Elisa DE LA CRUZ

Publications

Article dans une revue (14)

&lt;i&gt;MYH7&lt;/i&gt; -related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort Marie Bahout,Gianmarco Severa,Emna Kamoun,Françoise Bouhour,Antoine Pegatet al. Journal of Neurology, Neurosurgery and Psychiatry, 2025, 96 (5), pp.453-461. ⟨10.1136/jnnp-2024-334263⟩ Article dans une revue hal-04761813v1
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry Benoît Sanson,Abderhmane Slioui,Jérémy Garcia,Lori Klouvi,Julie Lejeuneet al. Orphanet Journal of Rare Diseases, 2025, 20 (1), pp.470. ⟨10.1186/s13023-025-03877-z⟩ Article dans une revue hal-05252178v1
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. L. Gérard,M. Delourme,C. Tardy,B. Ganne,P. Perrinet al. European Journal of Human Genetics, 2024, European Journal of Human Genetics, ⟨10.1038/s41431-024-01781-x⟩ Article dans une revue hal-04918684v1
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments Emmanuelle Salort-Campana,Guilhem Solé,Armelle Magot,Céline Tard,Jean-Baptiste Nouryet al. Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.24. ⟨10.1186/s13023-023-03008-6⟩ Article dans une revue hal-04667757v1
Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition Vincent Huin,David Blum,Violette Delforge,E. Cailliau,S. Djeziriet al. Neurobiology of Disease, 2024, Neurobiology of Disease, 199, pp.106603. ⟨10.1016/j.nbd.2024.106603⟩ Article dans une revue hal-04684979v1
Ultrasensitive Digital Immunoassays for SOD1 Conformation in Amyotrophic Lateral Sclerosis Lisa Morichon,Christophe Hirtz,Laurent Tiers,Alexandre Mezghrani,Cédric Raoulet al. Bioanalysis, 2023, 15 (15), pp.927-936. ⟨10.4155/bio-2023-0103⟩ Article dans une revue hal-04650869v1
Serum neurofilament light chain cut‐off definition for clinical diagnosis and prognosis of amyotrophic lateral sclerosis Mehdi Brousse,Constance Delaby,Elisa de la Cruz,Jens Kuhle,Pascal Benkertet al. European Journal of Neurology, 2023, 30 (7), pp.1919-1927. ⟨10.1111/ene.15813⟩ Article dans une revue hal-04702161v1
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS C. Guissart,E. de La Cruz,O. Flabeau,A. M. Grapperon,G. Corazzaet al. Journal of Neurology, Neurosurgery and Psychiatry, 2023, 95 (3), pp.288-290. ⟨10.1136/jnnp-2023-331753⟩ Article dans une revue inserm-04660167v1
Therapeutic tools for familial ALS William Camu,Elisa de la Cruz,Florence Esselin Revue Neurologique, 2023, 179 (1-2), pp.49-53. ⟨10.1016/j.neurol.2022.10.001⟩ Article dans une revue hal-05119016v1
Spatio-temporal clustering of amyotrophic lateral sclerosis in France: A population-based study Farid Boumediene,Benoît Marin,Jaime Luna,Vincent Bonneterre,William Camuet al. European Journal of Epidemiology, 2022, ⟨10.1007/s10654-022-00904-2⟩ Article dans une revue hal-03832282v1
Repeated neurofilament light chain measurements did not capture Riluzole therapeutic effect in amyotrophic lateral sclerosis patients Florence Esselin,Elisa de la Cruz,Christophe Hirtz,Laurent Tiers,Sébastien Alphanderyet al. CNS Neuroscience & Therapeutics, 2022, 28 (10), pp.1532-1538. ⟨10.1111/cns.13894⟩ Article dans une revue hal-04471223v1
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration Sarah Opie-Martin,Alfredo Iacoangeli,Simon D Topp,Olubunmi Abel,Keith Maylet al. Nature Communications, 2022, 13 (1), pp.6901. ⟨10.1038/s41467-022-34620-y⟩ Article dans une revue hal-04312742v1
Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case Elisa de La Cruz,Claire Guissart,Florence Esselin,Anne Polge,Nicolas Pageotet al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021, pp.1-4. ⟨10.1080/21678421.2021.1990344⟩ Article dans une revue hal-03625884v1
Reversible sub-acute motor neuron syndrome after mushroom intoxication masquerading as amyotrophic lateral sclerosis Emmeline Lagrange,Elisa de la Cruz,Florence Esselin,Jean-Paul Vernoux,Nicolas Pageotet al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021, 23 (7-8), pp.496-499. ⟨10.1080/21678421.2021.2008453⟩ Article dans une revue hal-03606204v1

Communication dans un congrès (2)

Contribution of neutrophils extracellular DNA traps to Amyotrophic Lateral Sclerosis pathogenesis Caroline Ritacco,Véronique Brugioti,Désiré Challuau,Elisa de la Cruz,Florence Esselinet al. 10ème journée de la recherche sur la SLA et maladies du neurone moteur, Oct 2024, Paris, France Communication dans un congrès hal-04916322v1
LE POISSON-ZÈBRE : UNE AIDE RAPIDE À L’INTERPRÉTATION DES VARIANTS RARES DANS LA SLA Arthur Forget,Aleksandra Chudinova,Mireille Rossel,Nicolas Pageot,Audrey Gabelle-Deloustalet al. 8ème journée de la recherche sur la SLA et maladies du neurone moteur, Oct 2022, Paris, France Communication dans un congrès hal-04916241v1