Publications by authors named "Pascal Sabouraud"

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Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Frédérique Audic, Sonia M Dubois, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Pascal Sabouraud

Arch Pediatr· February 2024

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Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQL3.0DMDfv).
Elisabeth Wallach, Virginie Ehlinger, Maelle Biotteau, Ulrike Walther-Louvier, Yann Péréon, Pascal Sabouraud

BMC Pediatr· November 2023

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Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients.
Pierre Meyer, Cécile Notarnicola, Albano C Meli, Stefan Matecki, Gérald Hugon, Pascal Sabouraud

Int J Mol Sci· November 2021

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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
Silvia Torelli, Domenic Scaglioni, Valentina Sardone, Matthew J Ellis, Joana Domingos, Pascal Sabouraud

J Neuropathol Exp Neurol· October 2021

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International retrospective natural history study of -related congenital muscular dystrophy.
Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Pascal Sabouraud

Brain Commun· July 2021

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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Pascal Sabouraud

Orphanet J Rare Dis· June 2020

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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.
Marie Hully, Christine Barnerias, Delphine Chabalier, Sophie Le Guen, Virginie Germa, Pascal Sabouraud

Front Pediatr· February 2020

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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Frédéric Anselme, Thomas Gossios, Pascal Sabouraud

Circulation· July 2019

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Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.
Pascal Sabouraud, Audrey Riquet, Marie-Aude Spitz, Kumaran Deiva, Sona Nevsimalova

Eur J Paediatr Neurol· May 2019

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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Emmanuelle Lagrue, Céline Dogan, Marie De Antonio, Frédérique Audic, Nathalie Bach, Pascal Sabouraud

Neurology· February 2019

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Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
Xavière Lornage, Pascal Sabouraud, Béatrice Lannes, Dominique Gaillard, Raphaël Schneider

J Neuromuscul Dis· November 2018

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Early Onset of Sleep-Disordered Breathing in Two Children With -Related Myopathies.
Mathilde Viprey, Ha Trang, Michaël Pomedio, Katia Bessaci-Kabouya, Pascal Sabouraud

J Clin Sleep Med· September 2017

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Pascal Sabouraud

Orphanet J Rare Dis· March 2016

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Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.
Laurent Servais, Marie Montus, Caroline Le Guiner, Rabah Ben Yaou, Mélanie Annoussamy, Pascal Sabouraud

J Neuromuscul Dis· September 2015

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Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
Andoni Echaniz-Laguna, Odile Dubourg, Pierre Carlier, Robert-Yves Carlier, Pascal Sabouraud

Neurology· May 2014

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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Camille Leroy, Emilie Landais, Sylvain Briault, Albert David, Olivier Tassy, Pascal Sabouraud

Eur J Hum Genet· June 2013

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PRRT2 mutations cause hemiplegic migraine.
Florence Riant, Emmanuel Roze, Cecile Barbance, Aurélie Méneret, Lucie Guyant-Maréchal, Pascal Sabouraud

Neurology· November 2012

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Moyamoya disease associated with hereditary spherocytosis.
Philippe Vo Van, Pascal Sabouraud, Gratiela Mac, Michel Abely, Nathalie Bednarek

Pediatr Neurol· January 2011

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Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.
Hervé Sartelet, Christine Pietrement, Laure-Hélène Noel, Pascal Sabouraud, Philippe Birembaut

Pathol Res Pract· August 2008

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Midbrain disconnection: an aetiology of severe central neonatal hypotonia.
Nathalie Bednarek, Didier Scavarda, François Mesmin, Pascal Sabouraud, Jacques Motte

Eur J Paediatr Neurol· February 2006

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Familial rectal pain: a familial autonomic disorder as a cause of paroxysmal attacks in the newborn baby.
Nathalie Bednarek, Anne-Sophie Arbuès, Jacques Motte, Pascal Sabouraud, Perrine Plouin

Epileptic Disord· December 2005

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Hereditary sensory neuropathy with spastic paraplegia.
Louisa Kherbaoui-Redouani, Dominique Ploton, Michel Abely, Nathalie Bednarek, Audrey Stourbe, Pascal Sabouraud

Eur J Paediatr Neurol· September 2004

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An unusual case of methyl bromide poisoning.
Guillaume Hoizey, Pierre-François Souchon, Thierry Trenque, Carole Frances, Denis Lamiable, Pascal Sabouraud

J Toxicol Clin Toxicol· December 2002

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