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La ricerca find articoli where authors phrase all words ' ROMERO NB' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 16 riferimenti
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    1. Monnier, N; Romero, NB; Lerale, J; Landrieu, P; Nivoche, Y; Fardeau, M; Lunardi, J
      Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

      HUMAN MOLECULAR GENETICS
    2. Romero, NB; De Lonlay, P; Llense, S; Leturcq, F; Touati, G; Urtizberea, JA; Saudubray, JM; Munnich, A; Kaplan, JC; Recan, D
      Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene

      NEUROMUSCULAR DISORDERS
    3. Brockington, M; Blake, DJ; Prandini, P; Brown, SC; Torelli, S; Benson, MA; Ponting, CP; Estournet, B; Romero, NB; Mercuri, E; Voit, T; Sewry, CA; Guicheney, P; Muntoni, F
      Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan

      AMERICAN JOURNAL OF HUMAN GENETICS
    4. 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
    5. Ferreiro, A; Estournet, B; Chateau, D; Romero, NB; Laroche, C; Odent, S; Toutain, A; Cabello, A; Fontan, D; dos Santos, HG; Haenggeli, CA; Bertini, E; Urtizberea, JA; Guicheney, P; Fardeau, M
      Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases

      ANNALS OF NEUROLOGY
    6. FOUGEROUSSE F; DURAND M; SUEL L; POURQUIE O; DELEZOIDE AL; ROMERO NB; ABITBOL M; BECKMANN JS
      EXPRESSION OF GENES (CAPN3, SGCA, SGCB, AND TTN) INVOLVED IN PROGRESSIVE MUSCULAR-DYSTROPHIES DURING EARLY HUMAN-DEVELOPMENT

      Genomics
    7. 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
    8. EYMARD B; ROMERO NB; LETURCQ F; PICCOLO F; CARRIE A; JEANPIERRE M; COLLIN H; DEBURGRAVE N; AZIBI K; CHAOUCH M; MERLINI L; THEMARNOEL C; PENISSON I; MAYER M; TANGUY O; CAMPBELL KP; KAPLAN JC; TOME FMS; FARDEAU M
      PRIMARY ADHALINOPATHY (ALPHA-SARCOGLYCANOPATHY) - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATION IN 20 PATIENTS WITH AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY

      Neurology
    9. ROMERO NB; LOMBES A; TOUATI G; RIGAL O; FRACHON P; CHEVAL MA; GIRAUD M; POSSEKEL S; FARDEAU M; DEBAULNY HO
      MORPHOLOGICAL-STUDIES OF SKELETAL-MUSCLE IN LACTIC-ACIDOSIS

      Journal of inherited metabolic disease
    10. LOMBES A; ROMERO NB; TOUATI G; FRACHON P; CHEVAL MA; GIRAUD M; SIMON D; DEBAULNY HO
      CLINICAL AND MOLECULAR HETEROGENEITY OF CYTOCHROME-C-OXIDASE DEFICIENCY IN THE NEWBORN

      Journal of inherited metabolic disease
    11. EYMARD B; ROMERO NB; LETURCQ F; CARRIE A; PICCOLO F; COLLIN H; KAPLAN JC; TOME FMS; FARDEAU M; AZIBI K; CHAOUCH M; MERLINI L; PENISSON I; SEFIANI A; CAMPBELL KP
      ADHALIN-DEFICIENT MUSCULAR-DYSTROPHIES - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATIONS

      Neurology
    12. PICCOLO F; ROBERDS SL; JEANPIERRE M; LETURCQ F; AZIBI K; BELDJORD C; CARRIE A; RECAN D; CHAOUCH M; REGHIS A; ELKERCH F; SEFIANI A; VOIT T; MERLINI L; COLLIN H; EYMARD B; BECKMANN JS; ROMERO NB; TOME FMS; FARDEAU M; CAMPBELL KP; KAPLAN JC
      PRIMARY ADHALINOPATHY - A COMMON-CAUSE OF AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY OF VARIABLE SEVERITY

      Nature genetics
    13. POSSEKEL S; LOMBES A; DEBAULNY HO; CHEVAL MA; FARDEAU M; KADENBACH B; ROMERO NB
      IMMUNOHISTOCHEMICAL ANALYSIS OF MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY IN CHILDREN

      HISTOCHEMISTRY AND CELL BIOLOGY
    14. ROMERO NB; TOME FMS; LETURCQ F; ELKERCH F; AZIBI K; BACHNER L; ANDERSON RD; ROBERDS SL; CAMPBELL KP; FARDEAU M; KAPLAN JC
      GENETIC-HETEROGENEITY OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH ADHALIN (50 KDA DYSTROPHY-ASSOCIATED GLYCOPROTEIN) DEFICIENCY

      Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
    15. ROBERDS SL; LETURCQ F; ALLAMAND V; PICCOLO F; JEANPIERRE M; ANDERSON RD; LIM LE; LEE JC; TOME FMS; ROMERO NB; FARDEAU M; BECKMANN JS; KAPLAN JC; CAMPBELL KP
      MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY

      Cell
    16. MATSUMURA K; TOME FMS; IONASESCU V; ERVASTI JM; ANDERSON RD; ROMERO NB; SIMON D; RECAN D; KAPLAN JC; FARDEAU M; CAMPBELL KP
      DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN DUCHENNE MUSCULAR-DYSTROPHY PATIENTS LACKING COOH-TERMINAL DOMAINS OF DYSTROPHIN

      The Journal of clinical investigation


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/06/20 alle ore 06:12:06