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Motor neuron pathology in CANVAS due to RFC1 expansions.
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A. Huin V, et al. Among authors: lenglet t. Brain. 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. Brain. 2022. PMID: 34927205 Free article.
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A; French Clinical and Genetic Research Network on FTD/FTD-ALS. Le Ber I, et al. Among authors: lenglet t. JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849. JAMA Neurol. 2013. PMID: 24042580 Free PMC article.
Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA.
El Mendili MM, Lenglet T, Stojkovic T, Behin A, Guimarães-Costa R, Salachas F, Meininger V, Bruneteau G, Le Forestier N, Laforêt P, Lehéricy S, Benali H, Pradat PF. El Mendili MM, et al. Among authors: lenglet t. PLoS One. 2016 Apr 18;11(4):e0152439. doi: 10.1371/journal.pone.0152439. eCollection 2016. PLoS One. 2016. PMID: 27089520 Free PMC article.
Diagnosis of unilateral trapezius muscle palsy: 54 Cases.
Seror P, Stojkovic T, Lefevre-Colau MM, Lenglet T. Seror P, et al. Among authors: lenglet t. Muscle Nerve. 2017 Aug;56(2):215-223. doi: 10.1002/mus.25481. Epub 2017 Feb 27. Muscle Nerve. 2017. PMID: 27864983
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T. Echaniz-Laguna A, et al. Among authors: lenglet t. Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25. Hum Mutat. 2017. PMID: 28144995
86 results