A. Pegat
11 Papers
2 Citations
A. Pegat is an academic researcher. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 2, co-authored 11 publications.
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Papers
Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity
Antonio Farina,Cristina Birzu,Mad-Hélénie Elsensohn,Alberto Picca,Sergio Muñiz-Castrillo,Alberto Vogrig,Macarena Villagrán-García,Nicolás Lundahl Ciano-Petersen,Luca Massacesi,Baptiste Hervier,Sarah Guégan,Nora Kramkimel,Yann Vano,Joe-Elie Salem,Yves Allenbach,Thierry Maisonobe,Souad Assaad,Aurélien Maureille,Perrine Devic,Nicolas Weiss,A. Pegat,Delphine Maucort-Boulch,Damien Ricard,Jérôme Honnorat,Dimitri Psimaras,Bastien Joubert +25 more
TL;DR: In this article , a multi-state Markov model was used to estimate the transition rates between minor disability (mRS <3), severe disability(mRS 3-5), and death (m RS 6), over the study period.
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Arnaud Jacquier,J. Theuriet,Fanny Fontaine,Valentine Mosbach,Nicolas Lacoste,Shams Ribault,Valérie Risson,Julien Carras,Laurent Coudert,Thomas Simonet,Philippe Latour,Tanya Stojkovic,Juliette Piard,Anne Cosson,Gaetan Lesca,Françoise Bouhour,Stéphane Allouche,Hélène Puccio,A. Pegat,Laurent Schaeffer +19 more
TL;DR: In this article , the authors reported a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c.3G>T (p.1Met? ) was identified in the COQ7 gene and the effect of Coenzyme Q10 supplementation in vitro.
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Sylvie Gerber,Lola Lessard,Cécile Rouzier,Samira Ait-El-Mkadem Saadi,Roxana Ameli,Stéphane Thobois,Françoise Bouhour,Josseline Kaplan,Audrey Putoux,A. Pegat,Jean-Michel Rozet +10 more
TL;DR: Gerber et al. as mentioned in this paper reported 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO 1.
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Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
Gorka Fernández-Eulate,J. Theuriet,Christopher J. Record,Giorgia Querin,Marion Masingue,Sarah Leonard-Louis,Anthony Behin,Nadine Le Forestier,A. Pegat,Maud Michaud,Jean-Baptiste Chanson,Aleksandra Nadaj-Pakleza,Céline Tard,Anne-Laure Bedat-Millet,Guilhem Solé,Marco Spinazzi,Emmanuelle Salort-Campana,Andoni Echaniz-Laguna,Vianney Poinsignon,Philippe Latour,Mary M. Reilly,Françoise Bouhour,Tanya Stojkovic +22 more
- 17 Jul 2023
TL;DR: In this paper , the authors describe the clinical and genetic landscape of non-5q SMA and evaluate the performance of neuropathy gene panels in these disorders, including exclusive proximal weakness and associated distal weakness.
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Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
Arnaud Jacquier,J. Theuriet,Shams Ribault,Nicolas Lacoste,A. Pegat,Philippe Latour,Laurent Schaeffer +6 more
TL;DR: Liu et al. as discussed by the authors identified a homozygous variant in the start codon of the main isoform (c.3G>T, MN_016138) of COQ7 gene in a family of three patients affected by dHMN.
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