Explanipedia

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1 Open

Juliette Ropars, C. Cancès, Rocio García-Uzquiano, Marta Gómez‐García de la Banda, Christine Barnérias , et al. · 2025

Importance Therapeutic advances have transformed the prognosis of spinal muscular atrophy (SMA). Given the lifelong implications of these innovative therapies, comparative data on their efficacy are urgently required. Objective To compare …

Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv) Open

Elisabeth Wallach, Virginie Ehlinger, Maëlle Biotteau, Ulrike Walther‐Louvier, Yann Péréon , et al. · 2023

Confirmatory Validation of the French Version of the Duchenne Muscular Dystrophy Module of the Pediatric Quality of Life Inventory (PedsQL TM 3.0DMDvf) Open

Elisabeth Wallach, Valerie Ehlinger, Maëlle Biotteau, Ulrike Walther‐Louvier, Yann Péréon , et al. · 2022

Duchenne muscular dystrophy (DMD) is a neuromuscular disease that inevitably leads to total loss of autonomy. The new therapeutic strategies aim to both improve survival and optimize quality of life. Evaluating quality of life is neverthel…

Effect of nusinersen after three years of treatment in 61 young children with SMA type 1 or 2: a French real-life observational study Open

Frédérique Audic, Sonia M. Dubois, Julien Durigneux, Christine Barnérias, Arnaud Isapof , et al. · 2022

Background Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder due to an autosomal recessive mutation in the survival motor neuron 1 gene ( SMN1 ) causing degeneration of the anterior horn cells of the spinal cord and re…

Confirmatory Validation of the French Version of the Duchenne Muscular Dystrophy Module of the Pediatric Quality of Life Inventory (PedsQL TM3.0DMDvf) Open

Elisabeth Wallach, Valerie Ehlinger, Maëlle Biotteau, Ulrike Walther‐Louvier, Yann Péréon , et al. · 2022

Duchenne muscular dystrophy (DMD) is a neuromuscular disease that inevitably leads to total loss of autonomy. The new therapeutic strategies aim to both improve survival and optimize quality of life. Evaluating quality of life is neverthel…

Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients Open

Pierre Meyer, Cécile Notarnicola, Albano C. Méli, Stéfan Matecki, Gérald Hugon , et al. · 2021

Duchenne muscular dystrophy (DMD) is characterized by progressive muscle wasting following repeated muscle damage and inadequate regeneration. Impaired myogenesis and differentiation play a major role in DMD as well as intracellular calciu…

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients Open

Silvia Torelli, Dominic Scaglioni, Valentina Sardone, Matthew J. Ellis, Joana Domingos , et al. · 2021

Duchenne muscular dystrophy (DMD) is an incurable disease caused by out-of-frame DMD gene deletions while in frame deletions lead to the milder Becker muscular dystrophy (BMD). In the last decade several antisense oligonucleotides drugs ha…

International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history Open

Rabah Ben Yaou, Pomi Yun, Adele D’Amico, Muntoni Francesco, C. Bönnemann , et al. · 2021

International audience

International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy Open

Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort , et al. · 2021

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these condit…

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study Open

Frédérique Audic, Marta Gómez García de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, J. Durigneux , et al. · 2020

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports Open

Marie Hully, Christine Barnérias, Delphine Chabalier, S. Le Guen, Virginie Germa , et al. · 2020

Spinal muscular atrophy type 1 (SMA-1) is a severe neurodegenerative disorder, which in the absence of curative treatment, leads to death before 1 year of age in most cases. Caring for these short-lived and severely impaired infants requir…

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies Open

Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Frédéric Anselme, Thomas Gossios , et al. · 2019

Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods: We …

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care Open

Marta de Antonio, C. Dogan, B. Eymard, Jack Puymirat, Jacques R.R. Mathieu , et al. · 2019

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3 Open

Pascal Sabouraud, Audrey Riquet, Marie‐Aude Spitz, Kumaran Deiva, Soňa Nevšímalová , et al. · 2019

Reconnaissances des expressions faciales émotionnelles (REFE) et théorie de l'esprit (TdE) chez les enfants porteurs de Neurofibromatose de type 1 (NF1) Open

Valérie Ledoux, Leïla Bensalah, Pascal Sabouraud, Stéphanie Caillies · 2018

Early Onset of Sleep-Disordered Breathing in Two Children With <i>SEPN1</i> -Related Myopathies Open

Mathilde Viprey, Ha Trang, Michaël Pomedio, K. Bessaci-Kabouya, Pascal Sabouraud , et al. · 2017

LE CERNEST : Centre de référence neuromusculaire Grand Est Open

Andoni Echaniz‐Laguna, Christine Tranchant, Vincent Laugel, Cyril Schweitzer, Maud Michaud , et al. · 2016

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open

Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier , et al. · 2016

Additional file 2: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open

Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier , et al. · 2016

Poorly covered amplicons (mean coverage

Additional file 4: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open

Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier , et al. · 2016

POLH founder mutation in Northern Spain. Haplotype analysis was performed on the 6 XP-variant patients coming from Northern Spain with mutations in the POLH gene (chr6:43,543,878-43,588,260[hg19]). Despite a genome wide study using the Ill…

Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open

Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier , et al. · 2016

Spectrum of previously identified variations within the validation cohort of 11 patients. 11 patients already tested by Sanger sequencing of ERCC6(CSB) and/or ERCC8(CSA) genes were explored by targeted NGS strategy. All 63 previously ident…

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype Open

Laurent Servais, Marie Montus, Caroline Le Guiner, Rabah Ben Yaou, M. Annoussamy , et al. · 2015

These prospective and retrospective data demonstrate that DMD-53 patients have clinically more severe phenotypes than other DMD patients.

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