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Year Number of Results
2016 13
2017 18
2018 28
2019 24
2020 17
2021 3
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86 results
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What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
van Dijk T, Baas F, Barth PG, Poll-The BT. van Dijk T, et al. Orphanet J Rare Dis. 2018 Jun 15;13(1):92. doi: 10.1186/s13023-018-0826-2. Orphanet J Rare Dis. 2018. PMID: 29903031 Free PMC article. Review.
BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial stru …
BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with …
Fetal cerebellar disorders.
Lerman-Sagie T, Prayer D, Stöcklein S, Malinger G. Lerman-Sagie T, et al. Handb Clin Neurol. 2018;155:3-23. doi: 10.1016/B978-0-444-64189-2.00001-9. Handb Clin Neurol. 2018. PMID: 29891067 Review.
The RNA exosome and RNA exosome-linked disease.
Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH, Fasken MB. Morton DJ, et al. RNA. 2018 Feb;24(2):127-142. doi: 10.1261/rna.064626.117. Epub 2017 Nov 1. RNA. 2018. PMID: 29093021 Free PMC article. Review.
Mutations in the RNA exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are similar autosomal-recessive, neurodegenerative diseases. ...
Mutations in the RNA exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), res …
The RNA Exosome and Human Disease.
Fasken MB, Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH. Fasken MB, et al. Methods Mol Biol. 2020;2062:3-33. doi: 10.1007/978-1-4939-9822-7_1. Methods Mol Biol. 2020. PMID: 31768969 Review.
In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are related autosomal recessive, neurodegenerative diseases. ...
In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and …
Phenotypic spectrum of neonatal CHARGE syndrome.
Sánchez N, Hernández M, Cruz JP, Mellado C. Sánchez N, et al. Rev Chil Pediatr. 2019 Oct;90(5):533-538. doi: 10.32641/rchped.v90i5.1080. Rev Chil Pediatr. 2019. PMID: 31859737 Free article. English, Spanish.
The neuroimaging study showed hypo plasia of the cochlea and bilateral semicircular canals, and pontocerebellar hypoplasia. The auditory evoked potentials showed deep right-sided sensorineural hearing loss and left anacusis. The patient developed hypocalcemia and im …
The neuroimaging study showed hypo plasia of the cochlea and bilateral semicircular canals, and pontocerebellar hypoplasia. Th …
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. Chai G, et al. Neuron. 2021 Jan 20;109(2):241-256.e9. doi: 10.1016/j.neuron.2020.10.035. Epub 2020 Nov 20. Neuron. 2021. PMID: 33220177
Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving pontocerebellar
Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of seve …
Conventional MRI.
Arrigoni F, Calloni S, Huisman TAGM, Chiapparini L. Arrigoni F, et al. Handb Clin Neurol. 2018;154:219-234. doi: 10.1016/B978-0-444-63956-1.00013-8. Handb Clin Neurol. 2018. PMID: 29903441 Review.
Moreover, we briefly discuss two main topics regarding conventional MRI of the cerebellum that have generated some debate in recent years: the differentiation between cerebellar atrophy, hypoplasia, and pontocerebellar hypoplasia, and signal changes of dentat …
Moreover, we briefly discuss two main topics regarding conventional MRI of the cerebellum that have generated some debate in recent years: t …
Developmental outcomes in children with congenital cerebellar malformations.
Pinchefsky EF, Accogli A, Shevell MI, Saint-Martin C, Srour M. Pinchefsky EF, et al. Dev Med Child Neurol. 2019 Mar;61(3):350-358. doi: 10.1111/dmcn.14059. Epub 2018 Oct 15. Dev Med Child Neurol. 2019. PMID: 30320441 Free article.
RESULTS: CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hypoplasia (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent pontocerebellar hypoplasia (PCH, n=9), 9 percent …
RESULTS: CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hy
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.
Kahn-Kirby AH, Amagata A, Maeder CI, Mei JJ, Sideris S, Kosaka Y, Hinman A, Malone SA, Bruegger JJ, Wang L, Kim V, Shrader WD, Hoff KG, Latham JC, Ashley EA, Wheeler MT, Bertini E, Carrozzo R, Martinelli D, Dionisi-Vici C, Chapman KA, Enns GM, Gahl W, Wolfe L, Saneto RP, Johnson SC, Trimmer JK, Klein MB, Holst CR. Kahn-Kirby AH, et al. PLoS One. 2019 Mar 28;14(3):e0214250. doi: 10.1371/journal.pone.0214250. eCollection 2019. PLoS One. 2019. PMID: 30921410 Free PMC article.
The clinical-stage therapeutic vatiquinone (EPI-743, alpha-tocotrienol quinone) was reported to reduce seizure frequency and associated morbidity in children with the mitochondrial disorder pontocerebellar hypoplasia type 6. We sought to elucidate the molecular mech …
The clinical-stage therapeutic vatiquinone (EPI-743, alpha-tocotrienol quinone) was reported to reduce seizure frequency and associated morb …
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Lardelli RM, et al. Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16. Nat Genet. 2017. PMID: 28092684 Free PMC article.
The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg(2+)-dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type 7 (PCH7) is a unique recessive syndrome characterized by neurod …
The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg(2+)-dependent 3'-end RNases with substrate speci …
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