300 related articles for article (PubMed ID: 24202787)
1. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Doss S; Lohmann K; Seibler P; Arns B; Klopstock T; Zühlke C; Freimann K; Winkler S; Lohnau T; Drungowski M; Nürnberg P; Wiegers K; Lohmann E; Naz S; Kasten M; Bohner G; Ramirez A; Endres M; Klein C
J Neurol; 2014 Jan; 261(1):207-12. PubMed ID: 24202787
[TBL] [Abstract][Full Text] [Related]
2. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Szklarczyk R; Wanschers BF; Nijtmans LG; Rodenburg RJ; Zschocke J; Dikow N; van den Brand MA; Hendriks-Franssen MG; Gilissen C; Veltman JA; Nooteboom M; Koopman WJ; Willems PH; Smeitink JA; Huynen MA; van den Heuvel LP
Hum Mol Genet; 2013 Feb; 22(4):656-67. PubMed ID: 23125284
[TBL] [Abstract][Full Text] [Related]
3. Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.
Xu H; Ji T; Lian Y; Wang S; Chen X; Li S; Yin Y; Dong X
Hum Genet; 2019 Jul; 138(7):749-756. PubMed ID: 31079202
[TBL] [Abstract][Full Text] [Related]
4. Novel pathogenic
Otero MG; Tiongson E; Diaz F; Haude K; Panzer K; Collier A; Kim J; Adams D; Tifft CJ; Cui H; Millian Zamora F; Au MG; Graham JM; Buckley DJ; Lewis R; Toro C; Bai R; Turner L; Mathews KD; Gahl W; Pierson TM
Ann Clin Transl Neurol; 2019 Jan; 6(1):154-160. PubMed ID: 30656193
[No Abstract] [Full Text] [Related]
5. Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Higuchi Y; Ando M; Kojima F; Yuan J; Hashiguchi A; Yoshimura A; Hiramatsu Y; Nozuma S; Fukumura S; Yahikozawa H; Abe E; Toyoshima I; Sugawara M; Okamoto Y; Matsuura E; Takashima H
J Neurol; 2024 Jan; 271(1):419-430. PubMed ID: 37750949
[TBL] [Abstract][Full Text] [Related]
6. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
Le Ber I; Clot F; Vercueil L; Camuzat A; Viémont M; Benamar N; De Liège P; Ouvrard-Hernandez AM; Pollak P; Stevanin G; Brice A; Dürr A
Neurology; 2006 Nov; 67(10):1769-73. PubMed ID: 17130408
[TBL] [Abstract][Full Text] [Related]
7. Familial writer's cramp: a clinical clue for inherited coenzyme Q
Amprosi M; Zech M; Steiger R; Nachbauer W; Eigentler A; Gizewski ER; Guger M; Indelicato E; Boesch S
Neurogenetics; 2021 Mar; 22(1):81-86. PubMed ID: 32830305
[TBL] [Abstract][Full Text] [Related]
8. Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M; Ishiura H; Sasaki T; Otsuka J; Hayashi T; Terao Y; Matsukawa T; Mitsui J; Kaneko J; Nishiyama K; Doi K; Yoshimura J; Morishita S; Shimizu J; Tsuji S
Cerebellum; 2018 Apr; 17(2):237-242. PubMed ID: 28895081
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.
Chen L; Liu Y
BMC Med Genomics; 2023 Apr; 16(1):86. PubMed ID: 37095481
[TBL] [Abstract][Full Text] [Related]
10. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M; Brunet T; Škorvánek M; Blaschek A; Vill K; Hanker B; Hüning I; Haň V; Došekova P; Gdovinová Z; Alhaddad B; Berutti R; Strom TM; Růžička E; Kamsteeg EJ; van der Smagt JJ; Wagner M; Jech R; Winkelmann J
Parkinsonism Relat Disord; 2020 Aug; 77():70-75. PubMed ID: 32629324
[TBL] [Abstract][Full Text] [Related]
11. Primary coenzyme Q10 deficiency due to COQ8A gene mutations.
Zhang L; Ashizawa T; Peng D
Mol Genet Genomic Med; 2020 Oct; 8(10):e1420. PubMed ID: 32743982
[TBL] [Abstract][Full Text] [Related]
12. Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the
Shimazaki H; Kobayashi J; Sugaya R; Nakano I; Fujimoto S
J Integr Neurosci; 2020 Mar; 19(1):125-129. PubMed ID: 32259893
[TBL] [Abstract][Full Text] [Related]
13. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K; Morino H; Miyamoto R; Matsuda Y; Ohsawa R; Kanaya Y; Tada Y; Kurashige T; Kawakami H
BMC Med Genet; 2020 Mar; 21(1):68. PubMed ID: 32234020
[TBL] [Abstract][Full Text] [Related]
14. [A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].
Zhang CL; Yin F; He F; Gai N; Shi ZQ; Peng J
Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):288-293. PubMed ID: 28441826
[No Abstract] [Full Text] [Related]
15. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS; Mandemakers W; Lu CS; Olgiati S; Breedveld GJ; Fevga C; Tadic V; Carecchio M; Osterman B; Sagi-Dain L; Wu-Chou YH; Chen CC; Chang HC; Wu SL; Yeh TH; Weng YH; Elia AE; Panteghini C; Marotta N; Pauly MG; Kühn AA; Volkmann J; Lace B; Meijer IA; Kandaswamy K; Quadri M; Garavaglia B; Lohmann K; Bauer P; Mencacci NE; Lubbe SJ; Klein C; Bertoli-Avella AM; Bonifati V
Ann Neurol; 2021 Mar; 89(3):485-497. PubMed ID: 33236446
[TBL] [Abstract][Full Text] [Related]
16. Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
Dong HL; Ma Y; Yu H; Wei Q; Li JQ; Liu GL; Li HF; Chen L; Chen DF; Bai G; Wu ZY
Brain; 2021 Sep; 144(8):2457-2470. PubMed ID: 33751098
[TBL] [Abstract][Full Text] [Related]
17. Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
Ali Z; Zulfiqar S; Klar J; Wikström J; Ullah F; Khan A; Abdullah U; Baig S; Dahl N
BMC Med Genet; 2017 Dec; 18(1):144. PubMed ID: 29207948
[TBL] [Abstract][Full Text] [Related]
18. Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Galosi S; Barca E; Carrozzo R; Schirinzi T; Quinzii CM; Lieto M; Vasco G; Zanni G; Di Nottia M; Galatolo D; Filla A; Bertini E; Santorelli FM; Leuzzi V; Haas R; Hirano M; Friedman J
Parkinsonism Relat Disord; 2019 Nov; 68():8-16. PubMed ID: 31621627
[TBL] [Abstract][Full Text] [Related]
19. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
Cabet S; Putoux A; Carneiro M; Labalme A; Sanlaville D; Guibaud L; Lesca G
Eur J Med Genet; 2019 Oct; 62(10):103726. PubMed ID: 31319223
[TBL] [Abstract][Full Text] [Related]
20. Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
Barca E; Musumeci O; Montagnese F; Marino S; Granata F; Nunnari D; Peverelli L; DiMauro S; Quinzii CM; Toscano A
Clin Genet; 2016 Aug; 90(2):156-60. PubMed ID: 26818466
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]