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Items: 42

1.

Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs.

Six E, Guilloux A, Denis A, Lecoules A, Magnani A, Vilette R, Male F, Cagnard N, Delville M, Magrin E, Caccavelli L, Roudaut C, Plantier C, Sobrino S, Gregg J, Nobles CL, Everett JK, Hacein-Bey-Abina S, Galy A, Fischer A, Thrasher AJ, André I, Cavazzana M, Bushman F.

Blood. 2020 Feb 7. pii: blood.2019002350. doi: 10.1182/blood.2019002350. [Epub ahead of print]

PMID:
32040546
2.

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.

Lostal W, Roudaut C, Faivre M, Charton K, Suel L, Bourg N, Best H, Smith JE, Gohlke J, Corre G, Li X, Elbeck Z, Knöll R, Deschamps JY, Granzier H, Richard I.

Sci Transl Med. 2019 Nov 27;11(520). pii: eaat6072. doi: 10.1126/scitranslmed.aat6072.

PMID:
31776291
3.

Extensive multilineage analysis in patients with mixed chimerism after allogeneic transplantation for sickle cell disease: insight into hematopoiesis and engraftment thresholds for gene therapy.

Magnani A, Pondarré C, Bouazza N, Magalon J, Miccio A, Six E, Roudaut C, Arnaud C, Kamdem A, Touzot F, Gabrion A, Magrin E, Couzin C, Fusaro M, André I, Vernant JP, Gluckman E, Bernaudin F, Bories D, Cavazzana M.

Haematologica. 2019 Sep 19. pii: haematol.2019.227561. doi: 10.3324/haematol.2019.227561. [Epub ahead of print]

4.

Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency.

Magnani A, Jouannic JM, Rosain J, Gabrion A, Touzot F, Roudaut C, Kracker S, Mahlaoui N, Toubert A, Clave E, Macintyre EA, Radford-Weiss I, Alcantara M, Magrin E, Ternaux B, Nisoy J, Caccavelli L, Darras AM, Picard C, Blanche S, Cavazzana M.

Blood Adv. 2019 Feb 12;3(3):237-241. doi: 10.1182/bloodadvances.2018023176. No abstract available.

5.

γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.

Dalichaouche I, Sifi Y, Roudaut C, Sifi K, Hamri A, Rouabah L, Abadi N, Richard I.

Muscle Nerve. 2017 Jul;56(1):129-135. doi: 10.1002/mus.25443. Epub 2017 Feb 10.

PMID:
27759885
6.

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I.

Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18.

7.

A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence.

Pryadkina M, Lostal W, Bourg N, Charton K, Roudaut C, Hirsch ML, Richard I.

Mol Ther Methods Clin Dev. 2015 Mar 25;2:15009. doi: 10.1038/mtm.2015.9. eCollection 2015.

8.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M.

Eur J Hum Genet. 2015 Jul;23(7):929-34. doi: 10.1038/ejhg.2014.223. Epub 2014 Oct 29.

9.

Cis-splicing and translation of the pre-trans-splicing molecule combine with efficiency in spliceosome-mediated RNA trans-splicing.

Monjaret F, Bourg N, Suel L, Roudaut C, Le Roy F, Richard I, Charton K.

Mol Ther. 2014 Jun;22(6):1176-1187. doi: 10.1038/mt.2014.35. Epub 2014 Mar 12.

10.

Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy.

Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, Richard I.

Circulation. 2013 Sep 3;128(10):1094-104. doi: 10.1161/CIRCULATIONAHA.113.001340. Epub 2013 Aug 1.

PMID:
23908349
11.

The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5.

Monjaret F, Suel-Petat L, Bourg-Alibert N, Vihola A, Marchand S, Roudaut C, Gicquel E, Udd B, Richard I, Charton K.

Hum Gene Ther Clin Dev. 2013 Jun;24(2):65-76. doi: 10.1089/humc.2012.217. Epub 2013 May 30.

PMID:
23721401
12.

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy.

Lostal W, Bartoli M, Roudaut C, Bourg N, Krahn M, Pryadkina M, Borel P, Suel L, Roche JA, Stockholm D, Bloch RJ, Levy N, Bashir R, Richard I.

PLoS One. 2012;7(5):e38036. doi: 10.1371/journal.pone.0038036. Epub 2012 May 29.

13.

Physiological demand and pacing strategy during the new combined event in elite pentathletes.

Le Meur Y, Dorel S, Baup Y, Guyomarch JP, Roudaut C, Hausswirth C.

Eur J Appl Physiol. 2012 Jul;112(7):2583-93. doi: 10.1007/s00421-011-2235-2. Epub 2011 Nov 12.

PMID:
22081048
14.

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle.

Laure L, Danièle N, Suel L, Marchand S, Aubert S, Bourg N, Roudaut C, Duguez S, Bartoli M, Richard I.

FEBS J. 2010 Oct;277(20):4322-37. doi: 10.1111/j.1742-4658.2010.07820.x. Epub 2010 Sep 22.

15.

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

Charton K, Danièle N, Vihola A, Roudaut C, Gicquel E, Monjaret F, Tarrade A, Sarparanta J, Udd B, Richard I.

Hum Mol Genet. 2010 Dec 1;19(23):4608-24. doi: 10.1093/hmg/ddq388. Epub 2010 Sep 20.

PMID:
20855473
16.

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer.

Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaïb A, Miyake K, Guerchet N, Fougerousse F, McNeil P, Richard I.

Hum Mol Genet. 2010 May 15;19(10):1897-907. doi: 10.1093/hmg/ddq065. Epub 2010 Feb 13.

PMID:
20154340
17.

Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling.

Laure L, Suel L, Roudaut C, Bourg N, Ouali A, Bartoli M, Richard I, Danièle N.

FEBS J. 2009 Feb;276(3):669-84. doi: 10.1111/j.1742-4658.2008.06814.x.

18.

AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency.

Bartoli M, Poupiot J, Vulin A, Fougerousse F, Arandel L, Daniele N, Roudaut C, Noulet F, Garcia L, Danos O, Richard I.

Gene Ther. 2007 May;14(9):733-40. Epub 2007 Mar 1.

PMID:
17330087
19.

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.

Milic A, Daniele N, Lochmüller H, Mora M, Comi GP, Moggio M, Noulet F, Walter MC, Morandi L, Poupiot J, Roudaut C, Bittner RE, Bartoli M, Richard I.

Neuromuscul Disord. 2007 Feb;17(2):148-56. Epub 2007 Jan 22.

PMID:
17236769
20.

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

Rooryck C, Roudaut C, Robine E, Müsebeck J, Arveiler B.

Pigment Cell Res. 2006 Jun;19(3):239-42.

PMID:
16704458
21.

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.

Bartoli M, Roudaut C, Martin S, Fougerousse F, Suel L, Poupiot J, Gicquel E, Noulet F, Danos O, Richard I.

Mol Ther. 2006 Feb;13(2):250-9. Epub 2005 Nov 14.

22.

Bidirectional transcriptional activity of the Pgk1 promoter and transmission ratio distortion in Capn3-deficient mice.

Taveau M, Stockholm D, Marchand S, Roudaut C, Le Bert M, Richard I.

Genomics. 2004 Sep;84(3):592-5.

PMID:
15498466
23.

Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components.

Taveau M, Bourg N, Sillon G, Roudaut C, Bartoli M, Richard I.

Mol Cell Biol. 2003 Dec;23(24):9127-35.

24.

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B.

J Med Genet. 2002 Jun;39(6):415-21. No abstract available.

25.

Calpain 3 mRNA expression in mice after denervation and during muscle regeneration.

Stockholm D, Herasse M, Marchand S, Praud C, Roudaut C, Richard I, Sebille A, Beckmann JS.

Am J Physiol Cell Physiol. 2001 Jun;280(6):C1561-9.

26.

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.

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 JS.

J Cell Biol. 2000 Dec 25;151(7):1583-90.

27.

Calpainopathy-a survey of mutations and polymorphisms.

Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, 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, Lopez de Munain A, Fardeau M, Beckmann JS.

Am J Hum Genet. 1999 Jun;64(6):1524-40.

28.

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.

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.

Muscle Nerve. 1998 Nov;21(11):1493-501.

PMID:
9771675
29.

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A.

Brain. 1998 Sep;121 ( Pt 9):1735-47.

PMID:
9762961
30.

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Akçören 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.

Ann Neurol. 1997 Aug;42(2):222-9.

PMID:
9266733
31.

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

Richard I, Brenguier L, Dinçer 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, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS.

Am J Hum Genet. 1997 May;60(5):1128-38.

32.

Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.

Beckmann JS, Richard I, Broux O, Fougerousse F, Allamand V, Chiannilkulchai N, Lim LE, 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 FM, Cohen D, Jackson CE, Campbell KP, Fardeau M.

Neuromuscul Disord. 1996 Dec;6(6):455-62.

PMID:
9027855
33.

An STS map of the limb girdle muscular dystrophy type 2A region.

Richard I, Roudaut C, Fougerousse F, Chiannilkulchai N, Beckmann JS.

Mamm Genome. 1995 Oct;6(10):754-6. No abstract available.

PMID:
8563179
34.

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al.

Cell. 1995 Apr 7;81(1):27-40.

35.

Regional localization of human chromosome 15 loci.

Richard I, Broux O, Chiannilkulchai N, Fougerousse F, Allamand V, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al.

Genomics. 1994 Oct;23(3):619-27.

PMID:
7851890
36.

Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

Fougerousse F, Broux O, Richard I, Allamand V, de Souza AP, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al.

Hum Mol Genet. 1994 Feb;3(2):285-93.

PMID:
8004096
37.

Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH6).

Fougerousse F, Dufour C, Roudaut C, Beckmann JS.

Hum Mol Genet. 1992 Apr;1(1):64. No abstract available.

PMID:
1301139
38.

Trinucleotide repeat polymorphism at the human insulin-like growth factor I receptor gene (IGF1R).

Meloni R, Fougerousse F, Roudaut C, Beckmann JS.

Nucleic Acids Res. 1992 Mar 25;20(6):1427. No abstract available.

39.

Dinucleotide repeat polymorphism at the human poly (ADP-ribose) polymerase gene (PPOL).

Fougerousse F, Meloni R, Roudaut C, Beckmann JS.

Nucleic Acids Res. 1992 Mar 11;20(5):1166. No abstract available.

40.

Dinucleotide repeat polymorphism at the human liver arginase gene (ARG1).

Meloni R, Fougerousse F, Roudaut C, Beckmann JS.

Nucleic Acids Res. 1992 Mar 11;20(5):1166. No abstract available.

41.

Tetranucleotide repeat polymorphism at the human N-MYC gene (MYCN).

Fougerousse F, Meloni R, Roudaut C, Beckmann JS.

Nucleic Acids Res. 1992 Mar 11;20(5):1165. No abstract available.

42.

Dinucleotide repeat polymorphism at the human hemoglobin alpha-1 pseudo-gene (HBAP1).

Fougerousse F, Meloni R, Roudaut C, Beckmann JS.

Nucleic Acids Res. 1992 Mar 11;20(5):1165. No abstract available.

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