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Select item 79603011.

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 73995342.

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 74194253.

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 41027694.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Veronika Boczonadi, Juliane S. Müller, Angela Pyle, Jennifer Munkley, Talya Dor, Jade Quartararo, Ileana Ferrero, Veronika Karcagi, Michele Giunta, Tuomo Polvikoski, Daniel Birchall, Agota Princzinger, Yuval Cinnamon, Susanne Lützkendorf, Henriett Piko, Mojgan Reza, Laura Florez, Mauro Santibanez-Koref, Helen Griffin, Markus Schuelke, Orly Elpeleg, Luba Kalaydjieva, Hanns Lochmüller, David J. Elliott, Patrick F. Chinnery, Shimon Edvardson, Rita Horvath

Nat Commun. 2014 Jul 3; 5: 4287. Published online 2014 Jul 3. doi: 10.1038/ncomms5287

PMCID:: PMC4102769

Abstract Article PDF–5.3M

Select item 40359215.

Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function

Kathleen J. Millen, Ekaterina Y. Steshina, Igor Y. Iskusnykh, Victor V. Chizhikov

Proc Natl Acad Sci U S A. 2014 Apr 29; 111(17): E1777–E1786. Published online 2014 Apr 14. doi: 10.1073/pnas.1315024111

PMCID:: PMC4035921

Abstract Article PDF–2.9M

Select item 39844106.

Cerebellar Hypoplasia in Mice Lacking Selenoprotein Biosynthesis in Neurons

Eva K. Wirth, B. Suman Bharathi, Dolph Hatfield, Marcus Conrad, Markus Brielmeier, Ulrich Schweizer

Biol Trace Elem Res. 2014; 158(2): 203–210. Published online 2014 Mar 6. doi: 10.1007/s12011-014-9920-z

PMCID:: PMC3984410

Abstract Article PDF–8.4M

Select item 39348067.

A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23

Fatih Bayrakli, Mehmet Canpolat, Huseyin Per, Hakan Gumus, Sefer Kumandas, Ugur Kartal, Hatice Balaban

Case Rep Neurol. 2014 Jan-Apr; 6(1): 18–22. Published online 2014 Jan 23. doi: 10.1159/000357172

PMCID:: PMC3934806

Abstract Article PDF–800K

Select item 38342698.

Identification of a 31-bp Deletion in the RELN Gene Causing Lissencephaly with Cerebellar Hypoplasia in Sheep

Aroa Suárez-Vega, Beatriz Gutiérrez-Gil, Inmaculada Cuchillo-Ibáñez, Javier Sáez-Valero, Valentín Pérez, Elsa García-Gámez, Julio Benavides, Juan Jose Arranz

PLoS One. 2013; 8(11): e81072. Published online 2013 Nov 19. doi: 10.1371/journal.pone.0081072

PMCID:: PMC3834269

Abstract Article PDF–1.4M

Select item 78302349.

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 378982410.

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

Samin A. Sajan, Liliana Fernandez, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L. Christian, Jean-Baptiste Rivière, Christopher T. Sullivan, Jyotsna Sudi, Michael J. Herriges, Alexander R. Paciorkowski, A. James Barkovich, Joseph T. Glessner, Kathleen J. Millen, Hakon Hakonarson, William B. Dobyns, Elliott H. Sherr

PLoS Genet. 2013 Oct; 9(10): e1003823. Published online 2013 Oct 3. doi: 10.1371/journal.pgen.1003823

PMCID:: PMC3789824

Abstract Article PDF–1.4M

Select item 378680611.

N-methyl-N-nitrosourea-induced cerebellar hypoplasia in rats: Effect of arachidonic acid supplementation during the gestational, lactational and post-weaning periods

KATSUHIKO YOSHIZAWA, YUKO EMOTO, YUICHI KINOSHITA, TAKASHI YURI, AIRO TSUBURA

Exp Ther Med. 2013 Sep; 6(3): 627–634. Published online 2013 Jul 12. doi: 10.3892/etm.2013.1219

PMCID:: PMC3786806

Abstract Article PDF–674K

Select item 737760412.

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 375050913.

Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs

Valentín Pérez, Aroa Suárez-Vega, Miguel Fuertes, Julio Benavides, Laetitia Delgado, M Carmen Ferreras, Juan José Arranz

BMC Vet Res. 2013; 9: 156. Published online 2013 Aug 9. doi: 10.1186/1746-6148-9-156

PMCID:: PMC3750509

Abstract Article PDF–2.6M

Select item 372261914.

MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation

Rashid Saleem, Gururaj Setty, Nahin Hussain

Indian J Hum Genet. 2013 Jan-Mar; 19(1): 104–107. doi: 10.4103/0971-6866.112921

PMCID:: PMC3722619

Abstract Article PDF–282K

Select item 844067515.

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 849156716.

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 864517717.

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 347620818.

SUNCT syndrome or first division trigeminal neuralgia associated with cerebellar hypoplasia

Alessandro Panconesi, Maria Letizia Bartolozzi, Leonello Guidi

J Headache Pain. 2009 Dec; 10(6): 461–464. Published online 2009 Sep 16. doi: 10.1007/s10194-009-0152-0

PMCID:: PMC3476208

Summary PDF–116K

Select item 341579519.

New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

Maha S Zaki, Ghada M H Abdel Salam, Sahar N Saleem, William B Dobyns, Mahmoud Y Issa, Shifteh Sattar, Joseph G Gleeson

Am J Med Genet A. 2011 Dec; 155(12): 3035–3041. Published online 2011 Oct 14. doi: 10.1002/ajmg.a.34078

PMCID:: PMC3415795

Abstract Article PDF–15M

Select item 878278120.

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

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