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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Among authors: ganos c. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
Myoclonus and other jerky movement disorders.
van der Veen S, Caviness JN, Dreissen YEM, Ganos C, Ibrahim A, Koelman JHTM, Stefani A, Tijssen MAJ. van der Veen S, et al. Among authors: ganos c. Clin Neurophysiol Pract. 2022 Oct 6;7:285-316. doi: 10.1016/j.cnp.2022.09.003. eCollection 2022. Clin Neurophysiol Pract. 2022. PMID: 36324989 Free PMC article. Review.
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.
Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Lange LM, et al. Among authors: ganos c. Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28. Mov Disord. 2022. PMID: 35481685 Review.
Worldwide barriers to genetic testing for movement disorders.
Gatto EM, Walker RH, Gonzalez C, Cesarini M, Cossu G, Stephen CD, Balint B, Rodríguez-Violante M, Jankovic J, Morgante F, Jinnah HA; Rare Movement Disorders Study Group of the International Parkinson Disease, Movement Disorders Society. Gatto EM, et al. Eur J Neurol. 2021 Jun;28(6):1901-1909. doi: 10.1111/ene.14826. Epub 2021 Apr 9. Eur J Neurol. 2021. PMID: 33730413
Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.
Sáenz-Farret M, Lang AE, Kalia L, Cunha I, Sousa M, Kuhlman G, Ganos C, Munhoz RP, Fasano A, Piña-Avilés CE, Zúñiga-Ramírez C. Sáenz-Farret M, et al. Among authors: ganos c. Mov Disord Clin Pract. 2022 Apr 1;9(4):522-529. doi: 10.1002/mdc3.13437. eCollection 2022 May. Mov Disord Clin Pract. 2022. PMID: 35586535 Free PMC article.
174 results