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
2002 1
2016 1
2017 1
2018 1
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Somashekar PH, Kaur P, Stephen J, Guleria VS, Kadavigere R, Girisha KM, Bielas S, Upadhyai P, Shukla A. Somashekar PH, et al. Clin Genet. 2021 Apr;99(4):594-600. doi: 10.1111/cge.13928. Epub 2021 Jan 28. Clin Genet. 2021. PMID: 33463720 Free PMC article. Review.
Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively, while those in EXOSC2 cause short stature, hearing loss, retinitis pigmentosa an …
Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia ty
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A. Ivanov I, et al. Eur J Paediatr Neurol. 2018 Jul;22(4):674-681. doi: 10.1016/j.ejpn.2018.03.011. Epub 2018 Apr 3. Eur J Paediatr Neurol. 2018. PMID: 29656927 Review.
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). ...Mutations with milder presentation (homozygous p.D132A/EXOSC3 or VRK1) may display additionally signs of upper motor neuron impairment, dystonia or ataxia an
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). ...Mutations with mi
The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation.
Huynh TN, Parker R. Huynh TN, et al. J Biol Chem. 2023 Sep;299(9):105139. doi: 10.1016/j.jbc.2023.105139. Epub 2023 Aug 6. J Biol Chem. 2023. PMID: 37544646 Free PMC article. Review.
One mechanism for the degradation of ncRNAs involves the addition of oligo(A) tails by non-canonical poly(A) polymerases, which then recruit processive sequence-independent 3' to 5' exonucleases for RNA degradation. This pathway of decay is also regulated by three 3' to …
One mechanism for the degradation of ncRNAs involves the addition of oligo(A) tails by non-canonical poly(A) polymerases, which then recruit …
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll-The BT. van Dijk T, et al. Am J Med Genet A. 2017 Jan;173(1):207-212. doi: 10.1002/ajmg.a.37962. Epub 2016 Nov 9. Am J Med Genet A. 2017. PMID: 27862915 Review.
We report a de novo missense mutation (c.7649T>A) in the inositol, 1,4,5 triphosphate receptor type 1 (ITPR1) gene in a patient with severe pontocerebellar hypoplasia. ...
We report a de novo missense mutation (c.7649T>A) in the inositol, 1,4,5 triphosphate receptor type 1 (ITPR1) gene in a pat …
[Carbohydrate-deficient glycoprotein syndrome and progression in electrophysiological results].
Bourcier F, Billard C, Toutain A, Delplace MP. Bourcier F, et al. J Fr Ophtalmol. 2002 Jun;25(6):584-9. J Fr Ophtalmol. 2002. PMID: 12223944 Review. French.
PURPOSE: To document the progression of clinical and electrophysiological abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome type Ia (CDGS Ia) over a period of 5 years. PATIENT AND METHODS: A 12-month-old male underwent clinical ophthalmic …
PURPOSE: To document the progression of clinical and electrophysiological abnormalities in an infant with carbohydrate-deficient glycoprotei …