Výsledky vyhledávání - "Morgane, Perdomini"

Phenotypic Spectrum of

Autor: Leslie Hotchkiss, Hayes, Morgane, Perdomini, Asli, Aykanat, Casie A, Genetti, Heather L, Paterson, Belinda S, Cowling, Christian, Freitag, Alan H, Beggs

Publikováno v: Neurology. Genetics. 8(6)

Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene,Pediatric and adult patients with suspicion for a CNM diagnosis and confirmed heterozygous pathogenic variants inForty-two patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::70357583783c8380a5d1d2c140673e42
https://pubmed.ncbi.nlm.nih.gov/36324371

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Phenotypic Spectrum ofDNM2-Related Centronuclear Myopathy

Autor: Leslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, Casie A. Genetti, Heather L. Paterson, Belinda S. Cowling, Christian Freitag, Alan H. Beggs

Publikováno v: Neurology Genetics. 8:e200027

Background and ObjectivesCentronuclear myopathy (CNM) due to mutations in the dynamin 2 gene,DNM2, is a rare neuromuscular disease about which little is known. The objective of this study was to describe the range of clinical presentations and subseq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8d1f2cfb5adc10661ec4e6dd99d35f7e
https://doi.org/10.1212/nxg.0000000000200027

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Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

Autor: Ronald G. Crystal, Hélène Puccio, Laurence Reutenauer, Laurent Monassier, Nathalie Cartier, Morgane Perdomini, Nadia Messaddeq, Brahim Belbellaa, Patrick Aubourg

Publikováno v: Nature Medicine; Vol 20

Cardiac failure is the most common cause of mortality in Friedreich's ataxia (FRDA), a mitochondrial disease characterized by neurodegeneration, hypertrophic cardiomyopathy and diabetes. FRDA is caused by reduced levels of frataxin (FXN), an essentia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::431cd332b24d6104d99a4b88195fe763
https://doi.org/10.1038/nm.3510

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0300: Systemic delivery of AAVrh10 expressing frataxin corrects the severe mitochondrial cardiomyopathy of frataxin deficient mice

Autor: Morgane Perdomini, Laurent Monassier, Hélène Puccio, Patrick Aubourg, Brahim Belbellaa

Publikováno v: Archives of Cardiovascular Diseases Supplements. 6

Cardiac failure is the most common cause of mortality in Friedreich ataxia (FRDA), a mitochondrial disease with neurodegeneration, hypertrophic cardiomyopathy and diabetes. FRDA is caused by reduced levels of frataxin (FXN), an essential mitochondria

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1904a640d1182bb005bf64d90479cbf2

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Animal and cellular models of Friedreich ataxia

Autor: Mark A. Pook, Hélène Puccio, Morgane Perdomini, Aurore Hick

Publikováno v: Journal of Neurochemistry; Vol 126

The development and use of animal and cellular models of Friedreich ataxia (FRDA) are essential requirements for the understanding of FRDA disease mechanisms and the investigation of potential FRDA therapeutic strategies. Although animal and cellular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8a0887c9bf02863a798a1a05a40224
https://pubmed.ncbi.nlm.nih.gov/23859342

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