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France Leturcq
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28
Kaplan, Jean-Claude
14
Deburgrave, Nathalie
14
Romero, Norma
13
Urtizberea, Andoni
13
Campbell, Kevin
12
Tomé, Fernando
12
Jeanpierre, Marc
9
Piccolo, Federica
9
Eymard, Bruno
8
Merlini, Luciano
7
Llense, Stéphane
6
Krahn, Martin
6
Bernard, Rafaëlle
5
Béroud, Christophe
5
Beldjord, Cherif
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Geonetwork of France Leturcq (preview)
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All Publications
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2009: Daoud Fatma; Angeard Nathalie; Demerre Bénédicte; Martie Itxaso; Benyaou Rabah; Leturcq France; Cossée Mireille; Deburgrave Nathalie; Saillour Yoann; Tuffery Sylvie; Urtizberea Andoni; Toutain Annick; Echenne Bernard; Frischman Martine; Mayer Michèle; Desguerre Isabelle; Estournet Brigitte; Réveillère Christian; Penisson-Besnier; Cuisset Jean Marie; Kaplan Jean Claude; Héron Delphine; Rivier François; Chelly Jamel
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Human molecular genetics 2009;18(20):3779-94.
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2009: Krahn Martin; Béroud Christophe; Labelle Véronique; Nguyen Karine; Bernard Rafaëlle; Bassez Guillaume; Figarella-Branger Dominique; Fernandez Carla; Bouvenot Julien; Richard Isabelle; Ollagnon-Roman Elisabeth; Bevilacqua Jorge A; Salvo Eric; Attarian Shahram; Chapon Françoise; Pellissier Jean-François; Pouget Jean; Hammouda El Hadi; Laforêt Pascal; Urtizberea Jon Andoni; Eymard Bruno; Leturcq France; Lévy Nicolas
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Human mutation 2009;30(2):E345-75.
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2008: Saillour Yoann; Cossée Mireille; Leturcq France; Vasson Aurélie; Beugnet Caroline; Poirier Karine; Commere Virginie; Sublemontier Sébastien; Viel Marion; Letourneur Franck; Barbot Jean Claude; Deburgrave Nathalie; Chelly Jamel; Bienvenu Thierry
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
Human mutation 2008;29(9):1083-90.
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2008: Urtizberea J Andoni; Bassez Guillaume; Leturcq France; Nguyen Karine; Krahn Martin; Levy Nicolas
Dysferlinopathies.
Neurology India 2008;56(3):289-97.
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2008: Trabelsi Madiha; Kavian Niloufar; Daoud Fatma; Commere Virginie; Deburgrave Nathalie; Beugnet Caroline; Llense Stephane; Barbot Jean Claude; Vasson Aurélie; Kaplan Jean Claude; Leturcq France; Chelly Jamel
Revised spectrum of mutations in sarcoglycanopathies.
European journal of human genetics : EJHG 2008;16(7):793-803.
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2008: Seror P; Krahn M; Laforet P; Leturcq F; Maisonobe T
Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy.
Muscle & nerve 2008;37(3):410-4.
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2008: Manya Hiroshi; Bouchet Céline; Yanagisawa Akiko; Vuillaumier-Barrot Sandrine; Quijano-Roy Susana; Suzuki Yasushi; Maugenre Svetlana; Richard Pascale; Inazu Toshiyuki; Merlini Luciano; Romero Norma B; Leturcq France; Bezier Isabelle; Topaloglu Haluk; Estournet Brigitte; Seta Nathalie; Endo Tamao; Guicheney Pascale
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Neuromuscular disorders : NMD 2008;18(1):45-51.
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2008: Sáenz Amets; Azpitarte Margarita; Armañanzas Rubén; Leturcq France; Alzualde Ainhoa; Inza Iñaki; García-Bragado Federico; De la Herran Gaspar; Corcuera Julián; Cabello Ana; Navarro Carmen; De la Torre Carolina; Gallardo Eduard; Illa Isabel; López de Munain Adolfo
Gene expression profiling in limb-girdle muscular dystrophy 2A.
PloS one 2008;3(11):e3750.
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2007: Krahn M; Pécheux C; Chapon F; Béroud C; Drouin-Garraud V; Laforet P; Romero N B; Penisson-Besnier I; Bernard R; Urtizberea J A; Leturcq F; Lévy N
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
Clinical genetics 2007;72(6):582-92.
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2007: Yanagisawa A; Bouchet C; Van den Bergh P Y K; Cuisset J-M; Viollet L; Leturcq F; Romero N B; Quijano-Roy S; Fardeau M; Seta N; Guicheney P
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Neurology 2007;69(12):1254-60.
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2007: Nguyen Karine; Bassez Guillaume; Krahn Martin; Bernard Rafaelle; Laforêt Pascal; Labelle Véronique; Urtizberea Jon Andoni; Figarella-Branger Dominique; Romero Norma; Attarian Shahram; Leturcq France; Pouget Jean; Lévy Nicolas; Eymard Bruno
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Archives of neurology 2007;64(8):1176-82.
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2007: Ben Yaou R; Toutain A; Arimura T; Demay L; Massart C; Peccate C; Muchir A; Llense S; Deburgrave N; Leturcq F; Litim K E; Rahmoun-Chiali N; Richard P; Babuty D; Récan-Budiartha D; Bonne G
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
Neurology 2007;68(22):1883-94.
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2007: Carmignac Virginie; Salih Mustafa A M; Quijano-Roy Susana; Marchand Sylvie; Al Rayess Molham M; Mukhtar Maowia M; Urtizberea Jon A; Labeit Siegfried; Guicheney Pascale; Leturcq France; Gautel Mathias; Fardeau Michel; Campbell Kevin P; Richard Isabelle; Estournet Brigitte; Ferreiro Ana
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Annals of neurology 2007;61(4):340-51.
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2007: Meune C; Wahbi K; Bécane H M; Laforet P; Eymard B; Leturcq F; Devaux J Y; Weber S; Duboc D
[Early detection of myocardial disease in young patients with Becker's muscular dystrophy asymptomatic from the cardiac point of view: value of myocardial doppler tissue imaging]
Archives des maladies du coeur et des vaisseaux 2007;100(3):189-94.
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2007: Deburgrave Nathalie; Daoud Fatma; Llense Stéphane; Barbot Jean Claude; Récan Dominique; Peccate Cécile; Burghes Arthur H M; Béroud Christophe; Garcia Luis; Kaplan Jean-Claude; Chelly Jamel; Leturcq France
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
Human mutation 2007;28(2):183-95.
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2006: Krahn Martin; Lopez de Munain Adolfo; Streichenberger Nathalie; Bernard Rafaëlle; Pécheux Christophe; Testard Hervé; Pena-Segura José L; Yoldi Eugenia; Cabello Ana; Romero Norma B; Poza Juan J; Bouillot-Eimer Sandrine; Ferrer Xavier; Goicoechea Maria; Garcia-Bragado Federico; Leturcq France; Urtizberea J Andoni; Lévy Nicolas
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Annals of neurology 2006;59(6):905-11.
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2006: Shunchang Sun; Fan Qishi; Huacheng Wu; Leturcq France; Yongjian Song; Bingfeng Zhang; Wen Yu; Deburgrave Nathalie
Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy.
Clinical neurology and neurosurgery 2006;108(4):369-73.
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2006: Krahn Martin; Bernard Rafaelle; Pecheux Christophe; Hammouda El Hadi; Eymard Bruno; Lopez de Munain Adolfo; Cobo Anna Maria; Romero Norma; Urtizberea Andoni; Leturcq France; Levy Nicolas;
Screening of the CAPN3 gene in patients with possible LGMD2A.
Clinical genetics 2006;69(5):444-9.
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2005: Nguyen Karine; Bassez Guillaume; Bernard Rafaëlle; Krahn Martin; Labelle Véronique; Figarella-Branger Dominique; Pouget Jean; Hammouda El Hadi; Béroud Christophe; Urtizberea Andoni; Eymard Bruno; Leturcq France; Lévy Nicolas
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Human mutation 2005;26(2):165.
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2005: Leroux Alena; Leturcq France; Deburgrave Nathalie; Szajnert Marie-France
Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through.
European journal of haematology 2005;74(5):389-95.
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2005: Sáenz A; Leturcq F; Cobo A M; Poza J J; Ferrer X; Otaegui D; Camaño P; Urtasun M; Vílchez J; Gutiérrez-Rivas E; Emparanza J; Merlini L; Paisán C; Goicoechea M; Blázquez L; Eymard B; Lochmuller H; Walter M; Bonnemann C; Figarella-Branger D; Kaplan J C; Urtizberea J A; Martí-Massó J F; López de Munain A
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Brain : a journal of neurology 2005;128(Pt 4):732-42.
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2005: Leturcq France; Kaplan Jean-Claude
[Molecular bases of dystrophinopathies]
Journal de la Société de biologie 2005;199(1):5-11.
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2004: Goyenvalle Aurélie; Vulin Adeline; Fougerousse Françoise; Leturcq France; Kaplan Jean-Claude; Garcia Luis; Danos Olivier
[An opening in Duchenne muscular dystrophy: persistent therapeutic rescue of dystrophin by vectorized antisense mediated exon skipping in mdx mice]
Médecine sciences : M/S 2004;20(12):1163-5.
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2004: Goyenvalle Aurélie; Vulin Adeline; Fougerousse Françoise; Leturcq France; Kaplan Jean-Claude; Garcia Luis; Danos Olivier
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.
Science (New York, N.Y.) 2004;306(5702):1796-9.
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2004: Romero Norma B; Braun Serge; Benveniste Olivier; Leturcq France; Hogrel Jean-Yves; Morris Glenn E; Barois Annie; Eymard Bruno; Payan Christine; Ortega Véronique; Boch Anne-Laure; Lejean Lise; Thioudellet Christine; Mourot Brigitte; Escot Christophe; Choquel Aurore; Recan Dominique; Kaplan Jean-Claude; Dickson George; Klatzmann David; Molinier-Frenckel Valérie; Guillet Jean-Gérard; Squiban Patrick; Herson Serge; Fardeau Michel
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.
Human gene therapy 2004;15(11):1065-76.
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2004: Meune C; Pascal O; Bécane H M; Héloire F; Christoforou D; Laforet P; Eymard B; Gueret P; Leturcq F; Recan D; Devaux J Y; Weber S; Duboc D
Reliable detection of early myocardial dysfunction by tissue Doppler echocardiography in Becker muscular dystrophy.
Heart (British Cardiac Society) 2004;90(8):947-8.
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2004: Sun Shunchang; Fan Qishi; Wu Huacheng; Leturcq France; Zhang Bingfeng; Yu Wen; Deburgrave Nathalie; Liu Ming; Song Yongjian
[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree]
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2004;21(2):128-31.
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2004: Canki-Klain Nina; Milic Astrid; Kovac Biserka; Trlaja Anuska; Grgicevic Damir; Zurak Niko; Fardeau Michel; Leturcq France; Kaplan Jean-Claude; Urtizberea J Andoni; Politano Luisa; Piluso Giulio; Feingold Josue
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
American journal of medical genetics. Part A 2004;125A(2):152-6.
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2004: Béroud Christophe; Carrié Alain; Beldjord Chérif; Deburgrave Nathalie; Llense Stéphane; Carelle Nadège; Peccate Cécile; Cuisset Jean Marie; Pandit Florence; Carré-Pigeon Frédérique; Mayer Michèle; Bellance Rémi; Récan Dominique; Chelly Jamel; Kaplan Jean Claude; Leturcq France
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
Neuromuscular disorders : NMD 2004;14(1):10-8.
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2001: Romero N B; De Lonlay P; Llense S; Leturcq F; Touati G; Urtizberea J A; Saudubray J M; Munnich A; Kaplan J C; Récan D
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene.
Neuromuscular disorders : NMD 2001;11(5):494-8.
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2000: Canki-Klain N; Récan D; Milicic D; Llense S; Leturcq F; Deburgrave N; Kaplan J C; Debevec M; Zurak N
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.
Croatian medical journal 2000;41(4):389-95.
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2000: Laradi S; Haj Khelil A; Omri H; Chaieb A; Mahjoub T; Benlimam H; Amri F; Saad A; Miled A; Leturcq F; Ben Chibani J; Beldjord C
[Molecular analysis and prenatal diagnosis of beta-thalassemia: about our experience in central Tunisia]
Annales de biologie clinique 2000;58(4):453-60.
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2000: Merlini L; Kaplan J C; 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 J M; Voit T; Warter J M
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
Neurology 2000;54(5):1075-9.
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1998: Dinçer P; Piccolo F; Leturcq F; Kaplan J C; Jeanpierre M; Topaloglu H
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.
Prenatal diagnosis 1998;18(12):1300-3.
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1998: Urtasun M; Sáenz A; Roudaut C; Poza J J; Urtizberea J A; Cobo A M; Richard I; García Bragado F; Leturcq F; Kaplan J C; Martí Massó J F; Beckmann J S; López de Munain A
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
Brain : a journal of neurology 1998;121 ( Pt 9)():1735-47.
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1998: Manilal S; Recan D; Sewry C A; Hoeltzenbein M; Llense S; Leturcq F; Deburgrave N; Barbot J; Man N; Muntoni F; Wehnert M; Kaplan J; Morris G E
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
Human molecular genetics 1998;7(5):855-64.
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1998: Urtasun M; Poza J J; Gallano P; Lasa A; Sáenz A; Cobo A M; Leturcq F; López de Munain A; García-Bragado F
[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex]
Medicina clínica 1998;110(14):538-42.
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1997: Romero N B; Récan D; Rigal O; Leturcq F; Llense S; Barbot J C; Deburgrave N; Cheval M A; Deniau F; Kaplan J C
A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci.
Neuromuscular disorders : NMD 1997;7(8):499-504.
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1997: Dinçer P; Leturcq F; Richard I; Piccolo F; Yalnizoglu D; de Toma C; Akçören Z; Broux O; Deburgrave N; Brenguier L; Roudaut C; Urtizberea J A; Jung D; Tan E; Jeanpierre M; Campbell K P; Kaplan J C; Beckmann J S; Topaloglu H
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
Annals of neurology 1997;42(2):222-9.
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1997: Carrié A; Piccolo F; Leturcq F; de Toma C; Azibi K; Beldjord C; Vallat J M; Merlini L; Voit T; Sewry C; Urtizberea J A; Romero N; Tomé F M; Fardeau M; Sunada Y; Campbell K P; Kaplan J C; Jeanpierre M
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Journal of medical genetics 1997;34(6):470-5.
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1997: Eymard B; Romero N B; Leturcq F; Piccolo F; Carrié A; Jeanpierre M; Collin H; Deburgrave N; Azibi K; Chaouch M; Merlini L; Thémar-Noël C; Penisson I; Mayer M; Tanguy O; Campbell K P; Kaplan J C; Tomé F M; Fardeau M
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.
Neurology 1997;48(5):1227-34.
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1996: Jeanpierre M; Carrié A; Piccolo F; Leturcq F; Azibi K; De Toma C; Beldjord C; Merlini L; Voit T; Romero N; Sunada Y; Tomé F M; Fardeau M; Campbell K P; Kaplan J C
From adhalinopathies to alpha-sarcoglycanopathies: an overview.
Neuromuscular disorders : NMD 1996;6(6):463-5.
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1996: Piccolo F; Jeanpierre M; Leturcq F; Dodé C; Azibi K; Toutain A; Merlini L; Jarre L; Navarro C; Krishnamoorthy R; Tomé F M; Urtizberea J A; Beckmann J S; Campbell K P; Kaplan J C
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.
Human molecular genetics 1996;5(12):2019-22.
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1996: Oexle K; Herrmann R; Dodé C; Leturcq F; Hübner C; Kaplan J C; Mizuno Y; Ozawa E; Campbell K P; Voit T
Neurosensory hearing loss in secondary adhalinopathy.
Neuropediatrics 1996;27(1):32-6.
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1996: Jung D; Leturcq F; Sunada Y; Duclos F; Tomé F M; Moomaw C; Merlini L; Azibi K; Chaouch M; Slaughter C; Fardeau M; Kaplan J C; Campbell K P
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.
FEBS letters 1996;381(1-2):15-20.
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1995: Malapert D; Recan D; Leturcq F; Degos J D; Gherardi R K
Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.
Journal of neurology, neurosurgery, and psychiatry 1995;59(5):552-4.
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1995: Piccolo F; Roberds S L; Jeanpierre M; Leturcq F; Azibi K; Beldjord C; Carrié A; Récan D; Chaouch M; Reghis A
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
Nature genetics 1995;10(2):243-5.
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1994: Allamand V; Leturcq F; Piccolo F; Jeanpierre M; Azibi K; Roberds S L; Lim L E; Campbell K P; Beckmann J S; Kaplan J C
Adhalin gene polymorphism.
Human molecular genetics 1994;3(12):2269.
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1994: Roberds S L; Leturcq F; Allamand V; Piccolo F; Jeanpierre M; Anderson R D; Lim L E; Lee J C; Tomé F M; Romero N B
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
Cell 1994;78(4):625-33.
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1994: Tihy F; Vogt N; Recan D; Malfoy B; Leturcq F; Coquet M; Serville F; Fontan D; Guillard J M; Kaplan J C
Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter.
Human genetics 1994;93(5):563-7.
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1994: el Kerch F; Sefiani A; Azibi K; Boutaleb N; Yahyaoui M; Bentahila A; Vinet M C; Leturcq F; Bachner L; Beckmann J
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 1994;31(4):342-3.
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1994: Matsumura K; Tomé F M; Collin H; Leturcq F; Jeanpierre M; Kaplan J C; Fardeau M; Campbell K P
Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 1994;4(2):115-20.
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1994: Matsumura K; Burghes A H; Mora M; Tomé F M; Morandi L; Cornello F; Leturcq F; Jeanpierre M; Kaplan J C; Reinert P
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 1994;93(1):99-105.
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1994: Romero N B; Tomé F M; Leturcq F; el Kerch F E; Azibi K; Bachner L; Anderson R D; Roberds S L; Campbell K P; Fardeau M
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1994;317(1):70-6.
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1993: Matsumura K; Nonaka I; Tomé F M; Arahata K; Collin H; Leturcq F; Récan D; Kaplan J C; Fardeau M; Campbell K P
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 1993;53(2):409-16.
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1993: Fardeau M; Matsumura K; Tomé F M; Collin H; Leturcq F; Kaplan J C; Campbell K P
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1993;316(8):799-804.
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1992: Récan D; Chafey P; Leturcq F; Hugnot J P; Vincent N; Tomé F; Collin H; Simon D; Czernichow P; Nicholson L V
Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?
The Journal of clinical investigation 1992;89(2):712-6.
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1990: Rochette J; Dodé C; Leturcq F; Krishnamoorthy R
Level and composition of fetal hemoglobin expression in normal newborn babies are not dependent on beta cluster DNA haplotype.
American journal of hematology 1990;34(3):223-4.
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