Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 1
2017 1
2018 3
2020 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Spinocerebellar ataxia, autosomal recessive 31"
Page 1
Long-term follow-up in infantile-onset SCAR18: A case report.
Iodice A, Spagnoli C, Cangini M, Soliani L, Rizzi S, Salerno GG, Frattini D, Pisani F, Fusco C. Iodice A, et al. J Clin Neurosci. 2020 Jul;77:232-234. doi: 10.1016/j.jocn.2020.05.008. Epub 2020 May 6. J Clin Neurosci. 2020. PMID: 32387255
Autosomal recessive spinocerebellar ataxia type 18 (SCAR18) is caused by pathogenic variants in the Glutamate Receptor, Ionotropic, Delta-2 (GRID2) gene. ...
Autosomal recessive spinocerebellar ataxia type 18 (SCAR18) is caused by pathogenic variants in the Glutamate Re …
A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia.
Abitbol M, Jagannathan V, Laurent N, Noblet E, Dutil GF, Troupel T, de Dufaure de Citres C, Gache V, Blot S, Escriou C, Leeb T. Abitbol M, et al. Anim Genet. 2022 Oct;53(5):709-712. doi: 10.1111/age.13245. Epub 2022 Jul 21. Anim Genet. 2022. PMID: 35864734 Free PMC article.
Hereditary ataxias are common among canine breeds with various molecular etiology. ...Pedigree analysis suggested an autosomal recessive transmission. By whole genome sequencing and variant filtering of an affected dog we identified a PNPLA8:c.1169_1170dupTT …
Hereditary ataxias are common among canine breeds with various molecular etiology. ...Pedigree analysis suggested an autosomal …
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
Li A, Swift M. Li A, et al. Am J Med Genet. 2000 May 29;92(3):170-7. doi: 10.1002/(sici)1096-8628(20000529)92:3<170::aid-ajmg3>3.0.co;2-#. Am J Med Genet. 2000. PMID: 10817650
Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer, ischemic heart disease, and early mortality. ...Alterations of the length or am …
Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessive syn …
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.
Zheng R, Zhao Y, Wu J, Wang Y, Liu JL, Zhou ZL, Zhou XT, Chen DN, Liao WH, Li JD. Zheng R, et al. Mol Med Rep. 2018 Jul;18(1):261-267. doi: 10.3892/mmr.2018.8955. Epub 2018 May 3. Mol Med Rep. 2018. PMID: 29749493 Free PMC article. Clinical Trial.
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher-Neuhauser syndrome (BNS), which has been associated with autosomal-recessive mutations in the patatin-like phospholipase domain containing 6 (PNPLA6 …
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher-Neuhauser syndrome (BN …
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 mutation in two …
The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such a …
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. Kurihara M, et al. Cerebellum. 2018 Apr;17(2):237-242. doi: 10.1007/s12311-017-0883-4. Cerebellum. 2018. PMID: 28895081
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. ...Although autosomal recessive diseases are more common in patients with early onset sporadic cerebellar ataxia …
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 fa …
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
Turkgenc B, Sanlidag B, Eker A, Giray A, Kutuk O, Yakicier C, Tolun A, Temel SG. Turkgenc B, et al. Hum Mutat. 2018 Oct;39(10):1344-1348. doi: 10.1002/humu.23601. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30058754
We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. In a region of shared homozyg …
We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage wit …