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Select item 104739721.

Unilateral cerebellar hypoplasia in a 9-year-old child with chronic granulomatous disease: A case report

Ali Hajihashemi, Mahsa Geravandi

Radiol Case Rep. 2023 Nov; 18(11): 3908–3911. Published online 2023 Aug 26. doi: 10.1016/j.radcr.2023.08.009

PMCID:: PMC10473972

Abstract Article PDF–535K

Select item 99461912.

Relationship of Impairments in Associative Learning With Intellectual Disability and Cerebellar Hypoplasia in Autistic Children

John P. Welsh, Jeffrey Munson, Tanya St John, Christina N. Meehan, Elise Tran Abraham, Frederick B. Reitz, K. Kawena Begay, Stephen R. Dager, Annette M. Estes

Neurology. 2023 Feb 7; 100(6): e639–e650. doi: 10.1212/WNL.0000000000201496

PMCID:: PMC9946191

Abstract Article PDF–1.1M

Select item 99239313.

Disruption of protein geranylgeranylation in the cerebellum causes cerebellar hypoplasia and ataxia via blocking granule cell progenitor proliferation

Qi Cheng, Jing Wu, Yingqian Xia, Qing Cheng, Yinjuan Zhao, Peixiang Zhu, Wangling Zhang, Shihu Zhang, Lei Zhang, Yushan Yuan, Chaojun Li, Guiquan Chen, Bin Xue

Mol Brain. 2023; 16: 24. Published online 2023 Feb 13. doi: 10.1186/s13041-023-01010-4

PMCID:: PMC9923931

Abstract Article PDF–8.3M

Select item 98380534.

PRC2 disruption in cerebellar progenitors produces cerebellar hypoplasia and aberrant myoid differentiation without blocking medulloblastoma growth

Abigail H. Cleveland, Daniel Malawsky, Mehal Churiwal, Claudia Rodriguez, Frances Reed, Matthew Schniederjan, Jose E. Velazquez Vega, Ian Davis, Timothy R. Gershon

Acta Neuropathol Commun. 2023; 11: 8. Published online 2023 Jan 12. doi: 10.1186/s40478-023-01508-x

PMCID:: PMC9838053

Abstract Article PDF–17M

Select item 95925545.

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia

Ghada M. H. Abdel-Salam, Marian Girgis, Maha M. Eid, Inas S. M. Sayed, Mohamed S. Abdel-Hamid

J Hum Genet. 2022; 67(11): 669–673. Published online 2022 Jul 27. doi: 10.1038/s10038-022-01060-x

PMCID:: PMC9592554

Abstract Article PDF–1.0M

Select item 94903686.

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia

Guilan Xie, Yan Zhang, Wenfang Yang, Liren Yang, Ruiqi Wang, Mengmeng Xu, Landi Sun, Boxing Zhang, Xiaoyi Cui

Front Genet. 2022; 13: 856636. Published online 2022 Sep 7. doi: 10.3389/fgene.2022.856636

PMCID:: PMC9490368

Abstract Article PDF–1.0M

Select item 91780317.

Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia

Maria S. Protasova, Fedor E. Gusev, Tatiana V. Andreeva, Sergey A. Klyushnikov, Sergey N. Illarioshkin, Evgeny I. Rogaev

Eur J Hum Genet. 2022 Jun; 30(6): 703–711. Published online 2022 Mar 29. doi: 10.1038/s41431-022-01088-9

PMCID:: PMC9178031

Abstract Article PDF–1.8M

Select item 91693478.

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia

Sixian Wu, Chuan Jiang, Jiaman Li, Guohui Zhang, Ying Shen, Jing Wang

BMC Med Genomics. 2022; 15: 127. Published online 2022 Jun 6. doi: 10.1186/s12920-022-01275-z

PMCID:: PMC9169347

Abstract Article PDF–2.5M

Select item 91181169.

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Marion Coolen, Nami Altin, Karthyayani Rajamani, Eva Pereira, Karine Siquier-Pernet, Emilia Puig Lombardi, Nadjeda Moreno, Giulia Barcia, Marianne Yvert, Annie Laquerrière, Aurore Pouliet, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Féréchté Razavi, Alexandra Afenjar, Thierry Billette de Villemeur, Almundher Al-Maawali, Khalid Al-Thihli, Julia Baptista, Ana Beleza-Meireles, Catherine Garel, Marine Legendre, Antoinette Gelot, Lydie Burglen, Sébastien Moutton, Vincent Cantagrel

Am J Hum Genet. 2022 May 5; 109(5): 909–927. Published online 2022 Apr 6. doi: 10.1016/j.ajhg.2022.03.010

PMCID:: PMC9118116

Abstract Article PDF–4.6M

Select item 883216510.

Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Nicolas J. Abreu, Amy E. Siemon, Adriane L. Baylis, Richard E. Kirschner, Ruthann B. Pfau, Mai‐Lan Ho, Scott E. Hickey, Kristen V. Truxal

Clin Case Rep. 2022 Feb; 10(2): e05277. Published online 2022 Feb 11. doi: 10.1002/ccr3.5277

PMCID:: PMC8832165

Abstract Article PDF–291K

Select item 878278111.

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Berardo Rinaldi, Yu-Han Ge, Elena Freri, Arianna Tucci, Tiziana Granata, Margherita Estienne, Jia-Hui Sun, Bénédicte Gérard, Allan Bayat, Stephanie Efthymiou, Cristina Gervasini, Yun Stone Shi, Henry Houlden, Paola Marchisio, Donatella Milani

Neurogenetics. 2022; 23(1): 27–35. Published online 2021 Nov 3. doi: 10.1007/s10048-021-00666-1

Correction in:: Neurogenetics. 2022; 23(1): 81.

PMCID:: PMC8782781

Abstract Article PDF–1.3M

Select item 864517712.

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

Claire Balza, Giulia Garofalo, Teresa Cos, Julie Désir, Xin Kang, Kathelijn Keymolen, Julie Soblet, Kim Van Berkel, Catheline Vilain, Wafa Ben Abbou, Marie Cassart

Clin Case Rep. 2021 Dec; 9(12): e04882. Published online 2021 Dec 5. doi: 10.1002/ccr3.4882

Correction in:: Clin Case Rep. 2022 Apr; 10(4): e05672.

PMCID:: PMC8645177

Abstract Article PDF–794K

Select item 849156713.

Corrigendum: Transient Postural Vestibulo-Cerebellar Syndrome in Three Dogs With Presumed Cerebellar Hypoplasia

Miroslav Prikryl, Abby Caine, Viktor Palus

Front Vet Sci. 2021; 8: 691042. Published online 2021 Sep 21. doi: 10.3389/fvets.2021.691042

Corrects:: Front Vet Sci. 2020; 7: 453.

PMCID:: PMC8491567

Correction PDF–95K

Select item 844067514.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Ana Töpf, Angela Pyle, Helen Griffin, Leslie Matalonga, Katherine Schon, Solve-RD SNV-indel working group, Solve-RD DITF-euroNMD, Albert Sickmann, Ulrike Schara–Schmidt, Andreas Hentschel, Patrick F. Chinnery, Heike Kölbel, Andreas Roos, Rita Horvath

Eur J Hum Genet. 2021 Sep; 29(9): 1348–1353. Published online 2021 Jun 1. doi: 10.1038/s41431-021-00851-8

PMCID:: PMC8440675

Abstract Article PDF–1.4M

Select item 796030115.

Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution

S. Fiori, A. Poretti, K. Pannek, R. Del Punta, R. Pasquariello, M. Tosetti, A. Guzzetta, S. Rose, G. Cioni, R. Battini

AJNR Am J Neuroradiol. 2016 May; 37(5): 917–923. doi: 10.3174/ajnr.A4607

PMCID:: PMC7960301

Abstract Article PDF–1.3M

Select item 783023416.

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

Daphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini

Neurol Genet. 2021 Apr; 7(2): e558. Published online 2021 Jan 21. doi: 10.1212/NXG.0000000000000558

PMCID:: PMC7830234

Abstract Article PDF–286K

Select item 741942517.

Transient Postural Vestibulo-Cerebellar Syndrome in Three Dogs With Presumed Cerebellar Hypoplasia

Miroslav Prikryl, Abby Caine, Viktor Palus

Front Vet Sci. 2020; 7: 453. Published online 2020 Aug 5. doi: 10.3389/fvets.2020.00453

Correction in:: Front Vet Sci. 2021; 8: 691042.

PMCID:: PMC7419425

Abstract Article PDF–1.0M

Select item 739953418.

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Anne Slavotinek, Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman, Jennifer E Hurtig, Liz Enyenihi, Maria C Sterrett, Sara W Leung, Dina Schneidman-Duhovny, Juvianee Estrada-Veras, Jacque L Duncan, Charlotte A Haaxma, Erik-Jan Kamsteeg, Vivian Xia, Daniah Beleford, Yue Si, Ganka Douglas, Hans Einar Treidene, Ambro van Hoof, Milo B Fasken, Anita H Corbett

Hum Mol Genet. 2020 Aug 3; 29(13): 2218–2239. Published online 2020 Jun 5. doi: 10.1093/hmg/ddaa108

PMCID:: PMC7399534

Abstract Article PDF–2.0M

Select item 737760419.

Cerebellar hypoplasia and dysplasia in a juvenile raccoon with parvoviral infection

Arno Wünschmann, Robert Lopez-Astacio, Anibal G. Armien, Colin R. Parrish

J Vet Diagn Invest. 2020 May; 32(3): 463–466. Published online 2020 May 13. doi: 10.1177/1040638720912229

PMCID:: PMC7377604

Abstract Article PDF–1.0M

Select item 716127420.

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrière

Acta Neuropathol Commun. 2020; 8: 48. Published online 2020 Apr 15. doi: 10.1186/s40478-020-00929-2

PMCID:: PMC7161274

Abstract Article PDF–1.8M

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