PMC Articles for MedGen (Select 400359) - PMC

Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, Rebecca Schüle, Sven Klimpe, Stephan Klebe, Christiane Frahm, Jan Kassubek, Giovanni Stevanin, Ludger Schöls, Alexis Brice, Christian A. Hübner, Christian Beetz

Orphanet J Rare Dis. 2015; 10: 147. Published online 2015 Nov 16. doi: 10.1186/s13023-015-0359-x

PMCID:: PMC4647479

Article PDF–1.5M

Select item 17853074.

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Paul N. Valdmanis, Inge A. Meijer, Annie Reynolds, Adrienne Lei, Patrick MacLeod, David Schlesinger, Mayana Zatz, Evan Reid, Patrick A. Dion, Pierre Drapeau, Guy A. Rouleau

Am J Hum Genet. 2007 Jan; 80(1): 152–161. Published online 2006 Dec 1. doi: 10.1086/510782

PMCID:: PMC1785307

Article PDF–1.5M

Select item 77970585.

Characterization of the first tetrameric transcription factor of the GntR superfamily with allosteric regulation from the bacterial pathogen Agrobacterium fabrum

Armelle Vigouroux, Thibault Meyer, Anaïs Naretto, Pierre Legrand, Magali Aumont-Nicaise, Aurélie Di Cicco, Sébastien Renoud, Jeanne Doré, Daniel Lévy, Ludovic Vial, Céline Lavire, Solange Moréra

Nucleic Acids Res. 2021 Jan 11; 49(1): 529–546. Published online 2020 Dec 11. doi: 10.1093/nar/gkaa1181

PMCID:: PMC7797058

Article PDF–6.8M

Select item 64118336.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, Karolina Ziora-Jakutowicz, Maria Rakowicz, Anna Sobanska, Jacek Pilch, Dorota Antczak-Marach, Jacek Zaremba, Anna Sulek

Neurogenetics. 2019; 20(1): 27–38. Published online 2019 Feb 19. doi: 10.1007/s10048-019-00565-6

PMCID:: PMC6411833

Article PDF–772K

Select item 61770047.

Expression of N471D strumpellin leads to defects in the endolysosomal system

Lin Song, Ramesh Rijal, Malte Karow, Maria Stumpf, Oliver Hahn, Laura Park, Robert Insall, Rolf Schröder, Andreas Hofmann, Christoph S. Clemen, Ludwig Eichinger

Dis Model Mech. 2018 Sep 1; 11(9): dmm033449. Published online 2018 Sep 13. doi: 10.1242/dmm.033449

PMCID:: PMC6177004

Article

Select item 41372318.

C9orf72 and UNC13A are shared risk loci for ALS and FTD: a genome-wide meta-analysis

Frank P. Diekstra, Vivianna M. Van Deerlin, John C. van Swieten, Ammar Al-Chalabi, Albert C. Ludolph, Jochen H. Weishaupt, Orla Hardiman, John E. Landers, Robert H. Brown, Jr., Michael A. van Es, R. Jeroen Pasterkamp, Max Koppers, Peter M. Andersen, Karol Estrada, Fernando Rivadeneira, Albert Hofman, André G. Uitterlinden, Philip van Damme, Judith Melki, Vincent Meininger, Aleksey Shatunov, Christopher E. Shaw, P. Nigel Leigh, Pamela J. Shaw, Karen E. Morrison, Isabella Fogh, Adriano Chiò, Bryan J. Traynor, David Czell, Markus Weber, Peter Heutink, Paul I. W. de Bakker, Vincenzo Silani, Wim Robberecht, Leonard H. van den Berg, Jan H. Veldink

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

Published in final edited form as: Ann Neurol. 2014 Jul; 76(1): 120–133. Published online 2014 Jun 27. doi: 10.1002/ana.24198

PMCID:: PMC4137231

Article PDF–1.1M

Select item 22462899.

High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer

Suet F Chin, Andrew E Teschendorff, John C Marioni, Yanzhong Wang, Nuno L Barbosa-Morais, Natalie P Thorne, Jose L Costa, Sarah E Pinder, Mark A van de Wiel, Andrew R Green, Ian O Ellis, Peggy L Porter, Simon Tavaré, James D Brenton, Bauke Ylstra, Carlos Caldas

Genome Biol. 2007; 8(10): R215. Published online 2007 Oct 7. doi: 10.1186/gb-2007-8-10-r215

PMCID:: PMC2246289

Article PDF–1.2M

Select item 404549910.

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

John K. Fink

Acta Neuropathol. Author manuscript; available in PMC 2014 Jun 4.

Published in final edited form as: Acta Neuropathol. 2013 Sep; 126(3): 307–328. Published online 2013 Jul 30. doi: 10.1007/s00401-013-1115-8

PMCID:: PMC4045499

Article PDF–458K

Select item 1064477211.

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

Shan-Yu Gao, Yu-Xing Liu, Yi Dong, Liang-Liang Fan, Qi Ding, Lv Liu

Front Genet. 2023; 14: 1205052. Published online 2023 Oct 31. doi: 10.3389/fgene.2023.1205052

PMCID:: PMC10644772

Article PDF–2.0M

Select item 909753912.

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia

Yuzhi Shi, An Wang, Bin Chen, Xingao Wang, Songtao Niu, Wei Li, Shaowu Li, Zaiqiang Zhang

Front Neurol. 2022; 13: 872927. Published online 2022 Apr 28. doi: 10.3389/fneur.2022.872927

PMCID:: PMC9097539

Article PDF–2.9M

Select item 514152313.

Clinical and genetic study of hereditary spastic paraplegia in Canada

Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani, Heather MacDonald, Noreen Mohsin, Karim Mourabit-Amari, Pierre Provencher, Kym M. Boycott, Dimitri J. Stavropoulos, Patrick A. Dion, Peter N. Ray, Oksana Suchowersky, Guy A. Rouleau, Grace Yoon

Neurol Genet. 2017 Feb; 3(1): e122. Published online 2016 Dec 5. doi: 10.1212/NXG.0000000000000122

PMCID:: PMC5141523

Article PDF–394K

Select item 319282814.

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin for the NISC Comparative Sequencing Program, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro

PLoS Genet. 2011 Oct; 7(10): e1002325. Published online 2011 Oct 13. doi: 10.1371/journal.pgen.1002325

Correction in:: PLoS Genet. 2013 Feb; 9(2): 10.1371/annotation/273d7d98-3a1b-494b-839e-de31a0f33d28.

PMCID:: PMC3192828

Article PDF–2.2M

Select item 1075964015.

Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review

Xu Zhang, Feng Xiang, Desheng Li, Fei Yang, Shengyuan Yu, Xiangqing Wang

BMC Neurol. 2024; 24: 15. Published online 2024 Jan 2. doi: 10.1186/s12883-023-03480-4

PMCID:: PMC10759640

Article PDF–1.8M

Select item 1032890316.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat

Acta Neuropathol. 2023; 146(2): 353–368. Published online 2023 Apr 29. doi: 10.1007/s00401-023-02579-9