Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

33 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. Kuipers DJS, et al. Among authors: meijer ia. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15. Ann Neurol. 2021. PMID: 33236446 Free PMC article.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM. Gauthier J, et al. Among authors: meijer ia. Ann Neurol. 2018 Jun;83(6):1089-1095. doi: 10.1002/ana.25204. Epub 2018 Apr 10. Ann Neurol. 2018. PMID: 29518281
Characterization of a novel SPG3A deletion in a French-Canadian family.
Meijer IA, Dion P, Laurent S, Dupré N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA. Meijer IA, et al. Ann Neurol. 2007 Jun;61(6):599-603. doi: 10.1002/ana.21114. Ann Neurol. 2007. PMID: 17427918
Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.
Liao C, Castonguay CE, Heilbron K, Vuokila V, Medeiros M, Houle G, Akçimen F, Ross JP, Catoire H, Diez-Fairen M, Kang J, Mueller SH, Girard SL, Hopfner F, Lorenz D, Clark LN, Soto-Beasley AI, Klebe S, Hallett M, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Seppi K, Berg D, Vilariño-Güell C, Postuma RB, Bernard G, Dupré N, Jankovic J, Testa CM, Ross OA, Arzberger T, Chouinard S, Louis ED, Mandich P, Vitale C, Barone P, García-Martín E, Alonso-Navarro H, Agúndez JAG, Jiménez-Jiménez FJ, Pastor P, Rajput A, Deuschl G, Kuhlenbaümer G, Meijer IA, Dion PA, Rouleau GA; 23andMe Research Team. Liao C, et al. Among authors: meijer ia. JAMA Neurol. 2022 Feb 1;79(2):185-193. doi: 10.1001/jamaneurol.2021.4781. JAMA Neurol. 2022. PMID: 34982113 Free PMC article.
Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.
Liao C, Akçimen F, Diez-Fairen M, Houle G, Ross JP, Schmilovich Z, Spiegelman D, Vuokila V, Catoire H, Meijer IA, Pastor P, Rajput A, Dion PA, Rouleau GA. Liao C, et al. Among authors: meijer ia. Brain. 2020 Dec 5;143(11):e89. doi: 10.1093/brain/awaa291. Brain. 2020. PMID: 33146671 No abstract available.
33 results