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Isabelle Richard
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34
Beckmann, Jacques
17
Roudaut, Carinne
16
Bourg, Nathalie
15
Fougerousse, Françoise
12
Bartoli, Marc
9
Stockholm, Daniel
7
Marchand, Sylvie
7
Topaloglu, Haluk
6
Urtizberea, Andoni
6
Lefranc, Gérard
6
Fardeau, M
5
Dinçer, Pervin
5
Herasse, M
5
Bashir, Rumaisa
5
Bushby, Kate
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Geonetwork of Isabelle Richard (preview)
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All Publications
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2009: Laure Lydie; Suel Laurence; Roudaut Carinne; Bourg Nathalie; Ouali Ahmed; Bartoli Marc; Richard Isabelle; Danièle Nathalie
Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling.
The FEBS journal 2009;276(3):669-84.
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2008: Benayoun Béatrice; Baghdiguian Stephen; Lajmanovich Alicia; Bartoli Marc; Daniele Nathalie; Gicquel Evelyne; Bourg Nathalie; Raynaud Fabrice; Pasquier Marie-Anne; Suel Laurence; Lochmuller Hanns; Lefranc Gérard; Richard Isabelle
NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(5):1521-9.
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2007: Bartoli M; Poupiot J; Vulin A; Fougerousse F; Arandel L; Daniele N; Roudaut C; Noulet F; Garcia L; Danos O; Richard I
AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency.
Gene therapy 2007;14(9):733-40.
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2007: Milic Astrid; Daniele Nathalie; Lochmüller Hanns; Mora Marina; Comi Giacomo P; Moggio Maurizio; Noulet Fanny; Walter Maggie C; Morandi Lucia; Poupiot Jérôme; Roudaut Carinne; Bittner Reginald E; Bartoli Marc; Richard Isabelle
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
Neuromuscular disorders : NMD 2007;17(2):148-56.
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2007: Fougerousse Francoise; Bartoli Marc; Poupiot Jérôme; Arandel Ludovic; Durand Muriel; Guerchet Nicolas; Gicquel Evelyne; Danos Olivier; Richard Isabelle
Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector.
Molecular therapy : the journal of the American Society of Gene Therapy 2007;15(1):53-61.
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2007: Jaiswal Jyoti K; Marlow Gareth; Summerill Gillian; Mahjneh Ibrahim; Mueller Sebastian; Hill Maria; Miyake Katsuya; Haase Hannelore; Anderson Louise V B; Richard Isabelle; Kiuru-Enari Sari; McNeil Paul L; Simon Sanford M; Bashir Rumaisa
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
Traffic (Copenhagen, Denmark) 2007;8(1):77-88.
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2007: Danièle Nathalie; Richard Isabelle; Bartoli Marc
Ins and outs of therapy in limb girdle muscular dystrophies.
The international journal of biochemistry & cell biology 2007;39(9):1608-24.
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2006: Bartoli Marc; Bourg Nathalie; Stockholm Daniel; Raynaud Fabrice; Delevacque Antony; Han Yang; Borel Perrine; Seddik Kenza; Armande Nasser; Richard Isabelle
A mouse model for monitoring calpain activity under physiological and pathological conditions.
The Journal of biological chemistry 2006;281(51):39672-80.
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2006: Duguez Stéphanie; Bartoli Marc; Richard Isabelle
Calpain 3: a key regulator of the sarcomere?
The FEBS journal 2006;273(15):3427-36.
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2006: Balci Burcu; Aurino Stefania; Haliloglu Göknur; Talim Beril; Erdem Sevim; Akcören Zuhal; Tan Ersin; Caglar Melda; Richard Isabelle; Nigro Vincenzo; Topaloglu Haluk; Dincer Pervin
Calpain-3 mutations in Turkey.
European journal of pediatrics 2006;165(5):293-8.
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2006: Bartoli Marc; Roudaut Carinne; Martin Samia; Fougerousse Françoise; Suel Laurence; Poupiot Jérôme; Gicquel Evelyne; Noulet Fanny; Danos Olivier; Richard Isabelle
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
Molecular therapy : the journal of the American Society of Gene Therapy 2006;13(2):250-9.
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2006: Bartoli M; Poupiot J; Goyenvalle A; Perez N; Garcia L; Danos O; Richard I
Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies.
Gene therapy 2006;13(1):20-8.
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2005: Bartoli Marc; Richard Isabelle
Calpains in muscle wasting.
The international journal of biochemistry & cell biology 2005;37(10):2115-33.
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2005: Stockholm Daniel; Bartoli Marc; Sillon Guillaume; Bourg Nathalie; Davoust Jean; Richard Isabelle
Imaging calpain protease activity by multiphoton FRET in living mice.
Journal of molecular biology 2005;346(1):215-22.
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2004: Taveau Mathieu; Stockholm Daniel; Marchand Sylvie; Roudaut Carinne; Le Bert Marc; Richard Isabelle
Bidirectional transcriptional activity of the Pgk1 promoter and transmission ratio distortion in Capn3-deficient mice.
Genomics 2004;84(3):592-5.
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2003: Taveau Mathieu; Bourg Nathalie; Sillon Guillaume; Roudaut Carinne; Bartoli Marc; Richard Isabelle
Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components.
Molecular and cellular biology 2003;23(24):9127-35.
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2003: Fougerousse Françoise; Gonin Patrick; Durand Muriel; Richard Isabelle; Raymackers Jean-Marc
Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption.
Muscle & nerve 2003;27(5):616-23.
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2002: Féasson L; Stockholm D; Freyssenet D; Richard I; Duguez S; Beckmann J S; Denis C
Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle.
The Journal of physiology 2002;543(Pt 1):297-306.
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2002: Spencer M J; Guyon J R; Sorimachi H; Potts A; Richard I; Herasse M; Chamberlain J; Dalkilic I; Kunkel L M; Beckmann J S
Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(13):8874-9.
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2002: Taveau Mathieu; Stockholm Daniel; Spencer Melissa; Richard Isabelle
Quantification of splice variants using molecular beacon or scorpion primers.
Analytical biochemistry 2002;305(2):227-35.
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2001: Brockington M; Yuva Y; Prandini P; Brown S C; Torelli S; Benson M A; Herrmann R; Anderson L V; Bashir R; Burgunder J M; Fallet S; Romero N; Fardeau M; Straub V; Storey G; Pollitt C; Richard I; Sewry C A; Bushby K; Voit T; Blake D J; Muntoni F
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Human molecular genetics 2001;10(25):2851-9.
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2001: Aoki M; Liu J; Richard I; Bashir R; Britton S; Keers S M; Oeltjen J; Brown H E; Marchand S; Bourg N; Beley C; McKenna-Yasek D; Arahata K; Bohlega S; Cupler E; Illa I; Majneh I; Barohn R J; Urtizberea J A; Fardeau M; Amato A; Angelini C; Bushby K; Beckmann J S; Brown R H
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
Neurology 2001;57(2):271-8.
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2001: Baghdiguian S; Richard I; Martin M; Coopman P; Beckmann J S; Mangeat P; Lefranc G
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.
Journal of molecular medicine (Berlin, Germany) 2001;79(5-6):254-61.
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2001: Stockholm D; Herasse M; Marchand S; Praud C; Roudaut C; Richard I; Sebille A; Beckmann J S
Calpain 3 mRNA expression in mice after denervation and during muscle regeneration.
American journal of physiology. Cell physiology 2001;280(6):C1561-9.
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2000: Richard I; Roudaut C; Marchand S; Baghdiguian S; Herasse M; Stockholm D; Ono Y; Suel L; Bourg N; Sorimachi H; Lefranc G; Fardeau M; Sébille A; Beckmann J S
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.
The Journal of cell biology 2000;151(7):1583-90.
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2000: Argov Z; Sadeh M; Mazor K; Soffer D; Kahana E; Eisenberg I; Mitrani-Rosenbaum S; Richard I; Beckmann J; Keers S; Bashir R; Bushby K; Rosenmann H
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.
Brain : a journal of neurology 2000;123 ( Pt 6)():1229-37.
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2000: Dinçer P; Akçören Z; Demir E; Richard I; Sancak O; Kale G; Ozme S; Karaduman A; Tan E; Urtizberea J A; Beckmann J S; Topaloglu H
A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.
Journal of medical genetics 2000;37(5):361-7.
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2000: Fougerousse F; Bullen P; Herasse M; Lindsay S; Richard I; Wilson D; Suel L; Durand M; Robson S; Abitbol M; Beckmann J S; Strachan T
Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.
Human molecular genetics 2000;9(2):165-73.
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1999: Richard I; Bourg N; Marchand S; Alibert O; Eymard B; van der Kooi A J; Jackson C E; Garcia C; Burgunder J M; Legum C; de Visser M; Fardeau M; Beckmann J S
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies.
Neuromuscular disorders : NMD 1999;9(8):555-63.
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1999: Stockholm D; Barbaud C; Marchand S; Ammarguellat F; Barritault D; Richard I; Beckmann J; Martelly I
Studies on calpain expression during differentiation of rat satellite cells in primary cultures in the presence of heparin or a mimic compound.
Experimental cell research 1999;252(2):392-400.
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1999: Richard I; Roudaut C; Saenz A; Pogue R; Grimbergen J E; Anderson L V; Beley C; Cobo A M; de Diego C; Eymard B; Gallano P; Ginjaar H B; Lasa A; Pollitt C; Topaloglu H; Urtizberea J A; de Visser M; van der Kooi A; Bushby K; Bakker E; Lopez de Munain A; Fardeau M; Beckmann J S
Calpainopathy-a survey of mutations and polymorphisms.
American journal of human genetics 1999;64(6):1524-40.
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1999: Herasse M; Ono Y; Fougerousse F; Kimura E; Stockholm D; Beley C; Montarras D; Pinset C; Sorimachi H; Suzuki K; Beckmann J S; Richard I
Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events.
Molecular and cellular biology 1999;19(6):4047-55.
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1999: Baghdiguian S; Martin M; Richard I; Pons F; Astier C; Bourg N; Hay R T; Chemaly R; Halaby G; Loiselet J; Anderson L V; Lopez de Munain A; Fardeau M; Mangeat P; Beckmann J S; Lefranc G
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A.
Nature medicine 1999;5(5):503-11.
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1998: 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 J S; Miyoshi K; Matsumoto T
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
Muscle & nerve 1998;21(11):1493-501.
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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: 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; Passos-Bueno M R; Moreira E de S; Zatz M; Beckmann J S; Bushby K
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
Nature genetics 1998;20(1):37-42.
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1997: Topaloglu H; Dinçer P; Richard I; Akçören Z; Alehan D; Ozme S; Caglar M; Karaduman A; Urtizberea J A; Beckmann J S
Calpain-3 deficiency causes a mild muscular dystrophy in childhood.
Neuropediatrics 1997;28(4):212-6.
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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: Richard I; Brenguier L; Dinçer P; Roudaut C; Bady B; Burgunder J M; Chemaly R; Garcia C A; Halaby G; Jackson C E; Kurnit D M; Lefranc G; Legum C; Loiselet J; Merlini L; Nivelon-Chevallier A; Ollagnon-Roman E; Restagno G; Topaloglu H; Beckmann J S
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
American journal of human genetics 1997;60(5):1128-38.
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1996: Beckmann J S; Richard I; Broux O; Fougerousse F; Allamand V; Chiannilkulchai N; Lim L E; Duclos F; Bourg N; Brenguier L; Pasturaud P; Quétier F; Roudaut C; Sunada Y; Meyer J; Dinçer P; Lefranc G; Merlini L; Topaloglu H; Tomé F M; Cohen D; Jackson C E; Campbell K P; Fardeau M
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Neuromuscular disorders : NMD 1996;6(6):455-62.
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1996: Fardeau M; Eymard B; Mignard C; Tomé F M; Richard I; Beckmann J S
Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities.
Neuromuscular disorders : NMD 1996;6(6):447-53.
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1996: Restagno G; Romero N; Richard I; Beckmann J S; Pagliano M; Ferrone M; Carbonara A; Merlini L
Prenatal diagnosis of limb-girdle muscular dystrophy type 2A.
Neuromuscular disorders : NMD 1996;6(3):173-6.
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1996: Fardeau M; Hillaire D; Mignard C; Feingold N; Feingold J; Mignard D; de Ubeda B; Collin H; Tome F M; Richard I; Beckmann J
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
Brain : a journal of neurology 1996;119 ( Pt 1)():295-308.
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1995: Lim L E; Duclos F; Broux O; Bourg N; Sunada Y; Allamand V; Meyer J; Richard I; Moomaw C; Slaughter C
Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
Nature genetics 1995;11(3):257-65.
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1995: Richard I; Roudaut C; Fougerousse F; Chiannilkulchai N; Beckmann J S
An STS map of the limb girdle muscular dystrophy type 2A region.
Mammalian genome : official journal of the International Mammalian Genome Society 1995;6(10):754-6.
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1995: Allamand V; Broux O; Richard I; Fougerousse F; Chiannilkulchai N; Bourg N; Brenguier L; Devaud C; Pasturaud P; Pereira de Souza A
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 1995;56(6):1417-30.
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1995: Richard I; Broux O; Allamand V; Fougerousse F; Chiannilkulchai N; Bourg N; Brenguier L; Devaud C; Pasturaud P; Roudaut C
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
Cell 1995;81(1):27-40.
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1995: Chiannilkulchai N; Pasturaud P; Richard I; Auffray C; Beckmann J S
A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.
Human molecular genetics 1995;4(4):717-25.
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1995: Allamand V; Broux O; Bourg N; Richard I; Tischfield J A; Hodes M E; Conneally P M; Fardeau M; Jackson C E; Beckmann J S
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.
Human molecular genetics 1995;4(3):459-63.
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1994: Richard I; Broux O; Chiannilkulchai N; Fougerousse F; Allamand V; Bourg N; Brenguier L; Devaud C; Pasturaud P; Roudaut C
Regional localization of human chromosome 15 loci.
Genomics 1994;23(3):619-27.
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1994: de Souza A P; Allamand V; Richard I; Brenguier L; Beckmann J S
Two dinucleotide repeats tightly linked to D12S91.
Human molecular genetics 1994;3(2):382.
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1994: Allamand V; de Souza A P; Richard I; Brenguier L; Beckmann J S
Dinucleotide repeat polymorphism at D15S221.
Human molecular genetics 1994;3(2):382.
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1994: de Souza A P; Allamand V; Richard I; Brenguier L; Beckmann J S
Three dinucleotide markers on chromosome 21.
Human molecular genetics 1994;3(2):381.
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1994: Fougerousse F; Broux O; Richard I; Allamand V; de Souza A P; Bourg N; Brenguier L; Devaud C; Pasturaud P; Roudaut C
Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.
Human molecular genetics 1994;3(2):285-93.
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1994: de Souza A P; Allamand V; Richard I; Brenguier L; Chumakov I; Cohen D; Beckmann J S
Targeted development of microsatellite markers from inter-Alu amplification of YAC clones.
Genomics 1994;19(2):391-3.
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1994: Joyce C; Fanning L; Malcolm S; Richard I; Broux O; Beckmann J S; Flint T; Kruse T A; Vergnaud G; Cox S A
The EUROGEM map of human chromosome 15.
European journal of human genetics : EJHG 1994;2(3):232-3.
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1993: Richard I; Bourg N; Beckmann J S
Dinucleotide repeat at the D15S129 locus.
Human molecular genetics 1993;2(12):2199.
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1993: Beckmann J S; Tomfohrde J; Barnes R I; Williams M; Broux O; Richard I; Weissenbach J; Bowcock A M
A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites.
Human molecular genetics 1993;2(12):2019-30.
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1993: Richard I; Devaud C; Cherif D; Cohen D; Beckmann J S
The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2), maps to chromosome 5q13.3.
Genomics 1993;18(1):134-6.
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1993: Passos-Bueno M R; Richard I; Vainzof M; Fougerousse F; Weissenbach J; Broux O; Cohen D; Akiyama J; Marie S K; Carvalho A A
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
Journal of medical genetics 1993;30(5):385-7.
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1992: Richard I; Broux O; Hillaire D; Cherif D; Fougerousse F; Cohen D; Beckmann J S
Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy.
Human molecular genetics 1992;1(8):621-4.
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1992: Fougerousse F; Richard I; Broux O; Cohen D; Beckmann J S
Mapping of two chromosome 15 microsatellites.
Genomics 1992;13(3):903-4.
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1991: Beckmann J S; Richard I; Hillaire D; Broux O; Antignac C; Bois E; Cann H; Cottingham R W; Feingold N; Feingold J
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1991;312(4):141-8.
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