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Items: 1 to 20 of 129

1.
PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive
Maha S. Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Issa, Hea-Jin Jung, Esra Dikoglu, Laila Selim, Imam Gamal, Mohamed S. Abdel-Hamid, Ghada Abdel-Salam, Isaac Marin-Valencia, Joseph G. Gleeson
Ann Neurol. Author manuscript; available in PMC 2017 Jul 1.
Published in final edited form as: Ann Neurol. 2016 Jul; 80(1): 59–70. Published online 2016 Jun 1. doi: 10.1002/ana.24678
PMCID:
PMC4938747
AbstractArticlePDF–1.0M
2.
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
Amir Boukhris, Rebecca Schule, José L. Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A. Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F. Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, Andreas Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne-Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vitor T. Cruz, Fanny Mochel, Paula Coutinho, Patrick Dion, Chokri Mhiri, Ludger Schols, Jean Pouget, Frédéric Darios, Guy A. Rouleau, Wilson Marques, Jr., Alexis Brice, Alexandra Durr, Stephan Zuchner, Giovanni Stevanin
Am J Hum Genet. 2013 Jul 11; 93(1): 118–123. doi: 10.1016/j.ajhg.2013.05.006
PMCID:
PMC3710753
AbstractArticlePDF–1.4M
3.
Spartin Regulates Synaptic Growth and Neuronal Survival by Inhibiting BMP-Mediated Microtubule Stabilization
Minyeop Nahm, Min-Jung Lee, William Parkinson, Mihye Lee, Haeran Kim, Yoon-Jung Kim, Sungdae Kim, Yi Sul Cho, Byung-Moo Min, Yong Chul Bae, Kendal Broadie, Seungbok Lee
Neuron. Author manuscript; available in PMC 2013 Nov 2.
Published in final edited form as: Neuron. 2013 Feb 20; 77(4): 10.1016/j.neuron.2012.12.015. doi: 10.1016/j.neuron.2012.12.015
PMCID:
PMC3815429
AbstractArticlePDF–4.3M
4.
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
Martial Mallaret, Matthis Synofzik, Jaeho Lee, Cari A. Sagum, Muhammad Mahajnah, Rajech Sharkia, Nathalie Drouot, Mathilde Renaud, Fabrice A. C. Klein, Mathieu Anheim, Christine Tranchant, Cyril Mignot, Jean-Louis Mandel, Mark Bedford, Peter Bauer, Mustafa A. Salih, Rebecca Schüle, Ludger Schöls, C. Marcelo Aldaz, Michel Koenig
Brain. 2014 Feb; 137(2): 411–419. Published online 2013 Dec 24. doi: 10.1093/brain/awt338
PMCID:
PMC3914474
AbstractArticlePDF–1.1M
5.
The role of spartin and its novel ubiquitin binding region in DALIS occurrence
Amelia B. Karlsson, Jacqueline Washington, Valentina Dimitrova, Christopher Hooper, Alexander Shekhtman, Joanna C. Bakowska
Mol Biol Cell. 2014 Apr 15; 25(8): 1355–1365. doi: 10.1091/mbc.E13-11-0705
PMCID:
PMC3982999
AbstractArticlePDF–3.3M
6.
Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridisation
Angela Pyle, Helen Griffin, Jennifer Duff, Simon Zwolinski, Tania Smertenko, Patrick Yu-Wai-Man, Mauro Santibanez-Koref, Rita Horvath, Patrick F. Chinnery
J Neurogenet. Author manuscript; available in PMC 2014 Jun 1.
Published in final edited form as: J Neurogenet. 2013 Dec; 27(4): 176–182. Published online 2013 Nov 4. doi: 10.3109/01677063.2013.831094
PMCID:
PMC4038496
AbstractArticlePDF–1.1M
7.
Newly Characterized Forms of Neurodegeneration with Brain Iron Accumulation
Joshua M. Doorn, Michael C. Kruer
Curr Neurol Neurosci Rep. Author manuscript; available in PMC 2014 Dec 1.
Published in final edited form as: Curr Neurol Neurosci Rep. 2013 Dec; 13(12): 413. doi: 10.1007/s11910-013-0413-9
PMCID:
PMC4067003
AbstractArticlePDF–796K
8.
Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31
Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, Maria Lisa Putorti, Isabelle Bouchard, Michel Sylvain, Serge Melançon, Rachel Laframboise, Pierre Langevin, Jean-Pierre Bouchard, Michel Vanasse, Adeline Vanderver, Guillaume Sébire, Bernard Brais
Neurogenetics. Author manuscript; available in PMC 2014 Aug 28.
Published in final edited form as: Neurogenetics. 2010 Oct; 11(4): 457–464. Published online 2010 Jul 17. doi: 10.1007/s10048-010-0251-8
PMCID:
PMC4147760
AbstractArticlePDF–276K
9.
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression
William C. Wilson, Hue-Tran Hornig-Do, Francesco Bruni, Jeong Ho Chang, Alexis A. Jourdain, Jean-Claude Martinou, Maria Falkenberg, Henrik Spåhr, Nils-Göran Larsson, Richard J. Lewis, Lorraine Hewitt, Arnaud Baslé, Harold E. Cross, Liang Tong, Robert R. Lebel, Andrew H. Crosby, Zofia M. A. Chrzanowska-Lightowlers, Robert N. Lightowlers
Hum Mol Genet. 2014 Dec 1; 23(23): 6345–6355. Published online 2014 Jul 9. doi: 10.1093/hmg/ddu352
PMCID:
PMC4222368
AbstractArticlePDF–693K
10.
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
Muhammad Jameel, Joakim Klar, Muhammad Tariq, Abubakar Moawia, Naveed Altaf Malik, Syeda Seema Waseem, Uzma Abdullah, Tahir Naeem Khan, Raili Raininko, Shahid Mahmood Baig, Niklas Dahl
BMC Med Genet. 2014; 15: 133. Published online 2014 Dec 14. doi: 10.1186/s12881-014-0133-2
PMCID:
PMC4292821
AbstractArticlePDF–713K
11.
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
Manjunath Netravathi, Renu Kumari, Saketh Kapoor, Pushkar Dakle, Manish Kumar Dwivedi, Sumitabho Deb Roy, Paritosh Pandey, Jitender Saini, Anil Ramakrishna, Devaraddi Navalli, Parthasarathy Satishchandra, Pramod Kumar Pal, Arun Kumar, Mohammed Faruq
BMC Med Genet. 2015; 16: 5. Published online 2015 Feb 10. doi: 10.1186/s12881-015-0151-8
PMCID:
PMC4422476
AbstractArticlePDF–1.0M
12.
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Marie Coutelier, Cyril Goizet, Alexandra Durr, Florence Habarou, Sara Morais, Alexandre Dionne-Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schule, Maxime Janin, Fanny Morice-Picard, Christelle M. Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy Rouleau, Alexis Brice, Garth Nicholson, Frédéric Darios, José L. Loureiro, Stephan Zuchner, Chris Ottolenghi, Fanny Mochel, Giovanni Stevanin
Brain. 2015 Aug; 138(8): 2191–2205. Published online 2015 May 30. doi: 10.1093/brain/awv143
PMCID:
PMC4553756
AbstractArticlePDF–901K
13.
Structure of mitochondrial poly(A) RNA polymerase reveals the structural basis for dimerization, ATP selectivity and the SPAX4 disease phenotype
Mikalai Lapkouski, B. Martin Hällberg
Nucleic Acids Res. 2015 Oct 15; 43(18): 9065–9075. Published online 2015 Oct 10. doi: 10.1093/nar/gkv861
PMCID:
PMC4605311
AbstractArticlePDF–5.8M
14.
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
Dietmar R. Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik
Int J Mol Sci. 2015 Oct; 16(10): 25050–25066. Published online 2015 Oct 21. doi: 10.3390/ijms161025050
PMCID:
PMC4632789
AbstractArticlePDF–7.6M
15.
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
David S Lynch, Georgios Koutsis, Arianna Tucci, Marios Panas, Markella Baklou, Marianthi Breza, Georgia Karadima, Henry Houlden
Eur J Hum Genet. 2016 Jun; 24(6): 857–863. Published online 2015 Sep 16. doi: 10.1038/ejhg.2015.200
PMCID:
PMC4688955
AbstractArticlePDF–859K
16.
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Ronja Hollstein, David A Parry, Lisa Nalbach, Clare V Logan, Tim M Strom, Verity L Hartill, Ian M Carr, Georg C Korenke, Sandeep Uppal, Mushtaq Ahmed, Thomas Wieland, Alexander F Markham, Christopher P Bennett, Gabriele Gillessen-Kaesbach, Eamonn G Sheridan, Frank J Kaiser, David T Bonthron
J Med Genet. 2015 Dec; 52(12): 797–803. Published online 2015 Sep 30. doi: 10.1136/jmedgenet-2015-103344
PMCID:
PMC4717446
AbstractArticlePDF–1.6M
17.
Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture
Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli, Tiziano Verri
Hum Mutat. 2013 Mar; 34(3): 525–537. Published online 2012 Dec 24. doi: 10.1002/humu.22269
PMCID:
PMC3629688
AbstractArticlePDF–469K
18.
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome
Alejandro Horga, Pedro J. Tomaselli, Michael A. Gonzalez, Matilde Laurà, Francesco Muntoni, Adnan Y. Manzur, Michael G. Hanna, Julian C. Blake, Henry Houlden, Stephan Züchner, Mary M. Reilly
Neurology. 2016 Oct 11; 87(15): 1607–1612. doi: 10.1212/WNL.0000000000003212
PMCID:
PMC5067545
AbstractArticlePDF–425K
19.
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene
Lance H Rodan, Julie Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, James Gusella, Jonathan D Picker
Eur J Hum Genet. 2016 Dec; 24(12): 1826–1827. Published online 2016 Jun 22. doi: 10.1038/ejhg.2016.74
Correction in:
Eur J Hum Genet. 2016 Dec; 24(12): 1833.
PMCID:
PMC5117927
AbstractArticlePDF–85K
20.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, Caroline Paris, Jessica Douglas, Gaetan Lesca, Stylianos Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, Catherine Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Laurence Faivre, Julien Thevenon
Am J Hum Genet. 2016 Dec 1; 99(6): 1368–1376. Published online 2016 Nov 23. doi: 10.1016/j.ajhg.2016.10.009
PMCID:
PMC5142104
AbstractArticlePDF–442K

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