERS MM; CROSBIE GV
      ADRENOCORTICOTROPIN HYPERRESPONSE TO THE CORTICOTROPIN-RELEASING HORMONE-MEDIATED STIMULUS OF NALOXONE IN PATIENTS WITH MYOTONIC-DYSTROPHY

      The Journal of clinical endocrinology and metabolism
    41. MAEDA M; TAFT CS; BUSH EW; HOLDER E; BAILEY WM; NEVILLE H; PERRYMAN MB; BIES RD
      IDENTIFICATION, TISSUE-SPECIFIC EXPRESSION, AND SUBCELLULAR-LOCALIZATION OF THE 80-KDA AND 71-KDA FORMS OF MYOTONIC-DYSTROPHY KINASE PROTEIN

      The Journal of biological chemistry
    42. ILLARIOSHKIN SN; IVANOVASMOLENSKAYA IA; MARKOVA ED
      NOVEL MUTATIONAL MECHANISM IN MAN - EXPAN SION OF TRINUCLEOTIDE REPEATS

      Genetika
    43. BIRD AC
      RETINAL PHOTORECEPTOR DYSTROPHIES LL-EDWARD-JACKSON-MEMORIAL-LECTURE

      American journal of ophthalmology
    44. YAMAGATA H; MIKI T; YAMANAKA N; TAKEMOTO Y; KANDA F; TAKAHASHI K; INUI T; KINOSHITA M; NAKAGAWA M; HIGUCHI I; OSAME M; OGIHARA T
      CHARACTERISTICS OF DYNAMIC MUTATION IN JAPANESE MYOTONIC-DYSTROPHY

      Japanese journal of human genetics
    45. PLASSART E; FONTAINE B
      GENES WITH TRIPLET REPEATS - A NEW CLASS OF MUTATIONS CAUSING NEUROLOGICAL DISEASES

      Biomedicine & pharmacotherapy
    46. CARPENTER NJ
      GENETIC ANTICIPATION - EXPANDING TANDEM REPEATS

      Neurologic clinics
    47. RICKER K; KOCH MC; LEHMANNHORN F; PONGRATZ D; OTTO M; HEINE R; MOXLEY RT
      PROXIMAL MYOTONIC MYOPATHY - A NEW DOMINANT DISORDER WITH MYOTONIA, MUSCLE WEAKNESS, AND CATARACTS

      Neurology
    48. DEDIESMULDERS CEM; HOWELER CJ; MIRANDOLLE JF; BRUNNER HG; HOVERS V; BRUGGENWIRTH H; SMEETS HJM; GERAEDTS JPM
      ANTICIPATION RESULTING IN ELIMINATION OF THE MYOTONIC-DYSTROPHY GENE - A FOLLOW-UP-STUDY OF ONE EXTENDED FAMILY

      Journal of Medical Genetics
    49. BERGOFFEN J; KANT J; SLADKY J; MCDONALDMCGINN D; ZACKAI EH; FISCHBECK KH
      PATERNAL TRANSMISSION OF CONGENITAL MYOTONIC-DYSTROPHY

      Journal of Medical Genetics
    50. TROTTIER Y; BIANCALANA V; MANDEL JL
      INSTABILITY OF CAG REPEATS IN HUNTINGTONS-DISEASE - RELATION TO PARENTAL TRANSMISSION AND AGE-OF-ONSET

      Journal of Medical Genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/08/20 alle ore 23:47:14