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
2002 2
2016 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Brain morphometry in Pontocerebellar Hypoplasia type 2.
Ekert K, Groeschel S, Sánchez-Albisua I, Frölich S, Dieckmann A, Engel C, Krägeloh-Mann I. Ekert K, et al. Orphanet J Rare Dis. 2016 Jul 19;11(1):100. doi: 10.1186/s13023-016-0481-4. Orphanet J Rare Dis. 2016. PMID: 27430971 Free PMC article.
BACKGROUND: Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. ...Supratentorial brain structures, which are considered nor …
BACKGROUND: Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to sever …
Pontocerebellar hypoplasia type 2 and Reye-like syndrome.
Sans-Fitó A, Campistol-Plana J, Mas-Salguero MJ, Póo-Argüelles P, Fernández-Alvarez E. Sans-Fitó A, et al. J Child Neurol. 2002 Feb;17(2):132-4. doi: 10.1177/088307380201700208. J Child Neurol. 2002. PMID: 11952074
Two subtypes of pontocerebellar hypoplasia have been described on the basis of clinical and neuropathologic criteria. Pontocerebellar hypoplasia type 2 is characterized by progressive microcephaly, early onset of extrapyramidal dyskinesia, and near abs …
Two subtypes of pontocerebellar hypoplasia have been described on the basis of clinical and neuropathologic criteria. Pontocerebellar …
Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa.
Grosso S, Mostadini R, Cioni M, Galluzzi P, Morgese G, Balestri P. Grosso S, et al. J Neurol. 2002 May;249(5):596-600. doi: 10.1007/s004150200069. J Neurol. 2002. PMID: 12021950
Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. ...Neuroradiologically, patient 2 showed extensive pancerebral degeneration. Based on these observations, and in accordance with the published cases, two group …
Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. ...Neuroradiologically, pa …
Fatal outcome in a case of pontocerebellar hypoplasia type 2.
Grellner W, Rohde K, Wilske J. Grellner W, et al. Forensic Sci Int. 2000 Sep 11;113(1-3):165-72. doi: 10.1016/s0379-0738(00)00270-x. Forensic Sci Int. 2000. PMID: 10978619
Histologically, decreased density of olivo-pontine neurons, reduction of granular and Purkinje's cell layers of the cerebellum, slight astroglial proliferation and fragmented appearance of the dentate nuclei were observed. The immunohistochemical expression pattern was det …
Histologically, decreased density of olivo-pontine neurons, reduction of granular and Purkinje's cell layers of the cerebellum, slight astro …
The impact of severe rare chronic neurological disease in childhood on the quality of life of families-a study on MLD and PCH2.
Ammann-Schnell L, Groeschel S, Kehrer C, Frölich S, Krägeloh-Mann I. Ammann-Schnell L, et al. Orphanet J Rare Dis. 2021 May 10;16(1):211. doi: 10.1186/s13023-021-01828-y. Orphanet J Rare Dis. 2021. PMID: 33971942 Free PMC article.
The aim of this study was to investigate the impact of such diseases on the family, especially on the quality of life and life perspectives of parents, but also on the families' everyday life, based on the model of two diseases which have been well described in recent years with …
The aim of this study was to investigate the impact of such diseases on the family, especially on the quality of life and life perspectives …