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Items: 1 to 20 of 65

1.
Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias
Hannah K Shorrock, Claudia D Lennon, Asmer Aliyeva, Emily E Davey, Cristina C DeMeo, Caroline E Pritchard, Lori Planco, Jose M Velez, Alexandra Mascorro-Huamancaja, Damian S Shin, John D Cleary, J Andrew Berglund
Brain. 2024 Feb; 147(2): 486–504. Published online 2023 Sep 30. doi: 10.1093/brain/awad329
PMCID:
PMC10834251
ArticlePDF–2.1M
2.
PolyQ Database—an integrated database on polyglutamine diseases
Bernardo Estevam, Carlos A Matos, Clévio Nóbrega
Database (Oxford) 2023; 2023: baad060. Published online 2023 Aug 18. doi: 10.1093/database/baad060
PMCID:
PMC10440501
ArticlePDF–2.5M
3.
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel
BMC Med Genomics. 2023; 16: 143. Published online 2023 Jun 21. doi: 10.1186/s12920-023-01582-z
PMCID:
PMC10283289
ArticlePDF–1.3M
4.
Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy
Franziska Hopfner, Anja K. Tietz, Viktoria C. Ruf, Owen A. Ross, Shunsuke Koga, Dennis Dickson, Adriano Aguzzi, Johannes Attems, Thomas Beach, Allison Beller, William P. Cheshire, Vivianna van Deerlin, Paula Desplats, Günther Deuschl, Charles Duyckaerts, David Ellinghaus, Valentin Evsyukov, Margaret Ellen Flanagan, Andre Franke, Matthew P. Frosch, Marla Gearing, Ellen Gelpi, Jay A. van Gerpen, Bernardino Ghetti, Jonathan D. Glass, Lea T. Grinberg, Glenda Halliday, Ingo Helbig, Matthias Höllerhage, Inge Huitinga, David John Irwin, Dirk C. Keene, Gabor G. Kovacs, Edward B. Lee, Johannes Levin, Maria J. Martí, Ian Mackenzie, Ian McKeith, Catriona Mclean, Brit Mollenhauer, Manuela Neumann, Kathy L. Newell, Alex Pantelyat, Manuela Pendziwiat, Annette Peters, Laura Molina Porcel, Alberto Rabano, Radoslav Matěj, Alex Rajput, Ali Rajput, Regina Reimann, William K. Scott, William Seeley, Sashika Selvackadunco, Tanya Simuni, Christine Stadelmann, Per Svenningsson, Alan Thomas, Claudia Trenkwalder, Claire Troakes, John Q. Trojanowski, Ryan J. Uitti, Charles L. White, Zbigniew K. Wszolek, Tao Xie, Teresa Ximelis, Yebenes Justo, Alzheimer’s Disease Genetics Consortium, Ulrich Müller, Gerard D. Schellenberg, Jochen Herms, Gregor Kuhlenbäumer, Günter Höglinger
Mov Disord. Author manuscript; available in PMC 2023 Oct 1.
Published in final edited form as: Mov Disord. 2022 Oct; 37(10): 2110–2121. Published online 2022 Aug 23. doi: 10.1002/mds.29164
PMCID:
PMC10052809
ArticlePDF–1.2M
5.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
Yasmin Namavar, Peter G. Barth, Paul R. Kasher, Fred van Ruissen, Knut Brockmann, Günther Bernert, Karin Writzl, Karen Ventura, Edith Y. Cheng, Donna M. Ferriero, Lina Basel-Vanagaite, Veerle R. C. Eggens, Ingeborg Krägeloh-Mann, Linda De Meirleir, Mary King, John M. Graham, Jr, Arpad von Moers, Nine Knoers, Laszlo Sztriha, Rudolf Korinthenberg, PCH Consortium, William B. Dobyns, Frank Baas, Bwee Tien Poll-The
Brain. 2011 Jan; 134(1): 143–156. Published online 2010 Oct 15. doi: 10.1093/brain/awq287
PMCID:
PMC9136852
ArticlePDF–391K
6.
De Novo Variant in KIF26B isAssociated with Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy
Monica H. Wojcik, Kyoko Okada, Sanjay P. Prabhu, Dan W. Nowakowski, Keri Ramsey, Chris Balak, Sampath Rangasamy, Catherine A. Brownstein, Klaus Schmitz-Abe, Julie S Cohen, Ali Fatemi, Jiahai Shi, Ellen P. Grant, Vinodh Narayanan, Hsin-Yi Henry Ho, Pankaj B. Agrawal
Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 1.
Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2623–2629. Published online 2018 Aug 27. doi: 10.1002/ajmg.a.40493
PMCID:
PMC6481602
ArticlePDF–665K
7.
Converging Patterns of α-Synuclein Pathology in Multiple System Atrophy
Johannes Brettschneider, EunRan Suh, John L Robinson, Lubin Fang, Edward B Lee, David J Irwin, Murray Grossman, Vivianna M Van Deerlin, Virginia M -Y Lee, John Q Trojanowski
J Neuropathol Exp Neurol. 2018 Nov; 77(11): 1005–1016. Published online 2018 Sep 7. doi: 10.1093/jnen/nly080
PMCID:
PMC6181179
ArticlePDF–962K
8.
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations
Ligia Elena González-Serrano, Loukmane Karim, Florian Pierre, Hagen Schwenzer, Agnès Rötig, Arnold Munnich, Marie Sissler
J Biol Chem. 2018 Aug 31; 293(35): 13604–13615. Published online 2018 Jul 13. doi: 10.1074/jbc.RA118.003400
PMCID:
PMC6120215
ArticlePDF–2.3M
9.
Immunohistochemical and Molecular Investigations Show Alteration in the Inflammatory Profile of Multiple System Atrophy Brain
Aoife P Kiely, Christina E Murray, Sandrine C Foti, Bridget C Benson, Robert Courtney, Catherine Strand, Tammaryn Lashley, Janice L Holton
J Neuropathol Exp Neurol. 2018 Jul; 77(7): 598–607. Published online 2018 Apr 23. doi: 10.1093/jnen/nly035
PMCID:
PMC6005028
ArticlePDF–365K
10.
Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae
Abby Gillespie, Jason Gabunilas, Joanna C. Jen, Guillaume F. Chanfreau
RNA. 2017 Apr; 23(4): 466–472. doi: 10.1261/rna.060004.116
PMCID:
PMC5340910
ArticlePDF–802K
11.
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
S. Lühl, H. Bode, W. Schlötzer, M. Bartsakoulia, R. Horvath, A. Abicht, M. Stenzel, J. Kirschner, S. C. Grünert
Orphanet J Rare Dis. 2016; 11: 140. Published online 2016 Oct 21. doi: 10.1186/s13023-016-0525-9
PMCID:
PMC5073905
ArticlePDF–1.2M
12.
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
Hülya Maraş-Genç, Emek Uyur-Yalçın, Rasim Özgür Rosti, Joseph G. Gleeson, Bülent Kara
Turk J Pediatr. Author manuscript; available in PMC 2016 Aug 19.
Published in final edited form as: Turk J Pediatr. 2015 May-Jun; 57(3): 286–289.
PMCID:
PMC4991034
ArticlePDF–259K
13.
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations
Nichola Z. Lax, Charlotte L. Alston, Katherine Schon, Soo-Mi Park, Deepa Krishnakumar, Langping He, Gavin Falkous, Amanda Ogilvy-Stuart, Christoph Lees, Rosalind H. King, Iain P. Hargreaves, Garry K. Brown, Robert McFarland, Andrew F. Dean, Robert W. Taylor
J Neuropathol Exp Neurol. 2015 Jul; 74(7): 688–703. Published online 2015 Jun 16. doi: 10.1097/NEN.0000000000000209
PMCID:
PMC4470523
ArticlePDF–36M
14.
The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients
Fatma Mujgan Sonmez, Joseph G. Gleeson, Figen Celep, Sibel Kul
J Child Neurol. Author manuscript; available in PMC 2015 May 25.
Published in final edited form as: J Child Neurol. 2013 Mar; 28(3): 379–383. Published online 2012 Apr 24. doi: 10.1177/0883073812441065
PMCID:
PMC4442636
ArticlePDF–486K
15.
Natural course of pontocerebellar hypoplasia type 2A
Iciar Sánchez-Albisua, Saskia Frölich, Peter G Barth, Maja Steinlin, Ingeborg Krägeloh-Mann
Orphanet J Rare Dis. 2014; 9: 70. Published online 2014 May 5. doi: 10.1186/1750-1172-9-70
PMCID:
PMC4019562
ArticlePDF–907K
16.
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
Veerle RC Eggens, Peter G Barth, Jikke-Mien F Niermeijer, Jonathan N Berg, Niklas Darin, Abhijit Dixit, Joel Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas Jacques, Mary D King, Periklis Makrythanasis, Adrienn Máté, James AR Nicoll, Declan O’Rourke, Sue Price, Andrew N Williams, Louise Wilson, Mohnish Suri, Laszlo Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles BLM Majoie, Henk A Marquering, Bwee Tien Poll-Thé, Frank Baas
Orphanet J Rare Dis. 2014; 9: 23. Published online 2014 Feb 13. doi: 10.1186/1750-1172-9-23
PMCID:
PMC3928094
ArticlePDF–1.0M
17.
AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder
Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith S. Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma Mujgan Sonmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Al-Baradie, Eissa Faqeih, Mohammad Saleh, Emily Spencer, Rasim Ozgur Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson
Cell. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Cell. 2013 Aug 1; 154(3): 10.1016/j.cell.2013.07.005. doi: 10.1016/j.cell.2013.07.005
PMCID:
PMC3815927
ArticlePDF–2.0M
18.
Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations
Sabine Rudnik-Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul-Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, Laszlo Sztriha, Jaume Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, Peter Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres
Neurology. 2013 Jan 29; 80(5): 438–446. doi: 10.1212/WNL.0b013e31827f0f66
PMCID:
PMC3590055
ArticlePDF–574K
19.
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy
Fadi F Hamdan, Hirotomo Saitsu, Kiyomi Nishiyama, Julie Gauthier, Sylvia Dobrzeniecka, Dan Spiegelman, Jean-Claude Lacaille, Jean-Claude Décarie, Naomichi Matsumoto, Guy A Rouleau, Jacques L Michaud
Eur J Hum Genet. 2012 Jul; 20(7): 796–800. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.271
PMCID:
PMC3376261
ArticlePDF–428K
20.
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik-Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul-Neumann, Andrew J. Kornberg, Manuel Castro-Gago, María-Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen
Nat Genet. Author manuscript; available in PMC 2012 Dec 1.
Published in final edited form as: Nat Genet. 2012 Jun; 44(6): 704–708. Published online 2012 Apr 29. doi: 10.1038/ng.2254
PMCID:
PMC3366034
ArticlePDF–1.7M

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