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SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P. Synofzik M, et al. Among authors: gallenmuller c. Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17. Brain. 2016. PMID: 27086870 Free PMC article.
Mast Syndrome Outside the Amish Community: SPG21 in Europe.
Amprosi M, Indelicato E, Nachbauer W, Hussl A, Stendel C, Eigentler A, Gallenmüller C, Boesch S, Klopstock T. Amprosi M, et al. Among authors: gallenmuller c. Front Neurol. 2022 Jan 17;12:799953. doi: 10.3389/fneur.2021.799953. eCollection 2021. Front Neurol. 2022. PMID: 35111129 Free PMC article.
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L. Schüle R, et al. Among authors: gallenmuller c. Ann Neurol. 2016 Apr;79(4):646-58. doi: 10.1002/ana.24611. Epub 2016 Mar 11. Ann Neurol. 2016. PMID: 26856398
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
D'Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T. D'Adamo MC, et al. Among authors: gallenmuller c. Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollection 2014. Front Physiol. 2015. PMID: 25642194 Free PMC article.
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.
Rabenstein A, Catarino CB, Rampeltshammer V, Schindler D, Gallenmüller C, Priglinger C, Pogarell O, Rüther T, Klopstock T. Rabenstein A, et al. Among authors: gallenmuller c. Orphanet J Rare Dis. 2021 Mar 11;16(1):127. doi: 10.1186/s13023-021-01724-5. Orphanet J Rare Dis. 2021. PMID: 33706792 Free PMC article.
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