209 related articles for article (PubMed ID: 23726790)
1. Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.
Chen Z; Wang JL; Tang BS; Sun ZF; Shi YT; Shen L; Lei LF; Wei XM; Xiao JJ; Hu ZM; Pan Q; Xia K; Zhang QY; Dai MZ; Liu Y; Ashizawa T; Jiang H
Neurobiol Aging; 2013 Oct; 34(10):2442.e11-7. PubMed ID: 23726790
[TBL] [Abstract][Full Text] [Related]
2. Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.
Liew WK; Ben-Omran T; Darras BT; Prabhu SP; De Vivo DC; Vatta M; Yang Y; Eng CM; Chung WK
JAMA Neurol; 2013 Jun; 70(6):788-91. PubMed ID: 23699708
[TBL] [Abstract][Full Text] [Related]
3. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
Tsurusaki Y; Kobayashi Y; Hisano M; Ito S; Doi H; Nakashima M; Saitsu H; Matsumoto N; Miyake N
J Hum Genet; 2013 Feb; 58(2):113-5. PubMed ID: 23034536
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
Doi H; Ohba C; Tsurusaki Y; Miyatake S; Miyake N; Saitsu H; Kawamoto Y; Yoshida T; Koyano S; Suzuki Y; Kuroiwa Y; Tanaka F; Matsumoto N
Intern Med; 2013; 52(14):1629-33. PubMed ID: 23857099
[TBL] [Abstract][Full Text] [Related]
5. A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Zeng H; Tang JG; Yang YF; Tan ZP; Tan JQ
Cytogenet Genome Res; 2017; 152(1):16-21. PubMed ID: 28658676
[TBL] [Abstract][Full Text] [Related]
6. Recessive ataxias.
Synofzik M; Németh AH
Handb Clin Neurol; 2018; 155():73-89. PubMed ID: 29891078
[TBL] [Abstract][Full Text] [Related]
7. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH; Nguyen NT; Ngo VD; Nguyen HN; Ly TTH; Do HD; Huynh MT
BMC Med Genet; 2020 Jan; 21(1):18. PubMed ID: 32000717
[TBL] [Abstract][Full Text] [Related]
8. Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Tzoulis C; Johansson S; Haukanes BI; Boman H; Knappskog PM; Bindoff LA
PLoS One; 2013; 8(6):e66145. PubMed ID: 23785480
[TBL] [Abstract][Full Text] [Related]
9. Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
Shen Y; Wang H; Liu Z; Luo M; Ma S; Lu C; Cao Z; Yu Y; Cai R; Chen C; Li Q; Gao H; Peng Y; Xu B; Ma X
BMC Med Genet; 2020 Oct; 21(1):192. PubMed ID: 33004012
[TBL] [Abstract][Full Text] [Related]
10. Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
Koyama S; Sato H; Wada M; Kawanami T; Emi M; Kato T
BMC Med Genet; 2017 Mar; 18(1):37. PubMed ID: 28347285
[TBL] [Abstract][Full Text] [Related]
11. [Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].
Su Y; Xie J; Yu S; Luo H; Wu W; Xu Z
Zhonghua Er Ke Za Zhi; 2015 Jun; 53(6):431-5. PubMed ID: 26310553
[TBL] [Abstract][Full Text] [Related]
12. Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.
Sahin T; Karaarslan FT; Yilmaz R; Tekgül Ş; Başak AN; Akbostanci MC
Clin Neurol Neurosurg; 2021 Feb; 201():106423. PubMed ID: 33348119
[No Abstract] [Full Text] [Related]
13. Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Luo M; Cao L; Cao Z; Ma S; Shen Y; Yang D; Lu C; Lin Z; Liu Z; Yu Y; Cai R; Chen C; Gao H; Wang X; Cao M; Ma X
Mol Genet Genomic Med; 2019 Dec; 7(12):e1004. PubMed ID: 31625690
[TBL] [Abstract][Full Text] [Related]
14. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Wang JL; Yang X; Xia K; Hu ZM; Weng L; Jin X; Jiang H; Zhang P; Shen L; Guo JF; Li N; Li YR; Lei LF; Zhou J; Du J; Zhou YF; Pan Q; Wang J; Wang J; Li RQ; Tang BS
Brain; 2010 Dec; 133(Pt 12):3510-8. PubMed ID: 21106500
[TBL] [Abstract][Full Text] [Related]
15. A novel GBA2 gene missense mutation in spastic ataxia.
Votsi C; Zamba-Papanicolaou E; Middleton LT; Pantzaris M; Christodoulou K
Ann Hum Genet; 2014 Jan; 78(1):13-22. PubMed ID: 24252062
[TBL] [Abstract][Full Text] [Related]
16. The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Vural A; Şimşir G; Tekgül Ş; Koçoğlu C; Akçimen F; Kartal E; Şen NE; Lahut S; Ömür Ö; Saner N; Gül T; Bayraktar E; Palvadeau R; Tunca C; Pirkevi Çetinkaya C; Gündoğdu Eken A; Şahbaz I; Kovancılar Koç M; Öztop Çakmak Ö; Hanağası H; Bilgiç B; Eraksoy M; Gündüz A; Apaydın H; Kızıltan G; Özekmekçi S; Siva A; Altıntaş A; Kaya Güleç ZE; Parman Y; Oflazer P; Deymeer F; Durmuş H; Şahin E; Çakar A; Tüfekçioğlu Z; Tektürk P; Çorbalı MO; Tireli H; Akdal G; Yiş U; Hız S; Şengün İ; Bora E; Serdaroğlu G; Erer Özbek S; Ağan K; İnce Günal D; Us Ö; Kurt SG; Aksoy D; Bora Tokçaer A; Elmas M; Gültekin M; Kumandaş S; Acer H; Kaya Özçora GD; Yayla V; Soysal A; Genç G; Güllüoğlu H; Kotan D; Özözen Ayas Z; Şahin HA; Tan E; Topçu M; Topçuoğlu ES; Akbostancı C; Koç F; Ertan S; Elibol B; Başak AN
Mov Disord; 2021 Jul; 36(7):1676-1688. PubMed ID: 33624863
[TBL] [Abstract][Full Text] [Related]
17. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
Lu C; Zheng YC; Dong Y; Li HF
BMC Neurol; 2016 Sep; 16(1):179. PubMed ID: 27644330
[TBL] [Abstract][Full Text] [Related]
18. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Choquet K; Tétreault M; Yang S; La Piana R; Dicaire MJ; Vanstone MR; Mathieu J; Bouchard JP; Rioux MF; Rouleau GA; ; Boycott KM; Majewski J; Brais B
Eur J Hum Genet; 2016 Jul; 24(7):1016-21. PubMed ID: 26626314
[TBL] [Abstract][Full Text] [Related]
19. Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Parkinson MH; Bartmann AP; Clayton LMS; Nethisinghe S; Pfundt R; Chapple JP; Reilly MM; Manji H; Wood NJ; Bremner F; Giunti P
Brain; 2018 Apr; 141(4):989-999. PubMed ID: 29538656
[TBL] [Abstract][Full Text] [Related]
20. Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A; Babaei M; Saberi M; Golchin N; Khalil Nejad Sani Banaei A; Eshaghkhani Y; Golchehre Z; Keramatipour M
Mol Biol Rep; 2021 Jun; 48(6):5339-5345. PubMed ID: 34191236
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
