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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Salort-Campana E, Solé G, Magot A, Tard C, Noury JB, Behin A, De La Cruz E, Boyer F, Lefeuvre C, Masingue M, Debergé L, Finet A, Brison M, Spinazzi M, Pegat A, Sacconi S, Malfatti E, Choumert A, Bellance R, Bedat-Millet AL, Feasson L, Vuillerot C, Jacquin-Piques A, Michaud M, Pereon Y, Stojkovic T, Laforêt P, Attarian S, Cintas P. Salort-Campana E, et al. Among authors: jacquin piques a. Orphanet J Rare Dis. 2024 Jan 24;19(1):24. doi: 10.1186/s13023-023-03008-6. Orphanet J Rare Dis. 2024. PMID: 38268028 Free PMC article.
Changes in Taste Perception in Patients with Minor and Major Cognitive Impairment Linked to Alzheimer's Disease Recorded by Gustatory Evoked Potentials.
El Kadiri W, Perrignon-Sommet M, Delpont B, Graber M, Mohr S, Mouillot T, Devilliers H, Grall S, Lienard F, Georges M, Brindisi MC, Brondel L, Bejot Y, Leloup C, Jacquin-Piques A. El Kadiri W, et al. Among authors: jacquin piques a. J Alzheimers Dis. 2023;96(4):1593-1607. doi: 10.3233/JAD-230270. J Alzheimers Dis. 2023. PMID: 38007646
Hypothalamic Glucose Hypersensitivity-Induced Insulin Secretion in the Obese Zücker Rat Is Reversed by Central Ghrelin Treatment.
Carneiro L, Fenech C, Liénard F, Grall S, Abed B, Haydar J, Allard C, Desmoulins L, Paccoud R, Brindisi MC, Mouillot T, Brondel L, Fioramonti X, Pénicaud L, Jacquin-Piques A, Leloup C. Carneiro L, et al. Among authors: jacquin piques a. Antioxid Redox Signal. 2023 Mar 7. doi: 10.1089/ars.2022.0031. Online ahead of print. Antioxid Redox Signal. 2023. PMID: 36656675
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
Vezain M, Thauvin-Robinet C, Vial Y, Coutant S, Drunat S, Urtizberea JA, Rolland A, Jacquin-Piques A, Fehrenbach S, Nicolas G, Lecoquierre F, Saugier-Veber P. Vezain M, et al. Among authors: jacquin piques a. Hum Genet. 2023 Jan;142(1):125-138. doi: 10.1007/s00439-022-02473-6. Epub 2022 Sep 23. Hum Genet. 2023. PMID: 36138164
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Among authors: jacquin piques a. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
Diabetes Mellitus and Cognition: Pathway Analysis in the MEMENTO Cohort.
Frison E, Proust-Lima C, Mangin JF, Habert MO, Bombois S, Ousset PJ, Pasquier F, Hanon O, Paquet C, Gabelle A, Ceccaldi M, Annweiler C, Krolak-Salmon P, Béjot Y, Belin C, Wallon D, Sauvee M, Beaufils E, Bourdel-Marchasson I, Jalenques I, Chupin M, Chêne G, Dufouil C; MEMENTO Cohort Study Group. Frison E, et al. Neurology. 2021 Aug 24;97(8):e836-e848. doi: 10.1212/WNL.0000000000012440. Epub 2021 Jul 1. Neurology. 2021. PMID: 34210821 Free PMC article.
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q, Vitobello A, Tran Mau-Them F, Duffourd Y, Fromont A, Giroud M, Daubail B, Jacquin-Piques A, Hervieu-Begue M, Moreau T, Osseby GV, Garret P, Nambot S, Delanne J, Bruel AL, Sorlin A, Callier P, Denomme-Pichon AS, Faivre L, Béjot Y, Philippe C, Thauvin-Robinet C, Moutton S. Thomas Q, et al. Among authors: jacquin piques a. J Med Genet. 2022 May;59(5):445-452. doi: 10.1136/jmedgenet-2020-107369. Epub 2021 Mar 5. J Med Genet. 2022. PMID: 34085946
30 results