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623 results

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Page 1
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L. Milh M, et al. Among authors: laroche c. Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770924 Free article.
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M. Di Meglio C, et al. Among authors: laroche c. Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29. Epilepsia. 2015. PMID: 26514728 Free article.
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
Panagiotakaki E, Doummar D, Nogue E, Nagot N, Lesca G, Riant F, Nicole S, Delaygue C, Barthez MA, Nassogne MC, Dusser A, Vallée L, Billette T, Bourgeois M, Ioos C, Gitiaux C, Laroche C, Milh M, Portes VD, Arzimanoglou A, Roubertie A; AHC–Movement Disorder Study Group. Panagiotakaki E, et al. Among authors: laroche c. Neurology. 2020 Mar 31;94(13):e1378-e1385. doi: 10.1212/WNL.0000000000009175. Epub 2020 Mar 2. Neurology. 2020. PMID: 32123049
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, Van Bogaert P, de Saint Martin A, Hirsch E, Dubois F, Sarret C, Nguyen The Tich S, Laroche C, des Portes V, Billette de Villemeur T, Barthez MA, Auvin S, Bahi-Buisson N, Desguerre I, Kaminska A, Benquet P, Nabbout R. Kuchenbuch M, et al. Among authors: laroche c. Brain. 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240. Brain. 2019. PMID: 31532509 Free article.
[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods].
Barnérias C, Quijano S, Mayer M, Estournet B, Cuisset JM, Sukno S, Peudenier S, Laroche C, Chabrier S, Sabouraud P, Vuillerot C, Chabrol B, Halbert C, Cancès C, Beze-Beyrie P, Ledivenah A, Viallard ML, Desguerre I. Barnérias C, et al. Among authors: laroche c. Arch Pediatr. 2014 Apr;21(4):347-54. doi: 10.1016/j.arcped.2014.01.017. Epub 2014 Mar 12. Arch Pediatr. 2014. PMID: 24630620 French.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P. Habarou F, et al. Among authors: laroche c. Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27. Am J Hum Genet. 2017. PMID: 28757203 Free PMC article.
Increased diagnostic yield in complex dystonia through exome sequencing.
Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J. Wirth T, et al. Among authors: laroche c. Parkinsonism Relat Disord. 2020 May;74:50-56. doi: 10.1016/j.parkreldis.2020.04.003. Epub 2020 Apr 20. Parkinsonism Relat Disord. 2020. PMID: 32334381
623 results