147 related articles for article (PubMed ID: 38609751)
1. Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia.
Clément G; Puisieux S; Pellerin D; Brais B; Bonnet C; Renaud M
Rev Neurol (Paris); 2024 May; 180(5):410-416. PubMed ID: 38609751
[TBL] [Abstract][Full Text] [Related]
2. The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Kartanou C; Mitrousias A; Pellerin D; Kontogeorgiou Z; Iruzubieta P; Dicaire MJ; Danzi MC; Koniari C; Athanassopoulos K; Panas M; Stefanis L; Zuchner S; Brais B; Houlden H; Karadima G; Koutsis G
Clin Genet; 2024 Apr; 105(4):446-452. PubMed ID: 38221848
[TBL] [Abstract][Full Text] [Related]
3. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
Iruzubieta P; Pellerin D; Bergareche A; Albajar I; Mondragón E; Vinagre A; Fernández-Torrón R; Moreno F; Equiza J; Campo-Caballero D; Poza JJ; Ruibal M; Formica A; Dicaire MJ; Danzi MC; Zuchner S; Croitoru I; Ruiz M; Schlüter A; Casasnovas C; Pujol A; Brais B; Houlden H; López de Munain A; Ruiz-Martínez J
Eur J Neurol; 2023 Dec; 30(12):3828-3833. PubMed ID: 37578187
[TBL] [Abstract][Full Text] [Related]
4. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
Pellerin D; Danzi MC; Renaud M; Houlden H; Synofzik M; Zuchner S; Brais B
Clin Transl Med; 2024 Jan; 14(1):e1504. PubMed ID: 38279833
[TBL] [Abstract][Full Text] [Related]
5. Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T; Clément G; Delvallée C; Bonnet C; Bogdan T; Iosif A; Schalk A; Chanson JB; Pellerin D; Brais B; Roth V; Wandzel M; Fleury MC; Piton A; Calmels N; Namer IJ; Kremer S; Tranchant C; Renaud M; Anheim M
Mov Disord; 2023 Oct; 38(10):1950-1956. PubMed ID: 37470282
[TBL] [Abstract][Full Text] [Related]
6. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Wilke C; Pellerin D; Mengel D; Traschütz A; Danzi MC; Dicaire MJ; Neumann M; Lerche H; Bender B; Houlden H; ; Züchner S; Schöls L; Brais B; Synofzik M
Brain; 2023 Oct; 146(10):4144-4157. PubMed ID: 37165652
[TBL] [Abstract][Full Text] [Related]
7. Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S; Rossi S; Vegezzi E; Pellerin D; Manca ML; Barghigiani M; Battisti C; Bilancieri G; Bruno G; Capacci E; Casali C; Ceravolo R; Cocozza S; Cotti Piccinelli S; Criscuolo C; Danzi MC; De Micco R; De Michele G; Dicaire MJ; Falcone GMI; Fancellu R; Ferchichi Y; Ferrari C; Filla A; Fini N; Govoni A; Lo Vecchio F; Malandrini A; Mignarri A; Musumeci O; Nesti C; Pappatà S; Pellecchia MT; Perna A; Petrucci A; Pomponi MG; Ravenni R; Ricca I; Rufa A; Tabolacci E; Tessa A; Tessitore A; Zuchner S; Silvestri G; Cortese A; Brais B; Santorelli FM
J Neurol; 2024 Jun; ():. PubMed ID: 38886208
[TBL] [Abstract][Full Text] [Related]
8. Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Wirth T; Bonnet C; Delvallée C; Pellerin D; Bogdan T; Clément G; Schalk A; Chanson JB; Fleury MC; Piton A; Calmels N; Namer IJ; Kremer S; Brais B; Tranchant C; Renaud M; Anheim M
J Neurol; 2024 Apr; 271(4):2078-2085. PubMed ID: 38263489
[TBL] [Abstract][Full Text] [Related]
9. Case series: Downbeat nystagmus in SCA27B.
Shirai S; Mizushima K; Fujiwara K; Koshimizu E; Matsushima M; Miyatake S; Iwata I; Yaguchi H; Matsumoto N; Yabe I
J Neurol Sci; 2023 Nov; 454():120849. PubMed ID: 37907039
[TBL] [Abstract][Full Text] [Related]
10. Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).
Foucard C; Belley M; Sangare A; Bonnet C; Renaud M; Roze E
Neurol Genet; 2024 Feb; 10(1):e200118. PubMed ID: 38170134
[TBL] [Abstract][Full Text] [Related]
11. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL; Davoine CS; Pellerin D; Coarelli G; Coutelier M; Ewenczyk C; Monin ML; Anheim M; Le Ber I; Thobois S; Gobert F; Guillot-Noël L; Forlani S; Jornea L; Heinzmann A; Sangare A; Gaymard B; Guyant-Maréchal L; Charles P; Marelli C; Honnorat J; Degos B; Tison F; Sangla S; Simonetta-Moreau M; Salachas F; Tchikviladzé M; Castelnovo G; Mochel F; Klebe S; Castrioto A; Fenu S; Méneret A; Bourdain F; Wandzel M; Roth V; Bonnet C; Riant F; Stevanin G; Noël S; Fauret-Amsellem AL; Bahlo M; Lockhart PJ; Brais B; Renaud M; Brice A; Durr A
EBioMedicine; 2024 Jan; 99():104931. PubMed ID: 38150853
[TBL] [Abstract][Full Text] [Related]
12. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
Pellerin D; Heindl F; Wilke C; Danzi MC; Traschütz A; Ashton C; Dicaire MJ; Cuillerier A; Del Gobbo G; Boycott KM; Claassen J; Rujescu D; Hartmann AM; Zuchner S; Brais B; Strupp M; Synofzik M
EBioMedicine; 2024 Apr; 102():105076. PubMed ID: 38507876
[TBL] [Abstract][Full Text] [Related]
13. Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
Ando M; Higuchi Y; Yuan J; Yoshimura A; Kojima F; Yamanishi Y; Aso Y; Izumi K; Imada M; Maki Y; Nakagawa H; Hobara T; Noguchi Y; Takei J; Hiramatsu Y; Nozuma S; Sakiyama Y; Hashiguchi A; Matsuura E; Okamoto Y; Takashima H
Ann Clin Transl Neurol; 2024 Jan; 11(1):96-104. PubMed ID: 37916889
[TBL] [Abstract][Full Text] [Related]
14. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.
Gebus O; Montaut S; Monga B; Wirth T; Cheraud C; Alves Do Rego C; Zinchenko I; Carré G; Hamdaoui M; Hautecloque G; Nguyen-Them L; Lannes B; Chanson JB; Lagha-Boukbiza O; Fleury MC; Devys D; Nicolas G; Rudolf G; Bereau M; Mallaret M; Renaud M; Acquaviva C; Koenig M; Koob M; Kremer S; Namer IJ; Cazeneuve C; Echaniz-Laguna A; Tranchant C; Anheim M
J Neurol; 2017 Jun; 264(6):1118-1126. PubMed ID: 28478596
[TBL] [Abstract][Full Text] [Related]
15. A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.
Salari M; Etemadifar M; Rashedi R; Mardani S
Cerebellum; 2024 Apr; 23(2):702-721. PubMed ID: 37000369
[TBL] [Abstract][Full Text] [Related]
16. A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood.
Ferrera G; Izzo R; Ghezzi D; Nanetti L; Lamantea E; Ardissone A
Neuropediatrics; 2024 Apr; 55(2):135-139. PubMed ID: 37935417
[TBL] [Abstract][Full Text] [Related]
17. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.
Wolf NI; Koenig M
Handb Clin Neurol; 2013; 113():1869-78. PubMed ID: 23622410
[TBL] [Abstract][Full Text] [Related]
18. An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
Rudaks LI; Yeow D; Ng K; Deveson IW; Kennerson ML; Kumar KR
Cerebellum; 2024 May; ():. PubMed ID: 38760634
[TBL] [Abstract][Full Text] [Related]
19. Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia.
Zheng ZH; Cao CY; Cheng B; Yuan RY; Zeng YH; Guo ZB; Qiu YS; Lv WQ; Liang H; Li JL; Zhang WX; Fang MK; Sun YH; Lin W; Hong JM; Gan SR; Wang N; Chen WJ; Du GQ; Fang L
J Hum Genet; 2024 Jun; ():. PubMed ID: 38866925
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
