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Items: 14

1.
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
Swetha Ramadesikan, Scott Hickey, Emily De Los Reyes, Anup D. Patel, Samuel J. Franklin, Patrick Brennan, Erin Crist, Kristy Lee, Peter White, Kim L. McBride, Daniel C. Koboldt, Richard K. Wilson
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006165. doi: 10.1101/mcs.a006165
PMCID:
PMC8958912
AbstractArticlePDF–1.3M
2.
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene
Angela Sung, Paolo Moretti, Aziz Shaibani
Neurol Genet. 2021 Aug; 7(4): e599. Published online 2021 Jun 22. doi: 10.1212/NXG.0000000000000599
PMCID:
PMC8220962
AbstractArticlePDF–224K
3.
Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia
Minkyeong Kim, Jong Hyeon Ahn, Jun Kyu Mun, Eun-Hyeok Choi, Ji Sun Kim, Jinyoung Youn, Jin Whan Cho
J Clin Neurol. 2021 Apr; 17(2): 242–248. Published online 2021 Mar 30. doi: 10.3988/jcn.2021.17.2.242
PMCID:
PMC8053557
AbstractArticlePDF–208K
4.
Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1
Shunsuke Koga, J Eric Ahlskog, Michael A DeTure, Matt Baker, Shanu F Roemer, Takuya Konno, Rosa Rademakers, Owen A Ross, Dennis W Dickson
J Neuropathol Exp Neurol. 2019 Aug; 78(8): 756–762. Published online 2019 May 24. doi: 10.1093/jnen/nlz048
PMCID:
PMC6640894
AbstractArticlePDF–875K
5.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
Brain. 2017 Sep; 140(9): 2322–2336. Published online 2017 Aug 24. doi: 10.1093/brain/awx195
PMCID:
PMC6248409
AbstractArticlePDF–741K
6.
Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA)
Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden, Susan J. Hayflick
Ann Neurol. Author manuscript; available in PMC 2018 Jul 25.
Published in final edited form as: Ann Neurol. 2010 Nov; 68(5): 611–618. doi: 10.1002/ana.22122
PMCID:
PMC6059612
AbstractArticlePDF–643K
7.
Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature
Jie Zhang, Zhongbin Zhang, Yao Zhang, Ye Wu
Exp Ther Med. 2018 Jan; 15(1): 1099–1104. Published online 2017 Nov 10. doi: 10.3892/etm.2017.5491
PMCID:
PMC5772945
AbstractArticlePDF–611K
8.
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
AbstractArticlePDF–1.2M
9.
RARS2 mutations in a sibship with infantile spasms
Adeline Ngoh, Jose Bras, Rita Guerreiro, Esther Meyer, Amy McTague, Eleanor Dawson, Kshitij Mankad, Roxana Gunny, Peter Clayton, Philippa B. Mills, Rachel Thornton, Ming Lai, Robert Forsyth, Manju A. Kurian
Epilepsia. 2016 May; 57(5): e97–e102. Published online 2016 Apr 8. doi: 10.1111/epi.13358
PMCID:
PMC4864753
AbstractArticlePDF–339K
10.
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
Ho Tsoi, Allen C S Yu, Zhefan S Chen, Nelson K N Ng, Anne Y Y Chan, Liz Y P Yuen, Jill M Abrigo, Suk Ying Tsang, Stephen K W Tsui, Tony M F Tong, Ivan F M Lo, Stephen T S Lam, Vincent C T Mok, Lawrence K S Wong, Jacky C K Ngo, Kwok-Fai Lau, Ting-Fung Chan, H Y Edwin Chan
J Med Genet. 2014 Sep; 51(9): 590–595. Published online 2014 Jul 25. doi: 10.1136/jmedgenet-2014-102333
PMCID:
PMC4145425
AbstractArticlePDF–1.2M
11.
Progression of Brain Atrophy in Spinocerebellar Ataxia Type 2: A Longitudinal Tensor-Based Morphometry Study
Mario Mascalchi, Stefano Diciotti, Marco Giannelli, Andrea Ginestroni, Andrea Soricelli, Emanuele Nicolai, Marco Aiello, Carlo Tessa, Lucia Galli, Maria Teresa Dotti, Silvia Piacentini, Elena Salvatore, Nicola Toschi
PLoS One. 2014; 9(2): e89410. Published online 2014 Feb 25. doi: 10.1371/journal.pone.0089410
PMCID:
PMC3934889
AbstractArticlePDF–3.4M
12.
Increased Neuronal α-Synuclein Pathology Associates with Its Accumulation in Oligodendrocytes in Mice Modeling α-Synucleinopathies
Haya Kisos, Katharina Pukaß, Tamir Ben-Hur, Christiane Richter-Landsberg, Ronit Sharon
PLoS One. 2012; 7(10): e46817. Published online 2012 Oct 15. doi: 10.1371/journal.pone.0046817
PMCID:
PMC3471961
AbstractArticlePDF–802K
13.
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
AbstractArticlePDF–428K
14.
Neurodegeneration in a Transgenic Mouse Model of Multiple System Atrophy Is Associated with Altered Expression of Oligodendroglial-Derived Neurotrophic Factors
Kiren Ubhi, Edward Rockenstein, Michael Mante, Chandra Inglis, Anthony Adame, Christina Patrick, Kristen Whitney, Eliezer Masliah
J Neurosci. 2010 May 5; 30(18): 6236–6246. doi: 10.1523/JNEUROSCI.0567-10.2010
Correction in:
J Neurosci. 2010 Oct 20; 30(42): np.
PMCID:
PMC2896284
AbstractArticlePDF–1.6M

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