Elisa DE LA CRUZ

14
Documents

Publications

Publications

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<i>MYH7</i> -related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort

Marie Bahout , Gianmarco Severa , Emna Kamoun , Françoise Bouhour , Antoine Pegat et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2025, 96 (5), pp.453-461. ⟨10.1136/jnnp-2024-334263⟩
Article dans une revue hal-04761813 v1
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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. Perrin et al.
European Journal of Human Genetics, 2024, European Journal of Human Genetics, ⟨10.1038/s41431-024-01781-x⟩
Article dans une revue hal-04918684 v1
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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 Noury et al.
Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.24. ⟨10.1186/s13023-023-03008-6⟩
Article dans une revue hal-04667757 v1
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Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition

Vincent Huin , David Blum , Violette Delforge , E. Cailliau , S. Djeziri et al.
Neurobiology of Disease, 2024, Neurobiology of Disease, 199, pp.106603. ⟨10.1016/j.nbd.2024.106603⟩
Article dans une revue hal-04684979 v1

Ultrasensitive Digital Immunoassays for SOD1 Conformation in Amyotrophic Lateral Sclerosis

Lisa Morichon , Christophe Hirtz , Laurent Tiers , Alexandre Mezghrani , Cédric Raoul et al.
Bioanalysis, 2023, 15 (15), pp.927-936. ⟨10.4155/bio-2023-0103⟩
Article dans une revue hal-04650869 v1
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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 Benkert et al.
European Journal of Neurology, 2023, 30 (7), pp.1919-1927. ⟨10.1111/ene.15813⟩
Article dans une revue hal-04702161 v1

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. Corazza et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2023, 95 (3), pp.288-290. ⟨10.1136/jnnp-2023-331753⟩
Article dans une revue inserm-04660167 v1
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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 Alphandery et al.
CNS Neuroscience & Therapeutics, 2022, 28 (10), pp.1532-1538. ⟨10.1111/cns.13894⟩
Article dans une revue hal-04471223 v1

Spatio-temporal clustering of amyotrophic lateral sclerosis in France: A population-based study

Farid Boumédiene , Benoît Marin , Jaime Luna , Vincent Bonneterre , William Camu et al.
European Journal of Epidemiology, 2022, ⟨10.1007/s10654-022-00904-2⟩
Article dans une revue hal-03832282 v1
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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 Mayl et al.
Nature Communications, 2022, 13 (1), pp.6901. ⟨10.1038/s41467-022-34620-y⟩
Article dans une revue hal-04312742 v1

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 Pageot et al.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021, pp.1-4. ⟨10.1080/21678421.2021.1990344⟩
Article dans une revue hal-03625884 v1

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 Pageot et al.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021, 23 (7-8), pp.496-499. ⟨10.1080/21678421.2021.2008453⟩
Article dans une revue hal-03606204 v1

Contribution of neutrophils extracellular DNA traps to Amyotrophic Lateral Sclerosis pathogenesis

Caroline Ritacco , Véronique Brugioti , Désiré Challuau , Elisa de la Cruz , Florence Esselin et al.
10ème journée de la recherche sur la SLA et maladies du neurone moteur, Oct 2024, Paris, France
Communication dans un congrès hal-04916322 v1

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-Deloustal et al.
8ème journée de la recherche sur la SLA et maladies du neurone moteur, Oct 2022, Paris, France
Communication dans un congrès hal-04916241 v1