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Select item 31103051.

Confusion and Slurred Speech in a 34-Year-Old Woman from India

Chandril Chugh, N. Wadhwani, José Biller

Front Neurol. 2011; 2: 34. Published online 2011 Jun 6. doi: 10.3389/fneur.2011.00034

PMCID:: PMC3110305

Abstract Article PDF–628K

Select item 30871632.

Memory Loss, Behavioral Changes, and Slurred Speech in a 49-Year-Old Man

Chandril Chugh, John M. Lee, José Biller

Front Neurol. 2011; 2: 27. Prepublished online 2011 Mar 26. Published online 2011 Apr 28. doi: 10.3389/fneur.2011.00027

PMCID:: PMC3087163

Abstract Article PDF–2.4M

Select item 17620523.

Ophthalmoplegia and Slurred Speech in an Intravenous Drug User

Jaime Vera, Anke Hensiek, Charles Woodrow, Francesca Crawley, Sanjeev Krishna

PLoS Med. 2006 Dec; 3(12): e453. Published online 2006 Dec 26. doi: 10.1371/journal.pmed.0030453

PMCID:: PMC1762052

Article PDF–90K

Select item 104220604.

A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay

Dong Wang, Jin Wu

Mol Genet Genomic Med. 2023 Aug; 11(8): e2227. Published online 2023 Jun 18. doi: 10.1002/mgg3.2227

PMCID:: PMC10422060

Abstract Article PDF–2.6M

Select item 103546925.

Evaluation of Cerebellar Ataxic Patients

Sara Radmard, Theresa A. Zesiewicz, Sheng-Han Kuo

Neurol Clin. Author manuscript; available in PMC 2023 Jul 19.

Published in final edited form as: Neurol Clin. 2023 Feb; 41(1): 21–44. Published online 2022 Aug 31. doi: 10.1016/j.ncl.2022.05.002

PMCID:: PMC10354692

Abstract Article PDF–1.2M

Select item 103192436.

When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman

Firas Al Nidawi, Mohamed Wael, Noora Alkhater, Talip Asil, Mariam Fida

Neurologist. 2023 Jul; 28(4): 262–265. Published online 2022 Dec 1. doi: 10.1097/NRL.0000000000000476

PMCID:: PMC10319243

Abstract Article PDF–330K

Select item 96323607.

Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia

Emilie Neerup Nielsen, Birna Ásbjörnsdóttir, Lisbeth Birk Møller, Jørgen Erik Nielsen, Suzanne Granhøj Lindquist

Cold Spring Harb Mol Case Stud. 2022 Oct; 8(6): a006236. doi: 10.1101/mcs.a006236

PMCID:: PMC9632360

Abstract Article PDF–432K

Select item 86423738.

Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5

Xianli Bian, Shang Wang, Suqin Jin, Shunliang Xu, Hong Zhang, Dewei Wang, Wei Shang, Ping Wang

Neurol Sci. 2021; 42(12): 5195–5203. Published online 2021 Apr 2. doi: 10.1007/s10072-021-05204-3

PMCID:: PMC8642373

Abstract Article PDF–1.8M

Select item 75496099.

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders

Haiming Yuan, Huihua Yuan, Qingming Wang, Wanhua Ye, Ruixia Yao, Wanfang Xu, Yanhui Liu

Mol Genet Genomic Med. 2020 Oct; 8(10): e1434. Published online 2020 Jul 23. doi: 10.1002/mgg3.1434

PMCID:: PMC7549609

Abstract Article PDF–863K

Select item 747084110.

Mitochondrial fatty acid synthesis coordinates oxidative metabolism in mammalian mitochondria

Sara M Nowinski, Ashley Solmonson, Scott F Rusin, J Alan Maschek, Claire L Bensard, Sarah Fogarty, Mi-Young Jeong, Sandra Lettlova, Jordan A Berg, Jeffrey T Morgan, Yeyun Ouyang, Bradley C Naylor, Joao A Paulo, Katsuhiko Funai, James E Cox, Steven P Gygi, Dennis R Winge, Ralph J DeBerardinis, Jared Rutter

eLife. 2020; 9: e58041. Published online 2020 Aug 17. doi: 10.7554/eLife.58041

PMCID:: PMC7470841

Abstract Article PDF–5.6M

Select item 745057711.

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG

Davide Villa, Claudia Cinnante, Gloria Valcamonica, Giulia Manenti, Silvia Lanfranconi, Annalisa Colombi, Isabella Ghione, Maria Cristina Saetti, Mario D’Amico, Sara Bonato, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi

BMC Neurol. 2020; 20: 316. Published online 2020 Aug 26. doi: 10.1186/s12883-020-01890-2

PMCID:: PMC7450577

Abstract Article PDF–1.2M

Select item 744835712.

Co-occurrence of Moyamoya syndrome and Kartagener syndrome caused by the mutation of DNAH5 and DNAH11: a case report

Lili Zhang, Xungang Feng, Junhu Zhang, Yanlei Hao, Yuzhong Wang

BMC Neurol. 2020; 20: 314. Published online 2020 Aug 26. doi: 10.1186/s12883-020-01895-x

PMCID:: PMC7448357

Abstract Article PDF–1.0M

Select item 730436113.

Early-onset cerebellar ataxia in a patient with CMT2A2

Ricardo Madrid, Sara R. Guariglia, Andrea Haworth, William Korosh, Maureen Gavin, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005108. doi: 10.1101/mcs.a005108

PMCID:: PMC7304361

Abstract Article PDF–1.0M

Select item 698541814.

Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia

Joel M. Gottesfeld

Neurotherapeutics. 2019 Oct; 16(4): 1032–1049. Published online 2019 Jul 17. doi: 10.1007/s13311-019-00764-x

PMCID:: PMC6985418

Abstract Article PDF–2.5M

Select item 666323315.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) presenting with stroke in a young man

Louise Dunphy, Amir Rani, Yaw Duodu, Yousef Behnam

BMJ Case Rep. 2019; 12(7): e229609. Published online 2019 Jul 18. doi: 10.1136/bcr-2019-229609

PMCID:: PMC6663233

Abstract Article PDF–529K

Select item 628087616.

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

Alejandro Leal, Sixto Bogantes-Ledezma, Arif B. Ekici, Steffen Uebe, Christian T. Thiel, Heinrich Sticht, Martin Berghoff, Corinna Berghoff, Bernal Morera, Michael Meisterernst, André Reis

Neurogenetics. 2018; 19(4): 215–225. Published online 2018 Jul 24. doi: 10.1007/s10048-018-0555-7

PMCID:: PMC6280876

Abstract Article PDF–3.9M

Select item 540495217.

New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation

Jasmin Roohi, Jennifer Crowe, Denis Loredan, Kwame Anyane-Yeboa, Mahesh M. Mansukhani, Lenore Omesi, Jennifer Levine, Anya Revah Politi, Shan Zha

J Hum Genet. Author manuscript; available in PMC 2017 Jul 26.

Published in final edited form as: J Hum Genet. 2017 Apr; 62(5): 581–584. Published online 2017 Jan 26. doi: 10.1038/jhg.2017.6

PMCID:: PMC5404952

Abstract Article PDF–263K

Select item 511101218.

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11

Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, Yun Shen, Ting Fung Chan, Ho-Yin Edwin Chan

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001248. doi: 10.1101/mcs.a001248

PMCID:: PMC5111012

Abstract Article PDF–967K

Select item 511100319.

Genome sequencing in a case of Niemann–Pick type C

Max Dougherty, John Lazar, Jason C. Klein, Karina Diaz, Theodore Gobillot, Eli Grunblatt, Nicholas Hasle, Daniel Lawrence, Megan Maurano, Maria Nelson, Gregory Olson, Sanjay Srivatsan, Jay Shendure, C. Dirk Keene, Thomas Bird, Marshall S. Horwitz, Desiree A. Marshall

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001222. doi: 10.1101/mcs.a001222

PMCID:: PMC5111003

Abstract Article PDF–1.6M

Select item 428997120.

Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient

P. McColgan, S. Viegas, S. Gandhi, K. Bull, R. Tudor, F. Sheikh, J. Pinney, M. Fontana, D. Rowczenio, J. D. Gillmore, J. A. Gilbertson, C. J. Whelan, S. Shah, Z. Jaunmuktane, J. L. Holton, J. M. Schott, D. J. Werring, P. N. Hawkins, M. M. Reilly

J Neurol. 2015; 262(1): 228–234. Published online 2014 Dec 9. doi: 10.1007/s00415-014-7594-2