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Select item 32127191.

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction

Petter Strømme, Kostantin Dobrenis, Roy V. Sillitoe, Maria Gulinello, Nafeeza F. Ali, Cristin Davidson, Matthew C. Micsenyi, Gloria Stephney, Linda Ellevog, Arne Klungland, Steven U. Walkley

Brain. 2011 Nov; 134(11): 3369–3383. Published online 2011 Sep 29. doi: 10.1093/brain/awr250

PMCID:: PMC3212719

Abstract Article PDF–2.0M

Select item 47242312.

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: Case report and literature review

Kotaro Ogaki, Shunsuke Koga, Naoya Aoki, Wenlang Lin, Kinuko Suzuki, Owen A. Ross, Dennis W. Dickson

Neuropathology. Author manuscript; available in PMC 2017 Feb 1.

Published in final edited form as: Neuropathology. 2016 Feb; 36(1): 64–76. Published online 2015 Jul 31. doi: 10.1111/neup.12230

PMCID:: PMC4724231

Abstract Article PDF–3.2M

Select item 44812143.

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca²⁺ Pump Impairs Cellular Ca²⁺ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

Tito Calì, Raffaele Lopreiato, Joshua Shimony, Marisa Vineyard, Martina Frizzarin, Ginevra Zanni, Giuseppe Zanotti, Marisa Brini, Marwan Shinawi, Ernesto Carafoli

J Biol Chem. 2015 Jun 26; 290(26): 16132–16141. Published online 2015 May 7. doi: 10.1074/jbc.M115.656496

PMCID:: PMC4481214

Abstract Article PDF–2.9M

Select item 44062934.

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development

David Cunningham, Andrea E. DeBarber, Natalie Bir, Laura Binkley, Louise S. Merkens, Robert D. Steiner, Gail E. Herman

Hum Mol Genet. 2015 May 15; 24(10): 2808–2825. Published online 2015 Feb 4. doi: 10.1093/hmg/ddv042

PMCID:: PMC4406293

Abstract Article PDF–1.2M

Select item 43047965.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

Matthew F. Pescosolido, David M. Stein, Michael Schmidt, Christelle Moufawad El Achkar, Mark Sabbagh, Jeffrey M. Rogg, Umadevi Tantravahi, Rebecca L. McLean, Judy S. Liu, Annapurna Poduri, Eric M. Morrow

Ann Neurol. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 581–593. Published online 2014 Sep 19. doi: 10.1002/ana.24225

PMCID:: PMC4304796

Abstract Article PDF–1.2M

Select item 41550086.

MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features

Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna L. Schmidt, Christin D. Collins, Francesca Novara, Antonia Di Genni, Alda Mita, Fabio Triulzi, Janice E. Brunstrom-Hernandez, Orsetta Zuffardi, Umberto Balottin, Simona Orcesi

J Child Neurol. Author manuscript; available in PMC 2014 Sep 4.

Published in final edited form as: J Child Neurol. 2013 Jun; 28(6): 795–800. Published online 2012 Jul 17. doi: 10.1177/0883073812450944

PMCID:: PMC4155008

Abstract Article PDF–544K

Select item 41411487.

The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne’s thread

M. Mancuso, D. Orsucci, G. Siciliano, U. Bonuccelli

J Neurol. 2014; 261(Suppl 2): 528–541. Published online 2014 Aug 22. doi: 10.1007/s00415-014-7387-7

PMCID:: PMC4141148

Abstract Article PDF–1.0M

Select item 40753818.

Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation

Joon Won Kang, Sang Mi Lee, Kyo Yeon Koo, Young-Mock Lee, Hyo Suk Nam, Zhejiu Quan, Hoon-Chul Kang

Yonsei Med J. 2014 Jul 1; 55(4): 1157–1160. Published online 2014 Jun 13. doi: 10.3349/ymj.2014.55.4.1157

PMCID:: PMC4075381

Abstract Article PDF–1.5M

Select item 39314889.

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B Haack, Christian Wilhelm, Tobias Lindig, Stefanie Beck-Wödl, Sander B Nabuurs, André BP van Kuilenburg, Arjan PM de Brouwer, Ludger Schöls

Orphanet J Rare Dis. 2014; 9: 24. Published online 2014 Feb 14. doi: 10.1186/1750-1172-9-24

PMCID:: PMC3931488

Abstract Article PDF–1.9M

Select item 387693510.

Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1

Anders A. F. Sima, Christopher R. Pierson, Randall L. Woltjer, Grace M. Hobson, Jeffrey A. Golden, William J. Kupsky, Galen M. Schauer, Thomas D. Bird, Robert P. Skoff, James Y. Garbern

Acta Neuropathol. Author manuscript; available in PMC 2013 Dec 31.

Published in final edited form as: Acta Neuropathol. 2009 Oct; 118(4): 10.1007/s00401-009-0562-8. Published online 2009 Jun 27. doi: 10.1007/s00401-009-0562-8

PMCID:: PMC3876935

Abstract Article PDF–3.0M

Select item 380905811.

Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”

Marta Romani, Alessia Micalizzi, Enza Maria Valente

Lancet Neurol. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Lancet Neurol. 2013 Sep; 12(9): 10.1016/S1474-4422(13)70136-4. Published online 2013 Jul 17. doi: 10.1016/S1474-4422(13)70136-4

PMCID:: PMC3809058

Abstract Article PDF–1.3M

Select item 379269112.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

Melody Caramins, James G. Colebatch, Matthew N. Bainbridge, Steven S. Scherer, Charles K. Abrams, Emma L. Hackett, Mona M. Freidin, Shalini N. Jhangiani, Min Wang, Yuanqing Wu, Donna M. Muzny, Robert Lindeman, Richard A. Gibbs

Hum Mol Genet. 2013 Nov 1; 22(21): 4329–4338. Published online 2013 Jun 16. doi: 10.1093/hmg/ddt282

PMCID:: PMC3792691

Abstract Article PDF–913K

Select item 375184913.

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Alan Lewis, Penelope E Bonnen

BMC Med Genet. 2013; 14: 83. Published online 2013 Aug 16. doi: 10.1186/1471-2350-14-83

PMCID:: PMC3751849

Abstract Article PDF–330K

Select item 360840314.

The Unstable Repeats - Three Evolving Faces of Neurological Disease

David L. Nelson, Harry T. Orr, Stephen T. Warren

Neuron. Author manuscript; available in PMC 2014 Mar 6.

Published in final edited form as: Neuron. 2013 Mar 6; 77(5): 825–843. doi: 10.1016/j.neuron.2013.02.022

PMCID:: PMC3608403

Abstract Article PDF–1.5M

Select item 343788715.

Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis

Ginevra Zanni, Tito Calì, Vera M. Kalscheuer, Denis Ottolini, Sabina Barresi, Nicolas Lebrun, Luisa Montecchi-Palazzi, Hao Hu, Jamel Chelly, Enrico Bertini, Marisa Brini, Ernesto Carafoli

Proc Natl Acad Sci U S A. 2012 Sep 4; 109(36): 14514–14519. Published online 2012 Aug 21. doi: 10.1073/pnas.1207488109

PMCID:: PMC3437887

Abstract Article PDF–931K

Select item 335173916.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

Orphanet J Rare Dis. 2012; 7: 18. Published online 2012 Mar 27. doi: 10.1186/1750-1172-7-18