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Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Raposo M, Hübener-Schmid J, Tagett R, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L, Riess O; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Costa MDC, Lima M. Raposo M, et al. Among authors: van de warrenburg bp. Neurobiol Dis. 2024 Apr;193:106456. doi: 10.1016/j.nbd.2024.106456. Epub 2024 Feb 27. Neurobiol Dis. 2024. PMID: 38423193 Free article.
Mutant COQ2 in multiple-system atrophy.
Sharma M, Wenning G, Krüger R; European Multiple-System Atrophy Study Group (EMSA-SG). Sharma M, et al. N Engl J Med. 2014 Jul 3;371(1):80-1. doi: 10.1056/NEJMc1311763. N Engl J Med. 2014. PMID: 24988568 No abstract available.
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatà S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER; International Parkinsonism Genetics Network; Oostra BA, Barone P, Wang J, Bonifati V. Quadri M, et al. Hum Mutat. 2013 Sep;34(9):1208-15. doi: 10.1002/humu.22373. Epub 2013 Aug 6. Hum Mutat. 2013. PMID: 23804577
Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.
Potashman M, Rudell K, Pavisic I, Suminski N, Doma R, Heinrich M, Abetz-Webb L, Beiner MW, Kuo SH, Rosenthal LS, Zesiwicz T, Fife TD, van de Warrenburg BP, Ristori G, Synofzik M, Perlman S, Schmahmann JD, L'Italien G. Potashman M, et al. Among authors: van de warrenburg bp. Cerebellum. 2024 May 7. doi: 10.1007/s12311-024-01700-2. Online ahead of print. Cerebellum. 2024. PMID: 38713312
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
Rezende TJR, Adanyaguh I, Barsottini OGP, Bender B, Cendes F, Coutinho L, Deistung A, Dogan I, Durr A, Fernandez-Ruiz J, Göricke SL, Grisoli M, Hernandez-Castillo CR, Lenglet C, Mariotti C, Martinez ARM, Massuyama BK, Mochel F, Nanetti L, Nigri A, Ono SE, Öz G, Pedroso JL, Reetz K, Synofzik M, Teive H, Thomopoulos SI, Thompson PM, Timmann D, van de Warrenburg BPC, van Gaalen J, França MC Jr, Harding IH. Rezende TJR, et al. Among authors: van de warrenburg bpc. J Neurol Neurosurg Psychiatry. 2024 Feb 21:jnnp-2023-332696. doi: 10.1136/jnnp-2023-332696. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38383154 Free article.
The FGF14 gene is a milestone in ataxia genetics.
van de Warrenburg BP, Kamsteeg EJ. van de Warrenburg BP, et al. EBioMedicine. 2024 Feb;100:104994. doi: 10.1016/j.ebiom.2024.104994. Epub 2024 Feb 1. EBioMedicine. 2024. PMID: 38301484 Free PMC article. No abstract available.
Smartphone applications for Movement Disorders: Towards collaboration and re-use.
Willemse IHJ, Schootemeijer S, van den Bergh R, Dawes H, Nonnekes JH, van de Warrenburg BPC. Willemse IHJ, et al. Among authors: van de warrenburg bpc. Parkinsonism Relat Disord. 2024 Mar;120:105988. doi: 10.1016/j.parkreldis.2023.105988. Epub 2024 Jan 1. Parkinsonism Relat Disord. 2024. PMID: 38184466 Free article. Review.
301 results