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La ricerca find articoli where authors phrase all words ' Figlewicz, DA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 44 riferimenti
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    1. Hadano, S; Hand, CK; Osuga, H; Yanagisawa, Y; Otomo, A; Devon, RS; Miyamoto, N; Showguchi-Miyata, J; Okada, Y; Singaraja, R; Figlewicz, DA; Kwiatkowski, T; Hosler, BA; Sagie, T; Skaug, J; Nasir, J; Brown, RH; Scherer, SW; Rouleau, GA; Hayden, MR; Ikeda, JE
      A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (vol 29, pg 166, 2001)

      NATURE GENETICS
    2. Hadano, S; Hand, CK; Osuga, H; Yanagisawa, Y; Otomo, A; Devon, RS; Miyamoto, N; Showguchi-Miyata, J; Okada, Y; Singaraja, R; Figlewicz, DA; Kwiatkowski, T; Hosler, BA; Sagie, T; Skaug, J; Nasir, J; Brown, RH; Scherer, SW; Rouleau, GA; Hayden, MR; Ikeda, JE
      A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

      NATURE GENETICS
    3. Doroudchi, MM; Minotti, S; Figlewicz, DA; Durham, HD
      Nitrotyrosination contributes minimally to toxicity of mutant SOD1 associated with ALS

      NEUROREPORT
    4. Williams, RE; Cookson, MR; Fray, AE; Manning, PM; Menzies, FM; Figlewicz, DA; Shaw, PJ
      Cultured glial cells are resistant to the effects of motor neurone disease-associated SOD1 mutations

      NEUROSCIENCE LETTERS
    5. Orrell, RW; Figlewicz, DA
      Clinical implications of the genetics of ALS and other motor neuron diseases

      NEUROLOGY
    6. Ingram, JL; Stodgell, CJ; Hyman, SL; Figlewicz, DA; Weitkamp, LR; Rodier, PM
      Discovery of allelic variants of HOXA1 and HOXB1: Genetic susceptibility to autism spectrum disorders

      TERATOLOGY
    7. Mohajeri, MH; Figlewicz, DA; Bohn, MC
      Intramuscular grafts of myoblasts genetically modified to secrete glial cell line-derived neurotrophic factor prevent motoneuron loss and disease progression in a mouse model of familial amyotrophic lateral sclerosis

      HUMAN GENE THERAPY
    8. Figlewicz, DA; Bird, TD
      "Pure" hereditary spastic paraplegias - The story becomes complicated

      NEUROLOGY
    9. Orrell, RW; Tawil, R; Forrester, J; Kissel, JT; Mendell, JR; Figlewicz, DA
      Definitive molecular diagnosis of facioscapulohumeral dystrophy

      NEUROLOGY
    10. Mithal, NP; Radunovic, A; Figlewicz, DA; McMillan, TJ; Leigh, PN
      Cells from individuals with SOD-1 associated familial amyotrophic lateral sclerosis do not have an increased susceptibility to radiation-induced freeradical production or DNA damage

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    11. Bruening, W; Roy, J; Giasson, B; Figlewicz, DA; Mushynski, WE; Durham, HD
      Up-regulation of protein chaperones preserves viability of cells expressing toxic Cu/Zn-superoxide dismutase mutants associated with amyotrophic lateral sclerosis

      JOURNAL OF NEUROCHEMISTRY
    12. ROY J; MINOTTI S; DONG L; FIGLEWICZ DA; DURHAM HD
      MECHANISM OF MOTOR-NEURON VULNERABILITY IN AMYOTROPHIC-LATERAL-SCLEROSIS - GLUTAMATE POTENTIATES THE TOXICITY OF MUTANT SUPEROXIDE DISMUTASE-1 IN MOTOR-NEURONS BY POSTSYNAPTIC CALCIUM-DEPENDENT MECHANISMS

      Annals of neurology
    13. TAWIL R; FIGLEWICZ DA; GRIGGS RC; WEIFFENBACH B
      FACIOSCAPULOHUMERAL DYSTROPHY - A DISTINCT REGIONAL MYOPATHY WITH A NOVEL MOLECULAR PATHOGENESIS

      Annals of neurology
    14. ROY J; MINOTTI S; DONG LC; FIGLEWICZ DA; DURHAM HD
      GLUTAMATE POTENTIATES THE TOXICITY OF MUTANT CU ZN-SUPEROXIDE DISMUTASE IN MOTOR-NEURONS BY POSTSYNAPTIC CALCIUM-DEPENDENT MECHANISMS/

      The Journal of neuroscience
    15. HARAVUORI H; MAKELABENGS P; FIGLEWICZ DA; UDD B; SOMER H; GRIGGS RC; PELTONEN L
      TIBIAL MUSCULAR-DYSTROPHY AND LATE-ONSET DISTAL MYOPATHY ARE LINKED TO THE SAME LOCUS ON CHROMOSOME 2Q

      Neurology
    16. MOHAJERI MH; CHANG YN; CHIANG YL; FIGLEWICZ DA; BOHN MC
      MYOBLAST-MEDIATED EX-VIVO GDNF GENE-THERAPY IN A MOUSE MODEL OF AMYOTROPHIC-LATERAL-SCLEROSIS (ALS)

      Experimental neurology
    17. MOHAJERI MH; FIGLEWICZ DA; BOHN MC
      SELECTIVE LOSS OF ALPHA-MOTONEURONS INNERVATING THE MEDIAL GASTROCNEMIUS-MUSCLE IN A MOUSE MODEL OF AMYOTROPHIC-LATERAL-SCLEROSIS

      Experimental neurology
    18. ORRELL RW; FORRESTER JD; TAWIL R; KISSEL JT; MENDELL JR; FIGLEWICZ DA; GRIGGS RC
      APPLICATION OF DEFINITIVE MOLECULAR DIAGNOSTIC-CRITERIA IN FACIOSCAPULOHUMERAL DYSTROPHY - CLINICAL IMPLICATIONS OF POSITION EFFECT VARIEGATION

      Annals of neurology
    19. PARBOOSINGH JS; FIGLEWICZ DA; KRIZUS A; MEININGER V; AZAD NA; NEWMAN DS; ROULEAU GA
      SPINOBULBAR MUSCULAR-ATROPHY CAN MIMIC ALS - THE IMPORTANCE OF GENETIC TESTING IN MALE-PATIENTS WITH ATYPICAL ALS

      Neurology
    20. DURHAM HD; ROY J; DONG L; FIGLEWICZ DA
      AGGREGATION OF MUTANT CU ZN SUPEROXIDE-DISMUTASE PROTEINS IN A CULTURE MODEL OF ALS/

      Journal of neuropathology and experimental neurology
    21. DUBE MP; BOUTROS M; FIGLEWICZ DA; ROULEAU GA
      A NEW PURE HEREDITARY SPASTIC PARAPLEGIA KINDRED MAPS TO THE PROTEOLIPID PROTEIN GENE LOCUS

      American journal of human genetics
    22. DUBE MP; MLODZIENSKI MA; KIBAR Z; FARLOW MR; EBERS G; HARPER P; KOLODNY EH; ROULEAU GA; FIGLEWICZ DA
      HEREDITARY SPASTIC PARAPLEGIA - LOD-SCORE CONSIDERATIONS FOR CONFIRMATION OF LINKAGE IN A HETEROGENEOUS TRAIT

      American journal of human genetics
    23. FINK JK; HEIMANPATTERSON T; BIRD T; CAMBI F; DUBE MP; FIGLEWICZ DA; FINK JK; HAINES JL; HEIMANPATTERSON T; HENTATI A; PERICAKVANCE MA; RASKIND W; ROULEAU GA; SIDDIQUE T
      HEREDITARY SPASTIC PARAPLEGIA - ADVANCES IN GENETIC RESEARCH

      Neurology
    24. ROOKE K; FIGLEWICZ DA; HAN FY; ROULEAU GA
      ANALYSIS OF THE KSP REPEAT OF THE NEUROFILAMENT HEAVY SUBUNIT IN FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS

      Neurology
    25. RUBIO A; STEINBERG K; FIGLEWICZ DA; MACDONALD ME; GREENAMYRE T; HAMILL R; SHOULSON I; POWERS JM
      COEXISTENCE OF HUNTINGTONS-DISEASE AND FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS - CASE PRESENTATION

      Acta Neuropathologica
    26. PARBOOSINGH JS; ROULEAU GA; MENINGER V; MCKENNAYASEK D; BROWN RH; FIGLEWICZ DA
      ABSENCE OF MUTATIONS IN THE MN SUPEROXIDE-DISMUTASE OR CATALASE GENESIN FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS

      Neuromuscular disorders
    27. DURHAM HP; OBRIEN C; NALBANTOGLU J; FIGLEWICZ DA
      USE OF TISSUE-CULTURE MODELS TO STUDY ENVIRONMENTAL-GENETIC INTERACTIONS RELEVANT TO NEURODEGENERATIVE DISEASES

      Clinical and experimental pharmacology and physiology
    28. GAROFALO O; FIGLEWICZ DA; THOMAS SM; BUTLER R; LEBUIS L; ROULEAU G; MEININGER V; LEIGHT PN
      SUPEROXIDE-DISMUTASE ACTIVITY IN LYMPHOBLASTOID-CELLS FROM MOTOR-NEURON DISEASE AMYOTROPHIC-LATERAL-SCLEROSIS (MND ALS) PATIENTS/

      Journal of the neurological sciences
    29. DUBE MP; ROULEAU GA; KIBAR Z; FARLOW MR; EBERS G; HARPER P; KOLODNY EH; BAUMBACH L; FIGLEWICZ DA
      AUTOSOMAL-DOMINANT HEREDITARY SPASTIC PARAPLEGIA - LINKAGE ANALYSIS OF A HETEROGENEOUS TRAIT

      American journal of human genetics
    30. FIGLEWICZ DA; FORRESTER J; MCDERMOTT MP; MENDELL JR; KISSEL J; GRIGGS RC; TAWIL R
      ANALYSIS OF GENOTYPE-PHENOTYPE CORRELATION IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)

      American journal of human genetics
    31. PRAMATAROVA A; FIGLEWICZ DA; KRIZUS A; HAN FY; CEBALLOSPICOT I; NICOLE A; DIB M; MEININGER V; BROWN RH; ROULEAU GA
      IDENTIFICATION OF NEW MUTATIONS IN THE CU ZN SUPEROXIDE-DISMUTASE GENE OF PATIENTS WITH FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS/

      American journal of human genetics
    32. HENTATI A; BEJAOUI K; PERICAKVANCE MA; HENTATI F; SPEER MC; HUNG WY; FIGLEWICZ DA; HAINES J; RIMMLER J; BENHAMIDA C; BENHAMIDA M; BROWN RH; SIDDIQUE T
      LINKAGE OF RECESSIVE FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS TO CHROMOSOME 2Q33-Q35

      Nature genetics
    33. PRAMATAROVA A; GOTO J; NANBA E; NAKASHIMA K; TAKAHASHI K; TAKAGI A; KANAZAWA I; FIGLEWICZ DA; ROULEAU GA
      A 2-BASEPAIR DELETION IN THE SOD-1 GENE CAUSES FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS

      Human molecular genetics
    34. FIGLEWICZ DA; KRIZUS A; MARTINOLI MG; MEININGER V; DIB M; ROULEAU GA; JULIEN JP
      VARIANTS OF THE HEAVY NEUROFILAMENT SUBUNIT ARE ASSOCIATED WITH THE DEVELOPMENT OF AMYOTROPHIC-LATERAL-SCLEROSIS

      Human molecular genetics
    35. FIGLEWICZ DA; GARRUTO RM; KRIZUS A; YANAGIHARA R; ROULEAU GA
      THE CU ZN SUPEROXIDE-DISMUTASE GENE IN ALS AND PARKINSONISM-DEMENTIA OF GUAM/

      NeuroReport
    36. FIGLEWICZ DA; MCINNIS MG; GOTO J; HAINES JL; WARREN AC; KRIZUS A; KHODR N; BROWN RH; MCKENNAYASEK D; ANTONARAKIS SE; ROULEAU GA
      IDENTIFICATION OF FLANKING MARKERS FOR THE FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS GENE ALS1 ON CHROMOSOME-21

      Journal of the neurological sciences
    37. GOTO J; GNIRKE A; KHODR N; KAUFER E; KRIZUS A; FIGLEWICZ DA; ROULEAU GA
      DINUCLEOTIDE REPEAT POLYMORPHISM AT THE D21S370 LOCUS WHICH FLANKS THE PRGS (GARS)-PAIS (AIRS)-PGFT (GART) GENE

      Human molecular genetics
    38. FIGLEWICZ DA; DELATTRE O; GUELLAEN G; KRIZUS A; THOMAS G; ZUCMAN J; ROULEAU GA
      MAPPING OF HUMAN GAMMA-GLUTAMYL-TRANSPEPTIDASE GENES ON CHROMOSOME-22AND OTHER HUMAN AUTOSOMES

      Genomics
    39. FIGLEWICZ DA; ROULEAU GA; KRIZUS A; JULIEN JP
      POLYMORPHISM IN THE MULTI-PHOSPHORYLATION DOMAIN OF THE HUMAN NEUROFILAMENT HEAVY-SUBUNIT-ENCODING GENE

      Gene
    40. COCHIUS JI; FIGLEWICZ DA; KALVIAINEN R; NOUSIAINEN U; FARRELL K; PATRY G; SODERFELDT B; FRYDMAN M; LERMAN P; ANDERMANN F; ANDERMANN E; ROULEAU GA
      UNVERRICHT-LUNDBORG DISEASE - ABSENCE OF NONALLELIC GENETIC-HETEROGENEITY

      Annals of neurology
    41. HENTATI A; BEJAOUI K; PERICAKVANCE MA; HENTAT F; YENHUNG W; FIGLEWICZ DA; BENHAMIDA C; BENHAMIDA M; BROWN RH; SIDDIQUE T
      THE GENE LOCUS FOR ONE FORM OF JUVENILE AMYOTROPHIC-LATERAL-SCLEROSISMAPS TO CHROMOSOME 2Q33-Q35

      Cytogenetics and cell genetics
    42. ROULEAU G; GOTO J; MCINNIS MG; WARREN AC; ANTONARAKIS SE; KRIZUS A; KHODR N; HAINES JL; BROWN RH; FIGLEWICZ DA
      LOCI D21S213 AND D21S219 BRACKET THE FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS (FALS) GENE ON CHROMOSOME-21

      Neurology
    43. PRAMATAROVA A; PARBOOSINGH J; KRIZUS A; MEININGER V; FIGLEWICZ DA; ROULEAU GA
      ROLE OF SUPEROXIDE-DISMUTASE, CATALASE, AND GLUTATHIONE-PEROXIDASE GENES IN THE DEVELOPMENT OF NEURODEGENERATIVE DISORDERS

      American journal of human genetics
    44. FIGLEWICZ DA; JULIEN JP; KRIZUS A; MEININGER V; ROULEAU GA
      CHARACTERIZATION OF POLYMORPHISM AND MUTATIONS IN THE MULTI-PHOSPHORYLATION DOMAIN OF THE HUMAN HEAVY NEUROFILAMENT SUBUNIT-ENCODING GENE

      American journal of human genetics


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Documento generato il 25/05/20 alle ore 04:50:07