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    1. Eisenberg, I; Avidan, N; Potikha, T; Hochner, H; Chen, M; Olender, T; Barash, M; Shemesh, M; Sadeh, M; Grabov-Nardini, G; Shmilevich, I; Friedmann, A; Karpati, G; Bradley, WG; Baumbach, L; Lancet, D; Ben Asher, E; Beckmann, JS; Argov, Z; Mitrani-Rosenbaum, S
      The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene ismutated in recessive hereditary inclusion body myopathy

      NATURE GENETICS
    2. Baghdiguian, S; Richard, I; Martin, M; Coopman, P; Beckmann, JS; Mangeat, P; Lefranc, G
      Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the I kappa B alpha/NF-kappa B survival pathway in skeletal muscle

      JOURNAL OF MOLECULAR MEDICINE-JMM
    3. Mologni, L; Salmikangas, P; Fougerousse, F; Beckmann, JS; Carpen, O
      Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A

      MECHANISMS OF DEVELOPMENT
    4. Stockholm, D; Herasse, M; Marchand, S; Praud, C; Roudaut, C; Richard, I; Sebille, A; Beckmann, JS
      Calpain 3 mRNA expression in mice after denervation and during muscle regeneration

      AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
    5. Aoki, M; Liu, J; Richard, I; Bashir, R; Britton, S; Keers, SM; Oeltjen, J; Brown, HEV; Marchand, S; Bourg, N; Beley, C; McKenna-Yasek, D; Arahata, K; Bohlega, S; Cupler, E; Illa, I; Majneh, I; Barohn, RJ; Urtizberea, JA; Fardeau, M; Amato, A; Angelini, C; Bushby, K; Beckmann, JS; Brown, RH
      Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

      NEUROLOGY
    6. Haravuori, H; Vihola, A; Straub, V; Auranen, M; Richard, I; Marchand, S; Voit, T; Labeit, S; Somer, H; Peltonen, L; Beckmann, JS; Udd, B
      Secondary calpain3 deficiency in 2q-linked muscular dystrophy - Titin is the candidate gene

      NEUROLOGY
    7. Jia, ZC; Petrounevitch, V; Wong, A; Moldoveanu, T; Davies, PL; Elce, JS; Beckmann, JS
      Mutations in calpain 3 associated with limb girdle muscular dystrophy: Analysis by molecular modeling and by mutation in m-calpain

      BIOPHYSICAL JOURNAL
    8. Sylvius, N; Tesson, F; Gayet, C; Charron, P; Benaiche, A; Mangin, L; Peuchmaurd, M; Duboscq-Bidot, L; Feingold, J; Beckmann, JS; Bouchier, C; Komajda, M
      A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q14

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. Fougerousse, F; Bullen, P; Herasse, M; Lindsay, S; Richard, I; Wilson, D; Suel, L; Durand, M; Robson, S; Abitbol, M; Beckmann, JS; Strachan, T
      Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes

      HUMAN MOLECULAR GENETICS
    10. Anderson, LVB; Harrison, RM; Pogue, R; Vafiadaki, E; Pollitt, C; Davison, K; Moss, JA; Keers, S; Pyle, A; Shaw, PJ; Mahjneh, I; Argov, Z; Greenberg, CR; Wrogemann, K; Bertorini, T; Goebel, HH; Beckmann, JS; Bashir, R; Bushby, KMD
      Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

      NEUROMUSCULAR DISORDERS
    11. Fougerousse, F; Anderson, LVB; Delezoide, AL; Suel, L; Durand, M; Beckmann, JS
      Calpain3 expression during human cardiogenesis

      NEUROMUSCULAR DISORDERS
    12. Escary, JL; Bottius, E; Prince, N; Reyes, C; Fiawoumo, Y; Caloustian, C; Bruls, T; Fujiyama, A; Cooper, RS; Adeyemo, AA; Lathrop, GM; Weissenbach, J; Gyapay, G; Foglio, M; Beckmann, JS
      A first high-density map of 981 biallelic markers on human chromosome 14

      GENOMICS
    13. Ma, H; Shih, M; Fukiage, C; Azuma, M; Duncan, MK; Reed, NA; Richard, I; Beckmann, JS; Shearer, TR
      Influence of specific regions in Lp82 calpain on protein stability, activity, and localization within lens

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    14. Dincer, P; Akcoren, Z; Demir, E; Richard, I; Sancak, O; Kale, G; Ozme, S; Karaduman, A; Tan, E; Urtizberea, JA; Beckmann, JS; Topaloglu, H
      A cross section of autosomal recessive limb-girdle muscular dystrophies in38 families

      JOURNAL OF MEDICAL GENETICS
    15. Richard, I; Roudaut, C; Marchand, S; Baghdiguian, S; Herasse, M; Stockholm, D; Ono, Y; Suel, L; Bourg, N; Sorimachi, H; Lefranc, G; Fardeau, M; Sebille, A; Beckmann, JS
      Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated I kappa B alpha/nuclear factor kappa B pathway perturbation in mice

      JOURNAL OF CELL BIOLOGY
    16. Freiburg, A; Trombitas, K; Hell, W; Cazorla, O; Fougerousse, F; Centner, T; Kolmerer, B; Witt, C; Beckmann, JS; Gregorio, CC; Granzier, H; Labeit, S
      Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity

      CIRCULATION RESEARCH
    17. Topcu, M; Gartioux, L; Ribierre, F; Yalcinkaya, C; Tokus, E; Oztekin, N; Beckmann, JS; Ozguc, M; Seboun, E
      Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22q(tel)

      AMERICAN JOURNAL OF HUMAN GENETICS
    18. Baghdiguian, S; Martin, M; Richard, I; Pons, F; Astier, C; Bourg, N; Hay, RT; Chemaly, R; Halaby, G; Loiselet, J; Anderson, LVB; de Munain, AL; Fardeau, M; Mangeat, P; Beckmann, JS; Lefranc, G
      Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A (vol 5, pg 503, 1999)

      NATURE MEDICINE
    19. Baghdiguian, S; Martin, M; Richard, I; Pons, F; Astier, C; Bourg, N; Hay, RT; Chemaly, R; Halaby, G; Loiselet, J; Anderson, LVB; de Munain, AL; Fardeau, M; Mangeat, P; Beckmann, JS; Lefranc, G
      Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the I kappa B alpha/NF-kappa B pathway in limb-girdle muscular dystrophy type 2A

      NATURE MEDICINE
    20. Drenth, JPH; Cuisset, L; Grateau, G; Vasseur, C; van de Velde-Visser, SD; de Jong, JGN; Beckmann, JS; van der Meer, JWM; Delpech, M
      Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

      NATURE GENETICS
    21. Anderson, LVB; Davison, K; Moss, JA; Young, C; Cullen, MJ; Walsh, J; Johnson, MA; Bashir, R; Britton, S; Keers, S; Argov, Z; Mahjneh, I; Fougerousse, F; Beckmann, JS; Bushby, KMD
      Dysferlin is a plasma membrane protein and is expressed early in human development (vol 8, pg 855, 1999)

      HUMAN MOLECULAR GENETICS
    22. Anderson, LVB; Davison, K; Moss, JA; Young, C; Cullen, MJ; Walsh, J; Johnson, MA; Bashir, R; Britton, S; Keers, S; Argov, Z; Mahjneh, I; Fougerousse, F; Beckmann, JS; Bushby, KMD
      Dysferlin is a plasma membrane protein and is expressed early in human development

      HUMAN MOLECULAR GENETICS
    23. Mustapha, M; Weil, D; Chardenoux, S; Elias, S; El-Zir, E; Beckmann, JS; Loiselet, J; Petit, C
      An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21

      HUMAN MOLECULAR GENETICS
    24. Richard, I; Bourg, N; Marchand, S; Alibert, O; Eymard, B; van der Kooi, AJ; Jackson, CE; Garcia, C; Burgunder, JM; Legum, C; de Visser, M; Fardeau, M; Beckmann, JS
      A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

      NEUROMUSCULAR DISORDERS
    25. Herasse, M; Fougerousse, F; Stockholm, D; Beckmann, JS; Richard, I; Baghdiguian, S; Martin, M; Lefranc, G
      Calpain 3 and limb-girdle muscular dystrophy type 2A

      M S-MEDECINE SCIENCES
    26. Poza, JJ; Saenz, A; Martinez-Gil, A; Cheron, N; Cobo, AM; Urtasun, M; Marti-Masso, JF; Grid, D; Beckmann, JS; Prud'homme, JF; de Munain, AL
      Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q

      ANNALS OF NEUROLOGY
    27. Herasse, M; Ono, Y; Fougerousse, F; Kimura, E; Stockholm, D; Beley, C; Montarras, D; Pinset, C; Sorimachi, H; Suzuki, K; Beckmann, JS; Richard, I
      Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events

      MOLECULAR AND CELLULAR BIOLOGY
    28. Barbieri, AM; Lupo, G; Bulfone, A; Andreazzoli, M; Mariani, M; Fougerousse, F; Consalez, GG; Borsani, G; Beckmann, JS; Barsacchi, G; Ballabio, A; Banfi, S
      A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    29. Beckmann, JS
      Disease taxonomy - monogenic muscular dystrophy

      BRITISH MEDICAL BULLETIN
    30. Federici, C; Eshdat, Y; Richard, I; Bertin, B; Guillaume, JL; Hattab, M; Beckmann, JS; Strosberg, AD; Camoin, L
      Purification and identification of two putative autolytic sites in human calpain 3 (p94) expressed in heterologous systems

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    31. Cuisset, L; Drenth, JPH; Berthelot, JM; Meyrier, A; Vaudour, G; Watts, RA; Scott, DGI; Nicholls, A; Pavek, S; Vasseur, C; Beckmann, JS; Delpech, M; Grateau, G
      Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44

      AMERICAN JOURNAL OF HUMAN GENETICS
    32. Richard, I; Roudaut, C; Saenz, A; Pogue, R; Grimbergen, JEMA; Anderson, LVB; Beley, C; Cobo, AM; de Diego, C; Eymard, B; Gallano, P; Ginjaar, HB; Lasa, A; Pollitt, C; Topaloglu, H; Urtizberea, JA; de Visser, M; van der Kooi, A; Bushby, K; Bakker, E; de Munain, AL; Fardeau, M; Beckmann, JS
      Calpainopathy - A survey of mutations and polymorphisms

      AMERICAN JOURNAL OF HUMAN GENETICS
    33. VARFOLOMEEV EE; SCHUCHMANN M; LURIA V; CHIANNILKULCHAI N; BECKMANN JS; METT IL; REBRIKOV D; BRODIANSKI VM; KEMPER OC; KOLLET O; LAPIDOT T; SOFFER D; SOBE T; AVRAHAM KB; GONCHAROV T; HOLTMANN H; LONAI P; WALLACH D
      TARGETED DISRUPTION OF THE MOUSE CASPASE-8 GENE ABLATES CELL-DEATH INDUCTION BY THE TNF RECEPTORS, FAS APO1, AND DR3 AND IS LETHAL PRENATALLY/

      Immunity (Cambridge, Mass.)
    34. BASHIR R; BRITTON S; STRACHAN T; KEERS S; VAFIADAKI E; LAKO M; RICHARD I; MARCHAND S; BOURG N; ARGOV Z; SADEH M; MAHJNEH I; MARCONI G; PASSOSBUENO MR; MOREIRA ED; ZATZ M; BECKMANN JS; BUSHBY K
      A GENE-RELATED TO CAENORHABDITIS-ELEGANS SPERMATOGENESIS FACTOR FER-1IS MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2B

      Nature genetics
    35. DUCLOS F; BROUX O; BOURG N; STRAUB V; FELDMAN GL; SUNADA Y; LIM LE; PICCOLO F; CUTSHALL S; GARY F; QUETIER F; KAPLAN JC; JACKSON CE; BECKMANN JS; CAMPBELL KP
      BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE

      Neuromuscular disorders
    36. 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
    37. PENISSONBESNIER I; RICHARD I; DUBAS F; BECKMANN JS; FARDEAU M
      PSEUDOMETABOLIC EXPRESSION AND PHENOTYPIC VARIABILITY OF CALPAIN DEFICIENCY IN 2 SIBLINGS

      Muscle & nerve
    38. KAWAI H; AKAIKE M; KUNISHIGE M; INUI T; ADACHI K; KIMURA C; KAWAJIRI M; NISHIDA Y; ENDO I; KASHIWAGI S; NISHINO H; FUJIWARA T; OKUNO S; ROUDAUT C; RICHARD I; BECKMANN JS; MIYOSHI K; MATSUMOTO T
      CLINICAL, PATHOLOGICAL, AND GENETIC FEATURES OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A WITH NEW CALPAIN-3 GENE-MUTATIONS IN 7 PATIENTS FROM3 JAPANESE FAMILIES

      Muscle & nerve
    39. DELOUKAS P; SCHULER GD; GYAPAY G; BEASLEY EM; SODERLUND C; RODRIGUEZTOME P; HUI L; MATISE TC; MCKUSICK KB; BECKMANN JS; BENTOLILA S; BIHOREAU MT; BIRREN BB; BROWNE J; BUTLER A; CASTLE AB; CHIANNILKULCHAI N; CLEE C; DAY PJR; DEHEJIA A; DIBLING T; DROUOT N; DUPRAT S; FIZAMES C; FOX S; GELLING S; GREEN L; HARRISON P; HOCKING R; HOLLOWAY E; HUNT S; KEIL S; LIJNZAAD P; LOUISDITSULLY C; MA J; MENDIS A; MILLER J; MORISSETTE J; MUSELET D; NUSBAUM HC; PECK A; ROZEN S; SIMON D; SLONIM DK; STAPLES R; STEIN LD; STEWART EA; SUCHARD MA; THANGARAJAH T; VEGACZARNY N; WEBBER C; WU X; HUDSON J; AUFFRAY C; NOMURA N; SIKELA JM; POLYMEROPOULOS MH; JAMES MR; LANDER ES; HUDSON TJ; MYERS RM; COX DR; WEISSENBACH J; BOGUSKI MS; BENTLEY DR
      A PHYSICAL MAP OF 30,000 HUMAN GENES

      Science
    40. ONO Y; SHIMADA H; SORIMACHI H; RICHARD I; SAIDO TC; BECKMANN JS; ISHIURA S; SUZUKI K
      FUNCTIONAL DEFECTS OF A MUSCLE-SPECIFIC CALPAIN, P94, CAUSED BY MUTATIONS ASSOCIATED WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A

      The Journal of biological chemistry
    41. FOUGEROUSSE F; DELEOZIDE AL; FISZMAN MY; SCHWARTZ K; BECKMANN JS; CARRIER L
      CARDIAC MYOSIN BINDING-PROTEIN-C GENE IS SPECIFICALLY EXPRESSED IN HEART DURING MURINE AND HUMAN-DEVELOPMENT

      Circulation research
    42. 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)
    43. ANDERSON LVB; DAVISON K; MOSS JA; RICHARD I; FARDEAU M; TOME FMS; HUBNER C; LASA A; COLOMER J; BECKMANN JS
      CHARACTERIZATION OF MONOCLONAL-ANTIBODIES TO CALPAIN-3 AND PROTEIN EXPRESSION IN MUSCLE FROM PATIENTS WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A

      The American journal of pathology
    44. Feit, H; Silbergleit, A; Schneider, LB; Gutierrez, JA; Fitoussi, RP; Reyes, C; Rouleau, GA; Brais, B; Jackson, CE; Beckmann, JS; Seboun, E
      Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: Clinical description and gene localization to 5q31

      AMERICAN JOURNAL OF HUMAN GENETICS
    45. STRACHAN T; ABITBOL M; DAVIDSON D; BECKMANN JS
      A NEW DIMENSION FOR THE HUMAN GENOME PROJECT - TOWARDS COMPREHENSIVE EXPRESSION MAPS

      Nature genetics
    46. ZOUALI H; HANI EH; PHILIPPI A; VIONNET N; BECKMANN JS; DEMENAIS F; FROGUEL P
      A SUSCEPTIBILITY LOCUS FOR EARLY-ONSET NON-INSULIN-DEPENDENT (TYPE-2)DIABETES-MELLITUS MAPS TO CHROMOSOME 20Q, PROXIMAL TO THE PHOSPHOENOLPYRUVATE CARBOXYKINASE GENE

      Human molecular genetics
    47. 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
    48. TOPALOGLU H; DINCER P; RICHARD I; AKCOREN Z; ALEHAN D; OZME S; CAGLAR M; KARADUMAN A; URTIZBEREA JA; BECKMANN JS
      CALPAIN-3 DEFICIENCY CAUSES A MILD MUSCULAR-DYSTROPHY IN CHILDHOOD

      Neuropediatrics
    49. MICHALET X; EKONG R; FOUGEROUSSE F; ROUSSEAUX S; SCHURRA C; HORNIGOLD N; VANSLEGTENHORST M; WOLFE J; POVEY S; BECKMANN JS; BENSIMON A
      DYNAMIC MOLECULAR COMBING - STRETCHING THE WHOLE HUMAN GENOME FOR HIGH-RESOLUTION STUDIES

      Science
    50. FARDEAU M; EYMARD B; MIGNARD C; TOME FMS; RICHARD I; BECKMANN JS
      CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - COMPARISON OF THE CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES

      Neurology
    51. MICHALET X; FOUGEROUSSE F; SCHURRA C; BECKMANN JS; BENSIMON A
      ORIENTATION OF THE CAPN3 GENE BY FLUORESCENT HYBRIDIZATION ON COMBED GENOMIC DNA OF YEAST (YAC), HUMAN AND MOUSE

      American journal of human genetics
    52. URTIZBEREA JA; URTASUN M; RICHARD I; SAENZ A; POZA JJ; COBO AM; DEMUNAIN L; BECKMANN JS
      LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH CALPAIN DEFICIENCY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)

      American journal of human genetics
    53. RICHARD I; BRENGUIER L; DINCER P; ROUDAUT C; BADY B; BURGUNDER JM; CHEMALY R; GARCIA CA; HALABY G; JACKSON CE; KURNIT DM; LEFRANC G; LEGUM C; LOISELET J; MERLINI L; NIVELONCHEVALLIER A; OLLAGNONROMAN E; RESTAGNO G; TOPALOGLU H; BECKMANN JS
      MULTIPLE INDEPENDENT MOLECULAR ETIOLOGY FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A PATIENTS FROM VARIOUS GEOGRAPHICAL ORIGINS

      American journal of human genetics
    54. SORIMACHI H; FORSBERG NE; LEE HJ; JOENG SY; RICHARD I; BECKMANN JS; ISHIURA S; SUZUKI K
      HIGHLY CONSERVED STRUCTURE IN THE PROMOTER REGION OF THE GENE FOR MUSCLE-SPECIFIC CALPAIN, P94

      Biological chemistry
    55. BECKMANN JS; BUSHBY KMD
      ADVANCES IN THE MOLECULAR-GENETICS OF THE LIMB-GIRDLE TYPE OF AUTOSOMAL RECESSIVE PROGRESSIVE MUSCULAR-DYSTROPHY

      Current opinion in neurology
    56. BECKMANN JS
      GENETIC-STUDIES AND MOLECULAR-STRUCTURES - THE DYSTROPHIN-ASSOCIATED COMPLEX

      Human molecular genetics
    57. 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
    58. FARDEAU M; EYMARD B; MIGNARD C; TOME FMS; RICHARD I; BECKMANN JS
      CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES

      Neuromuscular disorders
    59. BECKMANN JS; RICHARD I; BROUX O; FOUGEROUSSE F; ALLAMAND V; CHIANNILKULCHAI N; LIM LE; DUCLOS F; BOURG N; BRENGUIER L; PASTURAUD P; QUETIER F; ROUDAUT C; SUNADA Y; MEYER J; DINCER P; LEFRANC G; MERLINI L; TOPALOGLU H; TOME FMS; COHEN D; JACKSON CE; CAMPBELL KP; FARDEAU M
      IDENTIFICATION OF MUSCLE-SPECIFIC CALPAIN AND BETA-SARCOGLYCAN GENES IN PROGRESSIVE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES

      Neuromuscular disorders
    60. RESTAGNO G; ROMERO N; RICHARD I; BECKMANN JS; PAGLIANO M; FERRONE M; CARBONARA A; MERLINI L
      PRENATAL-DIAGNOSIS OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A

      Neuromuscular disorders
    61. RICHARD I; BECKMANN JS
      MOLECULAR-CLONING OF MOUSE CANP3, THE GENE ASSOCIATED WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY 2A IN HUMAN

      Mammalian genome
    62. FUCHSHUBER A; JEAN G; GRIBOUVAL O; GUBLER MC; BROYER M; BECKMANN JS; NIAUDET P; ANTIGNAC C
      MAPPING A GENE (SRN1) TO CHROMOSOME 1Q25-Q31 IN IDIOPATHIC NEPHROTIC SYNDROME CONFIRMS A DISTINCT ENTITY OF AUTOSOMAL RECESSIVE NEPHROSIS

      Kidney international
    63. SCHULER GD; BOGUSKI MS; STEWART EA; STEIN LD; GYAPAY G; RICE K; WHITE RE; RODRIGUEZTOME P; AGGARWAL A; BAJOREK E; BENTOLILA S; BIRREN BB; BUTLER A; CASTLE AB; CHIANNILKULCHAI N; CHU A; CLEE C; COWLES S; DAY PJR; DIBLING T; DROUOT N; DUNHAM I; DUPRAT S; EAST C; EDWARDS C; FAN JB; FANG N; FIZAMES C; GARRETT C; GREEN L; HADLEY D; HARRIS M; HARRISON P; BRADY S; HICKS A; HOLLOWAY E; HUI L; HUSSAIN S; LOUISDITSULLY C; MA J; MACGILVERY A; MADER C; MARATUKULAM A; MATISE TC; MCKUSICK KB; MORISSETTE J; MUNGALL A; MUSELET D; NUSBAUM HC; PAGE DC; PECK A; PERKINS S; PIERCY M; QIN F; QUACKENBUSH J; RANBY S; REIF T; ROZEN S; SANDERS C; SHE X; SILVA J; SLONIM DK; SODERLUND C; SUN WL; TABAR P; THANGARAJAH T; VEGACZAMY N; VOLLRATH D; VOYTICKY S; WILMER T; WU X; ADAMS MD; AUFFRAY C; WALTER NAR; BRANDON R; DEHEJIA A; GOODFELLOW PN; HOULGATTE R; HUDSON JR; IDE SE; IORIO KR; LEE WY; SEKI N; NAGASE T; ISHIKAWA K; NOMURA N; PHILLIPS C; POLYMEROPOULOS MH; SANDUSKY M; SCHMITT K; BERRY R; SWANSON K; TORRES R; VENTER JC; SIKELA JM; BECKMANN JS; WEISSENBACH J; MYERS RM; COX DR; JAMES MR; BENTLEY D; DELOUKAS P; LANDER ES; HUDSON TJ
      A GENE MAP OF THE HUMAN GENOME

      Science
    64. BECKMANN JS
      THE REUNION PARADOX AND THE DIGENIC MODEL

      American journal of human genetics
    65. VAXILLAIRE M; BOCCIO V; PHILIPPI A; VIGOUROUX C; TERWILLIGER J; PASSA P; BECKMANN JS; VELHO G; LATHROP GM; FROGUEL P
      A GENE FOR MATURITY-ONSET DIABETES OF THE YOUNG (MODY) MAPS TO CHROMOSOME 12Q

      Nature genetics
    66. LIM LE; DUCLOS F; BROUX O; BOURG N; SUNADA Y; ALLAMAND V; MEYER J; RICHARD IZ; MOOMAW C; SLAUGHTER C; TOME FMS; FARDEAU M; JACKSON CE; BECKMANN JS; CAMPBELL KP
      BETA-SARCOGLYCAN - CHARACTERIZATION AND ROLE IN LIMB-GIRDLE MUSCULAR-DYSTROPHY LINKED TO 4Q12

      Nature genetics
    67. RICHARD I; BECKMANN JS
      HOW NEUTRAL ARE SYNONYMOUS CODON MUTATIONS

      Nature genetics
    68. 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
    69. LIM LE; DUCLOS F; BROUX O; BOURG N; SUNADA Y; ALLAMAND V; MEYER J; RICHARD I; MOOMAW C; SLAUGHTER C; JACKSON CE; BECKMANN JS; CAMPBELL KP
      CHARACTERIZATION OF A 43 KDA COMPONENT OF THE DYSTROPHIN-GLYCOPROTEINCOMPLEX AND INVOLVEMENT IN A NOVEL FORM OF RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Molecular biology of the cell
    70. CHIANNILKULCHAI N; PASTURAUD P; RICHARD I; AUFFRAY C; BECKMANN JS
      A PRIMARY EXPRESSION MAP OF THE CHROMOSOME 15Q15 REGION CONTAINING THE RECESSIVE FORM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A) GENE

      Human molecular genetics
    71. ALLAMAND V; BROUX O; BOURG N; RICHARD I; TISCHFIELD JA; HODES ME; CONNEALLY PM; FARDEAU M; JACKSON CE; BECKMANN JS
      GENETIC-HETEROGENEITY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN A GENETIC ISOLATE (AMISH) AND EVIDENCE FOR A NEW LOCUS

      Human molecular genetics
    72. FUCHSHUBER A; JEAN G; GRIBOUVAL O; GUBLER MC; BROYER M; BECKMANN JS; NIAUDET P; ANTIGNAC C
      MAPPING A GENE (SRN1) TO CHROMOSOME 1Q25-Q31 IN IDIOPATHIC NEPHROTIC SYNDROME CONFIRMS A DISTINCT ENTITY OF AUTOSOMAL RECESSIVE NEPHROSIS

      Human molecular genetics
    73. BUSHBY KMD; BECKMANN JS
      THE LIMB-GIRDLE MUSCULAR-DYSTROPHIES - PROPOSAL FOR A NEW NOMENCLATURE - 30TH AND 31ST ENMC INTERNATIONAL WORKSHOPS, NAARDEN, THE NETHERLANDS, HELD 6-8-JANUARY-1995

      Neuromuscular disorders
    74. RICHARD I; ROUDAUT C; FOUGEROUSSE F; CHIANNILKULCHAI N; BECKMANN JS
      AN STS MAP OF THE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A REGION

      Mammalian genome
    75. RICHARD I; BROUX O; ALLAMAND V; FOUGEROUSSE F; CHIANNILKULCHAI N; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; ROUDAUT C; HILLAIRE D; PASSOSBUENO MR; ZATZ M; TISCHFIELD JA; FARDEAU M; JACKSON CE; COHEN D; BECKMANN JS
      A GENE FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY CODES FOR A PROTEASE, CALPAIN-3

      MS. Medecine sciences
    76. DUCLOS F; LIM LE; SUNADA Y; MEYER J; CAMPBELL KP; BROUX O; BOURG N; ALLAMAND V; RICHARD I; BECKMANN JS; MOOMAW C; SLAUGHTER C; TOME FMS; FARDEAU M; JACKSON CE
      BETA-SARCOGLYCAN - A PROTEIN OF THE DYSTR OPHIN-GLYCOPROTEINS COMPLEX, IS RESPONSIBLE FOR RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY

      MS. Medecine sciences
    77. RICHARD I; BROUX O; ALLAMAND V; FOUGEROUSSE F; CHIANNILKULCHAI N; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; ROUDAUT C; HILLAIRE D; PASSOSBUENO MR; ZATZ M; TISCHFIELD JA; FARDEAU M; JACKSON CE; COHEN D; BECKMANN JS
      MUTATIONS IN THE PROTEOLYTIC-ENZYME CALPAIN-3 CAUSE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2A

      Cell
    78. 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
    79. PRATT VM; RICHARD I; BECKMANN JS; JACKSON CE; FELDMAN GL
      SEARCH FOR EVIDENCE OF DIGENIC INHERITANCE OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A) IN THE NORTHERN INDIANA AND PENNSYLVANIA AMISH POPULATION

      American journal of human genetics
    80. ALLAMAND V; BROUX O; RICHARD I; FOUGEROUSSE F; CHIANNILKULCHAI N; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; DESOUZA AP; ROUDAUT C; TISCHFIELD JA; CONNEALLY PM; FARDEAU M; COHEN D; JACKSON CE; BECKMANN JS
      PREFERENTIAL LOCALIZATION OF THE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A GENE IN THE PROXIMAL PART OF A 1-CM 15Q15.1-Q15.3 INTERVAL

      American journal of human genetics
    81. HILLAIRE D; LECLERC A; FAURE S; TOPALOGLU H; CHIANNILKULCHAI N; GUICHENEY P; GRINAS L; LEGOS P; PHILPOT J; EVANGELISTA T; ROUTON MC; MAYER M; PELLISSIER JF; ESTOURNET B; BAROIS A; HENTATI F; FEINGOLD N; BECKMANN JS; DUBOWITZ V; TOME FMS; FARDEAU M
      LOCALIZATION OF MEROSIN-NEGATIVE CONGENITAL MUSCULAR-DYSTROPHY TO CHROMOSOME 6Q2 BY HOMOZYGOSITY MAPPING

      Human molecular genetics
    82. FOUGEROUSSE F; BROUX O; RICHARD I; ALLAMAND V; DESOUZA AP; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; ROUDAUT C; CHIANNILKULCHAI N; HILLAIRE D; BUI H; CHUMAKOV I; WEISSENBACH J; CHERIF D; COHEN D; BECKMANN JS
      MAPPING OF A CHROMOSOME-15 REGION INVOLVED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY

      Human molecular genetics
    83. DESOUZA AP; ALLAMAND V; RICHARD I; BRENGUIER L; BECKMANN JS
      3 DINUCLEOTIDE MARKERS ON CHROMOSOME-21

      Human molecular genetics
    84. ALLAMAND V; DESOUZA AP; RICHARD I; BRENGUIER L; BECKMANN JS
      DINUCLEOTIDE REPEAT POLYMORPHISM AT D15S221

      Human molecular genetics
    85. DESOUZA AP; ALLAMAND V; RICHARD I; BRENGUIER L; BECKMANN JS
      2 DINUCLEOTIDE REPEATS TIGHTLY LINKED TO D12S91

      Human molecular genetics
    86. 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
    87. KASHI Y; NAVE A; DARVASI A; GRUENBAUM Y; SOLLER M; BECKMANN JS
      HOW IS IT THAT MICROSATELLITES AND RANDOM OLIGONUCLEOTIDES UNCOVER DNA FINGERPRINT PATTERNS

      Mammalian genome
    88. RICHARD I; BROUX O; CHIANNILKULCHAI N; FOUGEROUSSE F; ALLAMAND V; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; ROUDAUT C; LORENZO F; SEBASTIANIKABATCHIS C; SCHULTZ RA; POLYMEROPOULOS MH; GYAPAY G; AUFFRAY C; BECKMANN JS
      REGIONAL LOCALIZATION OF HUMAN-CHROMOSOME-15 LOCI

      Genomics
    89. DESOUZA AP; ALLAMAND V; RICHARD I; BRENGUIER L; CHUMAKOV I; COHEN D; BECKMANN JS
      TARGETED DEVELOPMENT OF MICROSATELLITE MARKERS FROM INTER-ALU AMPLIFICATION OF YAC CLONES

      Genomics
    90. FOUGEROUSSE F; BROUX O; RICHARD I; ALLAMAND V; DESOUZA AP; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; ROUDAUT C; CHIANNIKULCHAI N; HILLAIRE D; BUI H; CHUMAKOVV I; WEISSENBACH J; CHERIF D; COHEN D; BECKMANN JS
      TOWARDS THE IDENTIFICATION OF A GENE FOR LGMD2

      Cytogenetics and cell genetics
    91. DESOUZA AP; ALLAMAND V; RICHARD I; BRENGUIER L; CHUMAKOV I; COHEN D; BECKMANN JS
      TARGETED DEVELOPMENT OF MICROSATELLITE MARKERS FROM INTER-ALU AMPLIFICATION OF YAC CLONES

      Cytogenetics and cell genetics
    92. RICHARD I; BROUX O; CHIANNIKULCHAI N; FOUGEROUSSE F; ALLAMAND V; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; ROUDAUT C; POLYMEROPOULOS M; SCHULTZ R; COHEN D; BECKMANN JS
      REGIONAL LOCALIZATION OF HUMAN-CHROMOSOME-15 LOCI

      Cytogenetics and cell genetics
    93. BECKMANN JS; YE YZ; ANDERSON PG; CHEN J; ACCAVITTI MA; TARPEY MM; WHITE CR
      EXTENSIVE NITRATION OF PROTEIN TYROSINES IN HUMAN ATHEROSCLEROSIS DETECTED BY IMMUNOHISTOCHEMISTRY

      Biological chemistry Hoppe-Seyler
    94. 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
    95. FARDEAU M; JACKSON CE; RICHARD H; TISHFIELD J; MIGNARD C; FEINGOLD N; TOME FMS; BECKMANN JS; HILLAIRE D
      LIMB-GIRDLE MUSCULAR-DYSTROPHY - PHENOTYPIC AND GENOTYPIC COMPARISON BETWEEN AFFECTED FAMILIES IN AMISH AND REUNION-ISLAND COMMUNITIES

      Neurology
    96. VAXILLAIRE M; VIONNET N; VIGOUROUX C; SUN F; ESPINOSA R; LEBEAU MM; STOFFEL M; LEHTO M; BECKMANN JS; DETHEUX M; PASSA P; COHEN D; VANSCHAFTINGEN E; VELHO G; BELL GI; FROGUEL P
      SEARCH FOR A 3RD SUSCEPTIBILITY GENE FOR MATURITY-ONSET DIABETES OF THE YOUNG - STUDIES WITH 11 CANDIDATE GENES

      Diabetes
    97. HENGSTENBERG C; CHARRON P; ISNARD R; BECKMANN JS; FETLER L; DESNOS M; HAGEGE A; BOUHOUR JB; SOURIANT G; DUBOURG O; SCHWARTZ K; KOMAJDA M
      DEMONSTRATION OF A 5TH DISEASE LOCUS IN F AMILIAL HYPERTROPHIC CARDIOMYOPATHY

      Archives des maladies du coeur et des vaisseaux
    98. CARRIER L; HENGSTENBERG C; BECKMANN JS; GUICHENEY P; DUFOUR C; BERCOVICI J; DAUSSE E; BEREBBIBERTRAND I; WISNEWSKY C; PULVENIS D; FETLER L; VIGNAL A; WEISSENBACH J; HILLAIRE D; FEINGOLD J; BOUHOUR JB; HAGEGE A; DESNOS M; ISNARD R; DUBOURG O; KOMAJDA M; SCHWARTZ K
      MAPPING OF A NOVEL GENE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TO CHROMOSOME-11

      Nature genetics
    99. 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
    100. BECKMANN JS; TOMFOHRDE J; BARNES RI; WILLIAMS M; BROUX O; RICHARD I; WEISSENBACH J; BOWCOCK AM
      A LINKAGE MAP OF HUMAN-CHROMOSOME-15 WITH AN AVERAGE RESOLUTION OF 2 CM AND CONTAINING 55 POLYMORPHIC MICROSATELLITES

      Human molecular genetics


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Documento generato il 26/05/20 alle ore 12:47:33