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    1. 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
    2. Canki-Klain, N; Recan, D; Milicic, D; Llense, S; Leturcq, F; Deburgrave, N; Kaplan, JC; Debevec, M; Zurak, N
      Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy

      CROATIAN MEDICAL JOURNAL
    3. Merlini, L; Kaplan, JC; Navarro, C; Barois, A; Bonneau, D; Brasa, J; Echenne, B; Gallano, P; Jarre, L; Jeanpierre, M; Kalaydjieva, L; Leturcq, F; Levi-Gomes, A; Toutain, A; Tournev, I; Urtizberea, A; Vallat, JM; Voit, T; Warter, JM
      Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

      NEUROLOGY
    4. CANKIKLAIN N; RECAN D; LLENSE S; BARBOT JC; LETURCQ F; DEBURGRAVE N; KAPLAN JC; DEBEVEC M; ZURAK N
      DIRECT MOLECULAR-GENETIC DIAGNOSIS AND CARRIER IDENTIFICATION IN ONE EMERY-DREIFUSS MUSCULAR-DYSTROPHY FAMILY

      European journal of human genetics
    5. SANTOS HG; SANTOS R; VASCONCELOS R; FERNANDES HC; FREITAS C; LETURCQ F; KAPLAN JC; URTIZBEREA JA
      AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN PATIENTS FROM MADEIRA ISLAND - A CLINICAL AND GENETIC APPROACH

      European journal of human genetics
    6. MANILAL S; RECAN D; SEWRY CA; HOELTZENBEIN M; LLENSE S; LETURCQ F; DEBURGRAVE N; BARBOT JC; MAN NT; MUNTONI F; WEHNERT M; KAPLAN JC; MORRIS GE
      MUTATIONS IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY AND THEIR EFFECTS ON EMERIN PROTEIN EXPRESSION

      Human molecular genetics
    7. Dincer, P; Piccolo, F; Leturcq, F; Kaplan, JC; Jeanpierre, M; Topaloglu, H
      Prenatal diagnosis of limb-girdle muscular dystrophy Type 2C

      PRENATAL DIAGNOSIS
    8. ROSILIO M; COTTON JB; WIELICZKO MC; GENDRAULT B; CAREL JC; COUVARAS O; SER N; GILLET P; SOSKIN S; GARANDEAU P; STUCKENS C; LELUYER B; JOS J; BONYTRIFUNOVIC H; BERTRAND AM; LETURCQ F; LAFUMA A; BOUGNERES PF
      FACTORS ASSOCIATED WITH GLYCEMIC CONTROL - A CROSS-SECTIONAL NATIONWIDE STUDY IN 2,579 FRENCH CHILDREN WITH TYPE-1 DIABETES

      Diabetes care
    9. URTASUN M; POZA JJ; GALLANO P; LASA A; SAENZ A; COBO AM; LETURCQ F; DEMUNAIN AL; GARCIABRAGADO F
      MUSCULAR-DYSTROPHY DUE TO A MUTATION IN T HE GENE OF ALPHA-SARCOGLYCAN SUBUNIT OF DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX

      Medicina Clinica
    10. URTASUN M; SAENZ A; ROUDAUT C; POZA JJ; URTIZBEREA JA; COBO AM; RICHARD I; BRAGADO FG; LETURCQ F; KAPLAN JC; MASSO JFM; BECKMANN JS; DEMUNAIN AL
      LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)

      Brain (Print)
    11. 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
    12. DINCER P; LETURCQ F; RICHARD I; PICCOLO F; YALNIZOGLU D; DETOMA C; AKCOREN Z; BROUX O; DEBURGRAVE N; BRENGUIER L; ROUDAUT C; URTIZBEREA JA; JUNG D; TAN E; JEANPIERRE M; CAMPBELL KP; KAPLAN JC; BECKMANN JS; TOPALOGLU H
      A BIOCHEMICAL, GENETIC, AND CLINICAL SURVEY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES IN TURKEY

      Annals of neurology
    13. 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
    14. CARRIE A; PICCOLO F; LETURCQ F; DETOMA C; AZIBI K; BELDJORD C; VALLAT JM; MERLINI L; VOIT T; SEWRY C; URTIZBEREA JA; ROMERO N; TOME FMS; FARDEAU M; SUNADA Y; CAMPBELL KP; KAPLAN JC; JEANPIERRE M
      MUTATIONAL DIVERSITY AND HOT-SPOTS IN THE ALPHA-SARCOGLYCAN GENE IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY (LGMD2D)

      Journal of Medical Genetics
    15. JEANPIERRE M; PICCOLO F; MARIN V; LETURCQ F; URTIZBEREA JA; KAPLAN JC
      ANCESTRAL HAPLOTYPES AS GENETIC CLOCKS

      American journal of human genetics
    16. PICCOLO F; JEANPIERRE M; LETURCQ F; DODE C; AZIBI K; TOUTAIN A; MERLINI L; JARRE L; NAVARRO C; KRISHNAMOORTHY R; TOME FMS; URTIZBEREA JA; BECKMANN JS; CAMPBELL KP; KAPLAN JC
      A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA

      Human molecular genetics
    17. JEANPIERRE M; CARRIE A; PICCOLO F; LETURCQ F; AZIBI K; DETOMA C; BELDJORD C; MERLINI L; VOIT T; ROMERO N; SUNADA Y; TOME FMS; FARDEAU M; CAMPBELL KP; KAPLAN JC
      FROM ADHALINOPATHIES TO ALPHA-SARCOGLYCANOPATHIES - AN OVERVIEW

      Neuromuscular disorders
    18. OEXLE K; HERRMANN R; DODE C; LETURCQ F; HUBNER C; KAPLAN JC; MIZUNO Y; OZAWA E; CAMPBELL KP; VOIT T
      NEUROSENSORY HEARING-LOSS IN SECONDARY ADHALINOPATHY

      Neuropediatrics
    19. 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
    20. JUNG D; LETURCQ F; SUNADA Y; DUCLOS F; TOME FMS; MOOMAW C; MERLINI L; AZIBI K; CHAOUCH M; SLAUGHTER C; FARDEAU M; KAPLAN JC; CAMPBELL KP
      ABSENCE OF GAMMA-SARCOGLYCAN (35-DAG) IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY LINKED TO CHROMOSOME 13Q12

      FEBS letters
    21. 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
    22. MALAPERT D; RECAN D; LETURCQ F; DEGOS JD; GHERARDI RK
      SPORADIC LOWER-LIMB HYPERTROPHY AND EXERCISE-INDUCED MYALGIA IN A WOMAN WITH DYSTROPHIN GENE DELETION

      Journal of Neurology, Neurosurgery and Psychiatry
    23. KAPLAN JC; CARRIE A; PICCOLO F; SUNADA Y; LETURCQ F; AZIBI K; ELKERCH F; BELDJORD C; MERLINI L; VOIT T; ROMERO N; TOME FMS; FARDEAU M; CAMPBELL KP; JEANPIERRE M
      ALLELIC AND PHENOTYPIC HETEROGENEITY OF PRIMARY ADHALINOPATHIES

      American journal of human genetics
    24. JEANPIERRE M; BECKMANN JS; AZIBI K; ELKERCH F; LETURCQ F; RECAN D; MERLINI L; TOUTAIN A; BONNEAU D; TOME FMS; FARDEAU M; KAPLAN JC; DODE C
      REFINED MAPPING OF THE LGMD2C LOCUS TO A 1-CENTIMORGAN INTERVAL

      American journal of human genetics
    25. ALLAMAND V; LETURCQ F; PICCOLO F; JEANPIERRE M; AZIBI K; ROBERDS SL; LIM LE; CAMPBELL KP; BECKMANN JS; KAPLAN JC
      ADHALIN GENE POLYMORPHISM

      Human molecular genetics
    26. MATSUMURA K; TOME FMS; COLLIN H; LETURCQ F; JEANPIERRE M; KAPLAN JC; FARDEAU M; CAMPBELL KP
      EXPRESSION OF DYSTROPHIN-ASSOCIATED PROTEINS TN DYSTROPHIN-POSITIVE MUSCLE-FIBERS (REVERTANTS) IN DUCHENNE MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    27. 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
    28. TIHY F; VOGT N; RECAN D; MALFOY B; LETURCQ F; COQUET M; SERVILLE F; FONTAN D; GUILLARD JM; KAPLAN JC; DUTRILLAUX B; LEMIEUX N
      SKEWED INACTIVATION OF AN X-CHROMOSOME DELETED AT THE DYSTROPHIN GENEIN AN ASYMPTOMATIC MOTHER AND HER AFFECTED DAUGHTER

      Human genetics
    29. 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
    30. ELKERCH F; SEFIANI A; AZIBI K; BOUTALEB N; YAHYAOUI M; BENTAHILA A; VINET MC; LETURCQ F; BACHNER L; BECKMANN J; CAMPBELL KP; TOME FMS; FARDEAU M; KAPLAN JC
      LINKAGE ANALYSIS OF FAMILIES WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY IN MOROCCO INDICATES GENETIC HOMOGENEITY OF THE DISEASE IN NORTH-AFRICA

      Journal of Medical Genetics
    31. MATSUMURA K; BURGHES AHM; MORA M; TOME FMS; MORANDI L; CORNELLO F; LETURCQ F; JEANPIERRE M; KAPLAN JC; REINERT P; FARDEAU M; MENDELL JR; CAMPBELL KP
      IMMUNOHISTOCHEMICAL ANALYSIS OF DYSTROPHIN-ASSOCIATED PROTEINS IN BECKER DUCHENNE MUSCULAR-DYSTROPHY WITH HUGE IN-FRAME DELETIONS IN THE NH2-TERMINAL AND ROD DOMAINS OF DYSTROPHIN/

      The Journal of clinical investigation
    32. AZIBI K; BACHNER L; BECKMANN JS; MATSUMURA K; HAMOUDA E; CHAOUCH M; CHAOUCH A; AITOUARAB R; VIGNAL A; WEISSENBACH J; VINET MC; LETURCQ F; COLLIN H; TOME FMS; REGHIS A; FARDEAU M; CAMPBELL KP; KAPLAN JC
      SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH THE DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN MAPS TO CHROMOSOME-13Q12

      Human molecular genetics
    33. FARDEAU M; MATSUMURA K; TOME FMS; COLLIN H; LETURCQ F; KAPLAN JC; CAMPBELL KP
      DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN (ADHALIN)IN SEVERE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN CHILDREN NATIVEFROM EUROPEAN COUNTRIES

      Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
    34. KAPLAN JC; LETURCQ F; JEANPIERRE M; RECAN D
      MOLECULAR PATHOLOGY OF THE DYSTROPHIN GENE - DIAGNOSTIC APPLICATIONS AND PROBLEMS

      Annales de biologie clinique
    35. TIHY F; VOGT N; MALFOY B; RECAN D; LETURCQ F; KAPLAN JC; COQUET M; SERVILLE F; GUILLARD JM; DUTRILLAUX B; RICHER CL; LEMIEUX N
      PHENOTYPE DISCORDANCE BETWEEN A HEALTHY MOTHER AND HER DMD-AFFECTED DAUGHTER SHARING THE SAME MOLECULAR DELETION WITHIN THE DYSTROPHIN GENE- EVIDENCE SUPPORTING THE NONRANDOM X INACTIVATION

      American journal of human genetics
    36. MATSUMURA K; NONAKA I; TOME FMS; ARAHATA K; COLLIN H; LETURCQ F; RECAN D; KAPLAN JC; FARDEAU M; CAMPBELL KP
      MILD DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN BECKER MUSCULAR-DYSTROPHY PATIENTS HAVING IN-FRAME DELETIONS IN THE ROD DOMAIN OF DYSTROPHIN

      American journal of human genetics


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Documento generato il 26/01/21 alle ore 14:24:20