142 related articles for article (PubMed ID: 32340215)
1. Novel
Santos M; Damásio J; Kun-Rodrigues C; Barbot C; Sequeiros J; Brás J; Alonso I; Guerreiro R
J Clin Med; 2020 Apr; 9(4):. PubMed ID: 32340215
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Lossos A; Elazar N; Lerer I; Schueler-Furman O; Fellig Y; Glick B; Zimmerman BE; Azulay H; Dotan S; Goldberg S; Gomori JM; Ponger P; Newman JP; Marreed H; Steck AJ; Schaeren-Wiemers N; Mor N; Harel M; Geiger T; Eshed-Eisenbach Y; Meiner V; Peles E
Brain; 2015 Sep; 138(Pt 9):2521-36. PubMed ID: 26179919
[TBL] [Abstract][Full Text] [Related]
4. Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.
Chen S; Du J; Jiang H; Zhao W; Wang N; Ying A; Li J; Chen S; Shen B; Zhou Y
Front Mol Neurosci; 2022; 15():1019974. PubMed ID: 36438189
[TBL] [Abstract][Full Text] [Related]
5. Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Roubertie A; Charif M; Meyer P; Manes G; Meunier I; Taieb G; Junta Morales R; Guichet A; Delettre C; Sarzi E; Leboucq N; Rivier F; Lenaers G
Ann Clin Transl Neurol; 2019 Aug; 6(8):1572-1577. PubMed ID: 31402626
[TBL] [Abstract][Full Text] [Related]
6. A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.
Tariq H; Imran R; Naz S
J Clin Neurol; 2018 Oct; 14(4):498-504. PubMed ID: 30198223
[TBL] [Abstract][Full Text] [Related]
7. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Renaud M; Moreira MC; Ben Monga B; Rodriguez D; Debs R; Charles P; Chaouch M; Ferrat F; Laurencin C; Vercueil L; Mallaret M; M'Zahem A; Pacha LA; Tazir M; Tilikete C; Ollagnon E; Ochsner F; Kuntzer T; Jung HH; Beis JM; Netter JC; Djamshidian A; Bower M; Bottani A; Walsh R; Murphy S; Reiley T; Bieth É; Roelens F; Poll-The BT; Lourenço CM; Jardim LB; Straussberg R; Landrieu P; Roze E; Thobois S; Pouget J; Guissart C; Goizet C; Dürr A; Tranchant C; Koenig M; Anheim M
JAMA Neurol; 2018 Apr; 75(4):495-502. PubMed ID: 29356829
[TBL] [Abstract][Full Text] [Related]
8. A Novel
Votsi C; Ververis A; Nicolaou P; Christou YP; Christodoulou K; Zamba-Papanicolaou E
Front Genet; 2021; 12():812640. PubMed ID: 35096021
[TBL] [Abstract][Full Text] [Related]
9. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Anheim M; Monga B; Fleury M; Charles P; Barbot C; Salih M; Delaunoy JP; Fritsch M; Arning L; Synofzik M; Schöls L; Sequeiros J; Goizet C; Marelli C; Le Ber I; Koht J; Gazulla J; De Bleecker J; Mukhtar M; Drouot N; Ali-Pacha L; Benhassine T; Chbicheb M; M'Zahem A; Hamri A; Chabrol B; Pouget J; Murphy R; Watanabe M; Coutinho P; Tazir M; Durr A; Brice A; Tranchant C; Koenig M
Brain; 2009 Oct; 132(Pt 10):2688-98. PubMed ID: 19696032
[TBL] [Abstract][Full Text] [Related]
10. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
Mancini C; Giorgio E; Rubegni A; Pradotto L; Bagnoli S; Rubino E; Prontera P; Cavalieri S; Di Gregorio E; Ferrero M; Pozzi E; Riberi E; Ferrero P; Nigro P; Mauro A; Zibetti M; Tessa A; Barghigiani M; Antenora A; Sirchia F; Piacentini S; Silvestri G; De Michele G; Filla A; Orsi L; Santorelli FM; Brusco A
Eur J Neurol; 2019 Jan; 26(1):80-86. PubMed ID: 30098094
[TBL] [Abstract][Full Text] [Related]
11. Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.
Albaradie R; Alharbi A; Alsaffar G; Alhamad B; Bashir S
Exp Ther Med; 2022 Dec; 24(6):709. PubMed ID: 36382100
[TBL] [Abstract][Full Text] [Related]
12. A New Phenotype of Ataxia With Oculomotor Apraxia Type 4.
Freitas E; Costa O; Rocha S
Cureus; 2021 Feb; 13(2):e13601. PubMed ID: 33654647
[TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in
Algahtani H; Shirah B; Ullah I; Al-Qahtani MH; Abdulkareem AA; Naseer MI
Genes Dis; 2021 Jan; 8(1):110-114. PubMed ID: 33569519
[TBL] [Abstract][Full Text] [Related]
14. CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
Shetty A; Gan-Or Z; Ashtiani S; Ruskey JA; van de Warrenburg B; Wassenberg T; Kamsteeg EJ; Rouleau GA; Suchowersky O
Eur J Med Genet; 2019 Dec; 62(12):103605. PubMed ID: 30572172
[TBL] [Abstract][Full Text] [Related]
15. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
Nielsen JE; Johnsen B; Koefoed P; Scheuer KH; Grønbech-Jensen M; Law I; Krabbe K; Nørremølle A; Eiberg H; Søndergård H; Dam M; Rehfeld JF; Krarup C; Paulson OB; Hasholt L; Sørensen SA
Eur J Neurol; 2004 Dec; 11(12):817-24. PubMed ID: 15667412
[TBL] [Abstract][Full Text] [Related]
16. Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP; Schouten MI; de Bot ST; Vermeer S; Meijer R; Pennings M; Gilissen C; Willemsen MA; Scheffer H; Kamsteeg EJ
Eur J Hum Genet; 2016 Oct; 24(10):1460-6. PubMed ID: 27165006
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site.
Roda RH; FitzGibbon EJ; Boucekkine H; Schindler AB; Blackstone C
Ann Clin Transl Neurol; 2016 Aug; 3(8):650-4. PubMed ID: 27606346
[TBL] [Abstract][Full Text] [Related]
19. A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.
Campopiano R; Ferese R; Buttari F; Femiano C; Centonze D; Fornai F; Biagioni F; Chiaravalloti MA; Magnani M; Giardina E; Ruzzo A; Gambardella S
Front Neurol; 2019; 10():1331. PubMed ID: 32010037
[TBL] [Abstract][Full Text] [Related]
20. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L; Melo C; Silva MC; Coutinho P
Neuroepidemiology; 2014; 42(3):174-83. PubMed ID: 24603320
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
