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	Pour les 158 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 3 4 5 6 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Andoni Echaniz-Laguna , Anne-Sophie Nicot , Sophie Carré , Jérôme Franques , Christine Tranchant , et al. Neuromuscular Disorders, 2007, 17 (11-12), pp.955-959. ⟨10.1016/j.nmd.2007.06.467⟩ Article dans une revue istex hal-00207313v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		CXorf6 is a causative gene for hypospadias. Maki Fukami , Yuka Wada , Kanako Miyabayashi , Ichizo Nishino , Tomonobu Hasegawa , et al. Nature Genetics, 2006, 38 (12), pp.1369-71. ⟨10.1038/ng1900⟩ Article dans une revue hal-00187913v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Hong Joo Kim , Payam Mohassel , Sandra Donkervoort , Lin Guo , Kevin O’donovan , et al. Nature Communications, 2022, 13 (1), pp.2306. ⟨10.1038/s41467-022-30015-1⟩ Article dans une revue hal-03978696v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. Maki Fukami , Yuka Wada , Michiyo Okada , Fumiko Kato , Noriyuki Katsumata , et al. Journal of Biological Chemistry, 2008, 283 (9), pp.5525-32. ⟨10.1074/jbc.M703289200⟩ Article dans une revue hal-00283078v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice Valentina Lionello , Anne-Sophie Nicot , Maxime Sartori , Christine Kretz , Pascal Kessler , et al. Science Translational Medicine, 2019, 11 (484), pp.eaav1866. ⟨10.1126/scitranslmed.aav1866⟩ Article dans une revue hal-02388606v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		INEX-MED: a Knowledge Graph to explore and link heterogeneous bio-medical data Maxime Folschette , Kirsley Chennen , Alban Gaignard , Richard Redon , Hala Skaf-Molli , et al. JOBIM 2019, Jul 2019, Nantes, France Communication dans un congrès hal-02330809v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis Valérie Biancalana , Jocelyn Laporte Journal of Neuromuscular Diseases, 2015, 2 (3), pp.193-203. ⟨10.3233/JND-150092⟩ Article dans une revue hal-03831454v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy Xènia Massana Munoz , Suzie Buono , Pascale Koebel , Jocelyn Laporte , Belinda Cowling Human Molecular Genetics, 2019, 28 (24), pp.4067-4077. ⟨10.1093/hmg/ddz249⟩ Article dans une revue hal-03677823v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome Georges Peche , Coralie Spiegelhalter , Roberto Silva Rojas , Jocelyn Laporte , Johann Böhm Neuropathology, 2020, 40 (6), pp.559-569. ⟨10.1111/neup.12692⟩ Article dans une revue hal-03665607v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances Raquel Gómez-Oca , Belinda Cowling , Jocelyn Laporte International Journal of Molecular Sciences, 2021, 22 (21), pp.11377. ⟨10.3390/ijms222111377⟩ Article dans une revue hal-03613312v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region Ling Hu , Jocelyn Laporte , Wolfram Kress , Petra Kioschis , Renate Siebenhaar , et al. Human Molecular Genetics, 1996, 5 (1), pp.139-143. ⟨10.1093/hmg/5.1.139⟩ Article dans une revue hal-03832780v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation K Claeys , T Maisonobe , Johann Böhm , Jocelyn Laporte , M Hezode , et al. Neurology, 2010, 74 (6), pp.519-521. ⟨10.1212/WNL.0b013e3181cef7f9⟩ Article dans une revue hal-04087155v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice Hichem Tasfaout , Suzie Buono , Shuling Guo , Christine Kretz , Nadia Messaddeq , et al. Nature Communications, 2017, 8, ⟨10.1038/ncomms15661⟩ Article dans une revue hal-03676403v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy Johann Bohm , Xavière Lornage , Frédéric Chevessier , Catherine Birck , Simona Zanotti , et al. Acta Neuropathologica, 2017, 135, pp.149-151. ⟨10.1007/s00401-017-1775-x⟩ Article dans une revue hal-03663164v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Tamoxifen improves muscle structure and function of Bin1 - and Dnm2 -related centronuclear myopathies Charlotte Gineste , Alix Simon , Marie Braun , David Reiss , Jocelyn Laporte Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac489⟩ Article dans une revue hal-04076621v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model Qifei Li , Jasmine Lin , Jeffrey J. Widrick , Shiyu Luo , Gu Li , et al. JCI Insight, 2022, 7 (15), ⟨10.1172/jci.insight.157336⟩ Article dans une revue hal-04219143v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients Catherine Koch , Suzie Buono , Alexia Menuet , Anne Robé , Sarah Djeddi , et al. Molecular Therapy - Methods and Clinical Development, 2020, 17, pp.1178-1189. ⟨10.1016/j.omtm.2020.04.022⟩ Article dans une revue hal-03668015v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine Macarena Cabrera-Serrano , Fabiola Mavillard , Valerie Biancalana , Eloy Rivas , Bharti Morar , et al. Neurology, 2018, 91 (4), pp.339-348. ⟨10.1212/WNL.0000000000005862⟩ Article dans une revue hal-03671919v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores Sandra Donkervoort , Carl E. Kutzner , Ying Hu , Xavière Lornage , John Rendu , et al. American Journal of Human Genetics, 2020, 107 (6), pp.1078-1095. ⟨10.1016/j.ajhg.2020.11.002⟩ Article dans une revue hal-03668017v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies Matteo Garibaldi , John Rendu , Julie Brocard , Emmanuelle Lacène , Julien Fauré , et al. Acta Neuropathologica Communications, 2019, 7 (3), ⟨10.1186/s40478-018-0655-5⟩ Article dans une revue hal-01973947v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice Roberto Silva Rojas , Susan Treves , Hugues Jacobs , Pascal Kessler , Nadia Messaddeq , et al. Human Molecular Genetics, 2019, 28 (10), pp.1579-1593. ⟨10.1093/hmg/ddy446⟩ Article dans une revue hal-03677813v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy Johann Böhm , Frédéric Chevessier , André Maues de Paula , Catherine Koch , Shahram Attarian , et al. American Journal of Human Genetics, 2013, 92 (2), pp.271-278. ⟨10.1016/j.ajhg.2012.12.007⟩ Article dans une revue hal-01610022v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Reducing dynamin 2 expression rescues X-linked centronuclear myopathy Belinda S Cowling , Thierry Chevremont , Ivana Prokic , Christine Kretz , Arnaud Ferry , et al. Journal of Clinical Investigation, 2014, 124 (3), pp.1350-1363. ⟨10.1172/JCI71206⟩ Article dans une revue hal-01329329v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers Teresinha Evangelista , Xavière Lornage , Pierre Carlier , Guillaume Bassez , Guy Brochier , et al. Journal of Neurology, Neurosurgery and Psychiatry, 2020, 79 (8), pp.908-914. ⟨10.1093/jnen/nlaa052⟩ Article dans une revue hal-03664347v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.] Anne Toussaint , Anne-Sophie Nicot , Jean-Louis Mandel , Jocelyn Laporte Médecine/Sciences, 2007, 23 (12), pp.1080-1082 Article dans une revue inserm-00203227v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA Xiuqing Zhang , Huanming Yang , Morten J. Corydon , Xiaoxiao Zhang , Soren Pedersen , et al. Genomics, 1999, 57 (1), pp.144-151. ⟨10.1006/geno.1999.5741⟩ Article dans une revue istex hal-04033187v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking. Canhong Cao , Jonathan M. Backer , Jocelyn Laporte , Edward J. Bedrick , Angela Wandinger-Ness Molecular Biology of the Cell, 2008, 19 (8), pp.3334-46. ⟨10.1091/mbc.E08-04-0367⟩ Article dans une revue inserm-00311079v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Valérie Tosch , Holger M Rohde , Hélène Tronchère , Edmar Zanoteli , Nancy Monroy , et al. Human Molecular Genetics, 2006, 15 (21), pp.3098-106. ⟨10.1093/hmg/ddl250⟩ Article dans une revue hal-00188169v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy Yon Andoni Echaniz-Laguna , Xavière Lornage , Beatrice Lannes , Raphael Schneider , Guillaume Bierry , et al. Acta Neuropathologica, 2017, 134 (1), pp.163-165. ⟨10.1007/s00401-017-1724-8⟩ Article dans une revue hal-03677795v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical, histological, and genetic characterization of PYROXD1-related myopathy Xavière Lornage , Vanessa Schartner , Inès Balbueno , Valérie Biancalana , Tracey Willis , et al. Acta Neuropathologica Communications, 2019, 7, pp.138. ⟨10.1186/s40478-019-0781-8⟩ Article dans une revue hal-02278850v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

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Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

CXorf6 is a causative gene for hypospadias.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

INEX-MED: a Knowledge Graph to explore and link heterogeneous bio-medical data

Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis

Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

Tamoxifen improves muscle structure and function of Bin1 - and Dnm2 -related centronuclear myopathies

Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers

[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.]

Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA

Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking.

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

Clinical, histological, and genetic characterization of PYROXD1-related myopathy