Kolexia
Amador Ruiz Maria Del Mar Neurologie
Amador Ruiz Maria Del Mar
Neurologie
Hôpital Pitie Salpetriere
Paris, France
61 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Sclérose latérale amyotrophique Sclérose Maladies du motoneurone Démence frontotemporale Démence Xanthomatose Spasticité musculaire Xanthomatose cérébrotendineuse Diarrhée

Collaborateurs

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Salachas Francois
Salachas Francois
Hôpital Pitie Salpetriere, Paris, France
Le Forestier Nadine
Le Forestier Nadine
Hôpital Pitie Salpetriere, Paris, France
Lenglet Timothee
Lenglet Timothee
Hôpital Pitie Salpetriere, Paris, France
Bruneteau Gaelle
Bruneteau Gaelle
Hôpital Pitie Salpetriere, Paris, France

Industries

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B3TSI
2 collaboration(s)
Dernière en 2022
Merz
2 collaboration(s)
Dernière en 2023
EXAFIELD
1 collaboration(s)
Dernière en 2023
42 market research
1 collaboration(s)
Dernière en 2023

Dernières activités

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Heterozygous p.Leu39del is a major cause of slow-progressing juvenile ALS.
Journal of neurology, neurosurgery, and psychiatry   24 novembre 2023
Quantitative brainstem and spinal MRI in amyotrophic lateral sclerosis: implications for predicting noninvasive ventilation needs.
Journal of neurology   01 novembre 2023
Pearls & Oy-sters: Spinal Cord Candidiasis Linked to CARD9 Deficiency Masquerading as a Longitudinally Extensive Transverse Myelitis.
Neurology   06 juillet 2022
Predictive genetic testing for Motor neuron disease: time for a guideline?
European journal of human genetics : EJHG   05 avril 2022
Clinical trials in pediatric ALS: a TRICALS feasibility study.
Amyotrophic lateral sclerosis & frontotemporal degeneration   16 février 2022
Questioning the causality of HTT CAG-repeat expansions in FTD/ALS.
Neuron   12 juillet 2021
New advances in Amyotrophic Lateral Sclerosis genetics: Towards gene therapy opportunities for familial and young cases.
Revue neurologique   31 mars 2021
Impact of a frequent nearsplice variant in amyotrophic lateral sclerosis: optimising genetic screening for gene therapy opportunities.
Journal of neurology, neurosurgery, and psychiatry   30 mars 2021
Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study.
Journal of neurology   02 janvier 2021
Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.
Neurology. Genetics   24 décembre 2020