Publications by authors named "Isabelle Nelson"

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The key mechanisms associated with the survival of Gulf toadfish, Opsanus beta, when in severe hypoxia.
Anastasiya Plotnikova, Isabelle R Nelson, Shara Y Sookhoo, Jacob M Belkin, Vanessa P Lima

J Fish Biol· November 2025

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Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).
Angèle N Merlet, Emmanuelle Lacène, Isabelle Nelson, Guy Brochier, Clémence Labasse

J Neuropathol Exp Neurol· November 2025

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The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Vicente A Yépez, German Demidov, Kornelia Ellwanger, Steven Laurie, Rebeka Luknárová, Isabelle Nelson

Nat Genet· October 2025

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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Isabelle Nelson

Nat Med· August 2025

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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Isabelle Nelson

Brain· June 2025

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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Isabelle Nelson

Nat Med· February 2025

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Titin copy number variations associated with dominant inherited phenotypes.
Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson

J Med Genet· March 2024

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LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
Tanya Stojkovic, Marion Masingue, Corinne Métay, Norma B Romero, Bruno Eymard, Isabelle Nelson

J Neuromuscul Dis· January 2023

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Isabelle Nelson

Nat Commun· April 2022

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INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Denisa Hathazi, Dan Cox, Adele D'Amico, Giorgio Tasca, Richard Charlton, Isabelle Nelson

Brain· September 2021

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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Sandra Coppens, Alison M Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Isabelle Nelson

Am J Hum Genet· June 2021

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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Sandra Coppens, Alison M Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Isabelle Nelson

Am J Hum Genet· May 2021

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A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Louis M Viollet, Kathryn J Swoboda, Rong Mao, Hunter Best, Youna Ha, Isabelle Nelson

Eur J Med Genet· December 2020

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GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
A Reghan Foley, Yaqun Zou, James E Dunford, Jachinta Rooney, Goutam Chandra, Isabelle Nelson

Ann Neurol· August 2020

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Muscular dystrophy with arrhythmia caused by loss-of-function mutations in .
Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin

Neurol Genet· April 2019

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A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.
Nadine Ame van der Beek, Isabelle Nelson, Roseline Froissart, Thierry Levade, Virginie Garcia

Eur J Hum Genet· March 2019

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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.
Rainiero Ávila-Polo, Edoardo Malfatti, Xavière Lornage, Chrystel Cheraud, Isabelle Nelson

J Neuropathol Exp Neurol· December 2018

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Limb girdle muscular dystrophy due to mutations in .
Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, Thomas Krag, Willem De Ridder, Isabelle Nelson

J Neurol Neurosurg Psychiatry· May 2018

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Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.
Feriel Azibani, Astrid Brull, Ludovic Arandel, Maud Beuvin, Isabelle Nelson

Mol Ther Nucleic Acids· March 2018

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Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy.
Céline Tard, Vincent Tiffreau, Emmanuelle Jaillette, Fabienne Jouen, Isabelle Nelson

Neuropediatrics· December 2017

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Clinical heterogeneity and phenotype/genotype findings in 5 families with deficiency.
Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R Dahlqvist, David Gaist

Neurol Genet· December 2017

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FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.
Esma Ziat, Kamel Mamchaoui, Maud Beuvin, Isabelle Nelson, Feriel Azibani

J Neuromuscul Dis· November 2016

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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Isabelle Nelson

Am J Hum Genet· September 2016

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EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
Elena Gargaun, Andreea Mihaela Seferian, Ruxandra Cardas, Anne-Gaelle Le Moing, Catherine Delanoe, Isabelle Nelson

J Neurol· July 2016

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A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
Rafael De Cid, Rabah Ben Yaou, Carinne Roudaut, Karine Charton, Sylvain Baulande, Isabelle Nelson

Neurology· December 2015

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