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Page 1
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.
Carneiro F, Saracino D, Huin V, Clot F, Delorme C, Méneret A, Thobois S, Cormier F, Corvol JC, Lenglet T, Vidailhet M, Habert MO, Gabelle A, Beaufils É, Mondon K, Tir M, Andriuta D, Brice A, Deramecourt V, Le Ber I. Carneiro F, et al. Among authors: brice a. Parkinsonism Relat Disord. 2020 Nov;80:73-81. doi: 10.1016/j.parkreldis.2020.09.019. Epub 2020 Sep 15. Parkinsonism Relat Disord. 2020. PMID: 32961397
Parkin mutations are frequent in patients with isolated early-onset parkinsonism.
Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Periquet M, et al. Among authors: brice a. Brain. 2003 Jun;126(Pt 6):1271-8. doi: 10.1093/brain/awg136. Brain. 2003. PMID: 12764050
How much phenotypic variation can be attributed to parkin genotype?
Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destée A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Lohmann E, et al. Among authors: brice a. Ann Neurol. 2003 Aug;54(2):176-85. doi: 10.1002/ana.10613. Ann Neurol. 2003. PMID: 12891670
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Le Ber I, Moreira MC, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Saïd G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Dürr A. Le Ber I, et al. Among authors: brice a. Brain. 2003 Dec;126(Pt 12):2761-72. doi: 10.1093/brain/awg283. Epub 2003 Sep 23. Brain. 2003. PMID: 14506070 Free article.
1,097 results