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La ricerca find articoli where soggetti phrase all words 'LINKED SPASTIC PARAPLEGIA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 31 riferimenti
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    1. Cailloux, F; Gauthier-Barichard, F; Mimault, C; Isabelle, V; Courtois, V; Giraud, G; Dastugue, B; Boespflug-Tanguy, O
      Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations

      EUROPEAN JOURNAL OF HUMAN GENETICS
    2. Yool, DA; Edgar, JM; Montague, P; Malcolm, S
      The proteolipid protein gene and myelin disorders in man and animal models

      HUMAN MOLECULAR GENETICS
    3. Tamagaki, A; Shima, M; Tomita, R; Okumura, M; Shibata, M; Morichika, S; Kurahashi, H; Giddings, JC; Yoshioka, A; Yokobayashi, Y
      Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Leonard, JV; Schapira, AHV
      Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

      LANCET
    5. Baumgartner, BG; Deppe, A; Rettenberger, G; Leeb, T; Hameister, H; Brenig, B
      Molecular analysis of the porcine proteolipid protein (PLP) gene

      MAMMALIAN GENOME
    6. Inoue, K; Osaka, H; Imaizumi, K; Nezu, A; Takanashi, J; Arii, J; Murayama, K; Ono, J; Kikawa, Y; Mito, T; Shaffer, LG; Lupski, JR
      Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

      ANNALS OF NEUROLOGY
    7. Hodes, ME; Zimmerman, AW; Aydanian, A; Naidu, S; Miller, NR; Oller, JLG; Barker, B; Aleck, KA; Hurley, TD; Dlouhy, SR
      Different mutations in the same codon of the proteolipid protein gene, PLP, way help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. GRIFFITHS I; KLUGMAN M; ANDERSON T; THOMSON C; VOUYIOUKLIS D; NAVE KA
      CURRENT CONCEPTS OF PLP AND ITS ROLE IN THE NERVOUS-SYSTEM

      Microscopy research and technique
    9. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    10. SISTERMANS EA; DECOO RFM; DEWIJS IJ; VANOOST BA
      DUPLICATION OF THE PROTEOLIPID PROTEIN GENE IS THE MAJOR CAUSE OF PELIZAEUS-MERZBACHER-DISEASE

      Neurology
    11. JENSEN LN; GERSTENBERG T; KALLESTRUP EB; KOEFOED P; NORDLING J; NIELSEN JE
      URODYNAMIC EVALUATION OF PATIENTS WITH AUTOSOMAL-DOMINANT PURE SPASTIC PARAPLEGIA LINKED TO CHROMOSOME 2P21-P24

      Journal of Neurology, Neurosurgery and Psychiatry
    12. NIELSEN JE; KRABBE K; JENNUM P; KOEFOED P; JENSEN LN; FENGER K; EIBERG H; HASHOLT L; WERDELIN L; SORENSEN SA
      AUTOSOMAL-DOMINANT PURE SPASTIC PARAPLEGIA - A CLINICAL, PARACLINICAL, AND GENETIC-STUDY

      Journal of Neurology, Neurosurgery and Psychiatry
    13. ANDERSON TJ; SCHNEIDER A; BARRIE JA; KLUGMANN M; MCCULLOCH MC; KIRKHAM D; KYRIAKIDES E; NAVE KA; GRIFFITHS IR
      LATE-ONSET NEURODEGENERATION IN MICE WITH INCREASED DOSAGE OF THE PROTEOLIPID PROTEIN GENE

      Journal of comparative neurology
    14. WOODWARD K; KENDALL E; VETRIE D; MALCOLM S
      PELIZAEUS-MERZBACHER-DISEASE - IDENTIFICATION OF XQ22 PROTEOLIPID-PROTEIN DUPLICATIONS AND CHARACTERIZATION OF BREAKPOINTS BY INTERPHASE FISH

      American journal of human genetics
    15. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    16. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    17. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    18. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    19. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    20. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    21. GARBERN JY; CAMBI F; TANG XM; SIMA AAF; VALLAT JM; BOSCH EP; LEWIS R; SHY M; SOHI J; KRAFT G; CHEN KL; JOSHI I; LEONARD DGB; JOHNSON W; RASKIND W; DLOUHY SR; PRATT V; HODES ME; BIRD T; KAMHOLZ J
      PROTEOLIPID PROTEIN IS NECESSARY IN PERIPHERAL AS WELL AS CENTRAL MYELIN

      Neuron
    22. WOLFF RK
      POSITIONAL CLONING - A REVIEW AND PERSPECTIVE

      Drug development research
    23. BOND C; SI XL; CRISP M; WONG P; PAULSON GW; BOESEL CP; DLOUHY SR; HODES ME
      PELIZAEUS-MERZBACHER DISEASE X-LINKED SPASTIC PARAPLEGIA PROTEOLIPID PROTEIN NONSENSE MUTATION

      American journal of medical genetics
    24. HODES ME; BLANK CA; PRATT VM; MORALES J; NAPIER J; DLOUHY SR
      NONSENSE MUTATION IN EXON-3 OF THE PROTEOLIPID PROTEIN GENE (PLP) IN A FAMILY WITH AN UNUSUAL FORM OF PELIZAEUS-MERZBACHER-DISEASE

      American journal of medical genetics
    25. INOUE K; OSAKA H; KAWANISHI C; SUGIYAMA N; ISHII M; SUGITA K; YAMADA Y; KOSAKA K
      MUTATIONS IN THE PROTEOLIPID PROTEIN GENE IN JAPANESE FAMILIES WITH PELIZAEUS-MERZBACHER DISEASE

      Neurology

    26. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    27. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    28. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    29. KNAPP PE
      PROTEOLIPID PROTEIN - IS IT MORE THAN JUST A STRUCTURAL COMPONENT OF MYELIN

      Developmental neuroscience
    30. FLINT J; WILKIE AOM
      THE GENETICS OF MENTAL-RETARDATION

      British Medical Bulletin
    31. INOUE K; OSAKA H; SUGIYAMA N; KAWANISHI C; ONISHI H; NEZU A; KIMURA K; KIMURA S; YAMADA Y; KOSAKA K
      A DUPLICATED PLP GENE CAUSING PELIZAEUS-MERZBACHER DISEASE DETECTED BY COMPARATIVE MULTIPLEX PCR

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 22:41:53