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Quoted phrase not found in phrase index: "Ataxia - oculomotor apraxia type 4"
Page 1
R-loop-derived cytoplasmic RNA-DNA hybrids activate an immune response.
Crossley MP, Song C, Bocek MJ, Choi JH, Kousouros JN, Sathirachinda A, Lin C, Brickner JR, Bai G, Lans H, Vermeulen W, Abu-Remaileh M, Cimprich KA. Crossley MP, et al. Nature. 2023 Jan;613(7942):187-194. doi: 10.1038/s41586-022-05545-9. Epub 2022 Dec 21. Nature. 2023. PMID: 36544021 Free PMC article.
Deregulation of R-loop dynamics can lead to DNA damage and genome instability(1), which has been linked to the action of endonucleases such as XPG(2-4). However, the mechanisms and cellular consequences of such processing have remained unclear. ...Excised hybrids and an R- …
Deregulation of R-loop dynamics can lead to DNA damage and genome instability(1), which has been linked to the action of endonucleases such …
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (A …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia …
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2.
Panouillères M, Frismand S, Sillan O, Urquizar C, Vighetto A, Pélisson D, Tilikete C. Panouillères M, et al. Cerebellum. 2013 Aug;12(4):557-67. doi: 10.1007/s12311-013-0463-1. Cerebellum. 2013. PMID: 23475383 Clinical Trial.
Ataxia with oculomotor apraxia type 2 (AOA2) is one of the most frequent autosomal recessive cerebellar ataxias. Oculomotor apraxia refers to horizontal gaze failure due to deficits in voluntary/reactive eye movements. ...
Ataxia with oculomotor apraxia type 2 (AOA2) is one of the most frequent autosomal recessive cerebellar ataxi …
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R. Bras J, et al. Am J Hum Genet. 2015 Mar 5;96(3):474-9. doi: 10.1016/j.ajhg.2015.01.005. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728773 Free PMC article.
Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, s …
Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygo …
A new MRI marker of ataxia with oculomotor apraxia.
Ronsin S, Hannoun S, Thobois S, Petiot P, Vighetto A, Cotton F, Tilikete C. Ronsin S, et al. Eur J Radiol. 2019 Jan;110:187-192. doi: 10.1016/j.ejrad.2018.11.035. Epub 2018 Nov 29. Eur J Radiol. 2019. PMID: 30599859 Free article.
PURPOSE: Evaluate the specificity and sensitivity of disappearance of susceptibility weighted imaging (SWI) dentate nuclei (DN) hypointensity in oculomotor apraxia patients (AOA). METHOD: In this prospective study, 27 patients with autosomal genetic ataxia (A …
PURPOSE: Evaluate the specificity and sensitivity of disappearance of susceptibility weighted imaging (SWI) dentate nuclei (DN) hypointensit …
Ataxia with oculomotor apraxia.
Liu W, Narayanan V. Liu W, et al. Semin Pediatr Neurol. 2008 Dec;15(4):216-20. doi: 10.1016/j.spen.2008.10.014. Semin Pediatr Neurol. 2008. PMID: 19073331
Ataxia-telangiectasia (AT) belongs to a group of recessively inherited disorders characterized by progressive ataxia and oculomotor apraxia. Included in this group are AT, ataxia-telangiectasia-like disorder (ATLD), ataxia with oculomo …
Ataxia-telangiectasia (AT) belongs to a group of recessively inherited disorders characterized by progressive ataxia and oc …
Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.
Schiess N, Zee DS, Siddiqui KA, Szolics M, El-Hattab AW. Schiess N, et al. J Neurogenet. 2017 Mar-Jun;31(1-2):23-25. doi: 10.1080/01677063.2017.1322079. J Neurogenet. 2017. PMID: 28552035
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a novel PNKP m …
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new techn …
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. Renaud M, et al. JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373. JAMA Neurol. 2018. PMID: 29356829 Free PMC article.
IMPORTANCE: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, a …
IMPORTANCE: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due …
The syndrome of infantile-onset saccade initiation delay.
Salman MS, Ikeda KM. Salman MS, et al. Can J Neurol Sci. 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. Can J Neurol Sci. 2013. PMID: 23419574 Review.
Other abnormalities including developmental delay and ataxia have been reported. The frequency of these abnormalities is unknown. ...The fast phases of the optokinetic response and vestibulo-ocular reflex were impaired in 69.8% and 34.4% respectively. Smooth ocular …
Other abnormalities including developmental delay and ataxia have been reported. The frequency of these abnormalities is unknown. ... …
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
Paucar M, Taylor AMR, Hadjivassiliou M, Fogel BL, Svenningsson P. Paucar M, et al. Tremor Other Hyperkinet Mov (N Y). 2019 Oct 10;9. doi: 10.7916/tohm.v0.708. eCollection 2019. Tremor Other Hyperkinet Mov (N Y). 2019. PMID: 31656689 Free PMC article. Review.
BACKGROUND: Ataxias represent a challenging group of disorders due to significant clinical overlap. ...CASE REPORT: Ataxia, polyneuropathy, and mild elevation of AFP are features compatible with ataxia with oculomotor apraxia type 2 (AOA2 …
BACKGROUND: Ataxias represent a challenging group of disorders due to significant clinical overlap. ...CASE REPORT: Ataxia, po …
25 results