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

963 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus.
Pellerin D, Gobbo GD, Couse M, Dolzhenko E, Dicaire MJ, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Lamont PJ, Laing NG, Renaud M, Ravenscroft G, Houlden H, Synofzik M, Eberle MA, Boycott KM, Pastinen T; All of Us Long Reads Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: houlden h. bioRxiv [Preprint]. 2023 Jun 30:2023.05.11.540430. doi: 10.1101/2023.05.11.540430. bioRxiv. 2023. Update in: Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5 PMID: 37425777 Free PMC article. Updated. Preprint.
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
Pellerin D, Wilke C, Traschütz A, Nagy S, Currò R, Dicaire MJ, Garcia-Moreno H, Anheim M, Wirth T, Faber J, Timmann D, Depienne C, Rujescu D, Gazulla J, Reilly MM, Giunti P, Brais B, Houlden H, Schöls L, Strupp M, Cortese A, Synofzik M. Pellerin D, et al. Among authors: houlden h. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490. J Neurol Neurosurg Psychiatry. 2024. PMID: 37399286 Free PMC article.
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
Pellerin D, Iruzubieta P, Tekgül Ş, Danzi MC, Ashton C, Dicaire MJ, Wandzel M, Roth V, Lamont PJ, Bonnet C, Renaud M, Synofzik M, Zuchner S, Brais B, Başak NA, Houlden H. Pellerin D, et al. Among authors: houlden h. Mov Disord. 2023 Aug;38(8):1575-1577. doi: 10.1002/mds.29552. Mov Disord. 2023. PMID: 37565404 No abstract available.
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Novis LE, Frezatti RS, Pellerin D, Tomaselli PJ, Alavi S, Della Coleta MV, Spitz M, Dicaire MJ, Iruzubieta P, Pedroso JL, Barsottini O, Cortese A, Danzi MC, França MC Jr, Brais B, Zuchner S, Houlden H, Raskin S, Marques W, Teive HA. Novis LE, et al. Among authors: houlden h. Neurol Genet. 2023 Aug 28;9(5):e200094. doi: 10.1212/NXG.0000000000200094. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37646005 Free PMC article.
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
Ashton C, Indelicato E, Pellerin D, Clément G, Danzi MC, Dicaire MJ, Bonnet C, Houlden H, Züchner S, Synofzik M, Lamont PJ, Renaud M, Boesch S, Brais B. Ashton C, et al. Among authors: houlden h. Brain Commun. 2023 Sep 10;5(5):fcad239. doi: 10.1093/braincomms/fcad239. eCollection 2023. Brain Commun. 2023. PMID: 37705681 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: houlden h. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
Vegezzi E, Ishiura H, Bragg DC, Pellerin D, Magrinelli F, Currò R, Facchini S, Tucci A, Hardy J, Sharma N, Danzi MC, Zuchner S, Brais B, Reilly MM, Tsuji S, Houlden H, Cortese A. Vegezzi E, et al. Among authors: houlden h. Lancet Neurol. 2024 Jul;23(7):725-739. doi: 10.1016/S1474-4422(24)00167-4. Lancet Neurol. 2024. PMID: 38876750 Review.
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: houlden h. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606 Free PMC article.
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: houlden h. medRxiv [Preprint]. 2024 Jul 3:2024.07.01.24309777. doi: 10.1101/2024.07.01.24309777. medRxiv. 2024. Update in: Brain. 2024 Oct 08:awae312. doi: 10.1093/brain/awae312 PMID: 39006414 Free PMC article. Updated. Preprint.
963 results