PMC Articles for MedGen (Select 1680026) - PMC

Select item 95269801.

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais, Cynthia Gagnon

Orphanet J Rare Dis. 2022; 17: 369. Published online 2022 Oct 1. doi: 10.1186/s13023-022-02497-1

PMCID:: PMC9526980

Abstract Article PDF–1.4M

Select item 94378602.

The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics

Vincent Francis, Walaa Alshafie, Rahul Kumar, Martine Girard, Bernard Brais, Peter S. McPherson

J Biol Chem. 2022 Sep; 298(9): 102320. Published online 2022 Aug 4. doi: 10.1016/j.jbc.2022.102320

Correction in:: J Biol Chem. 2022 Dec; 298(12): 102718.

PMCID:: PMC9437860

Abstract Article PDF–3.2M

Select item 79654243.

Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

K.K. Oguz, G. Haliloglu, C. Temucin, R. Gocmen, A.C. Has, K. Doerschner, A. Dolgun, M. Alikasifoglu

AJNR Am J Neuroradiol. 2013 Oct; 34(10): 1952–1957. doi: 10.3174/ajnr.A3488

PMCID:: PMC7965424

Abstract Article PDF–1.8M

Select item 75070014.

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

Joel A. Morales‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee

Mol Genet Genomic Med. 2020 Sep; 8(9): e1341. Published online 2020 Jun 29. doi: 10.1002/mgg3.1341

PMCID:: PMC7507001

Abstract Article PDF–586K

Select item 66954355.

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy

Federica Morani, Stefano Doccini, Roberto Sirica, Marta Paterno, Francesco Pezzini, Ivana Ricca, Alessandro Simonati, Massimo Delledonne, Filippo Maria Santorelli

Sci Rep. 2019; 9: 11878. Published online 2019 Aug 15. doi: 10.1038/s41598-019-48047-x

PMCID:: PMC6695435

Abstract Article PDF–2.8M

Select item 64023166.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle

Brain. 2017 Jun; 140(6): 1561–1578. Published online 2017 Apr 27. doi: 10.1093/brain/awx095

Correction in:: Brain. 2018 Mar; 141(3): e21.

PMCID:: PMC6402316

Abstract Article PDF–1.1M

Select item 58852597.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Marie Coutelier, Monia B. Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, Thomas de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon-Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Durr

JAMA Neurol. 2018 May; 75(5): 591–599. Published online 2018 Feb 26. doi: 10.1001/jamaneurol.2017.5121

PMCID:: PMC5885259

Abstract Article

Select item 53840888.

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

Hiroshi Doi, Masao Ushiyama, Takashi Baba, Katsuko Tani, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Yoko Fukuda-Yuzawa, Shoji Tsuji, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Shu-ichi Ikeda, Fumiaki Tanaka, Naomichi Matsumoto, Kunihiro Yoshida

Sci Rep. 2014; 4: 7132. Published online 2014 Nov 24. doi: 10.1038/srep07132

PMCID:: PMC5384088

Abstract Article PDF–733K

Select item 46308399.

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia

Wahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, Jean Muller, Nathalie Drouot, Farida Ferrat, Samira Makri, Malika Chaouch, Meriem Tazir, Michel Koenig, Traki Benhassine

BMC Med Genet. 2015; 16: 36. Published online 2015 Jun 12. doi: 10.1186/s12881-015-0180-3

PMCID:: PMC4630839

Abstract Article PDF–303K

Select item 379513610.

Orthopedic management in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Marc Bouchard, Gaëtan Langlois

Can J Surg. 1999 Dec; 42(6): 440–444.

PMCID:: PMC3795136

Summary PDF–1.8M

Select item 361026411.

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N Karle, Rebecca Schüle, Tobias B Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik-Schöneborn, Jan Senderek, Karl-Titus Hoffmann, Patrick MacLeod, Johannes Schwarz, Benjamin Bender, Stefan Krüger, Friedmar Kreuz, Peter Bauer, Ludger Schöls

Orphanet J Rare Dis. 2013; 8: 41. Published online 2013 Mar 15. doi: 10.1186/1750-1172-8-41

PMCID:: PMC3610264

Abstract Article PDF–1.1M

Select item 312148112.

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

Guennadi Kozlov, Alexey Y. Denisov, Martine Girard, Marie-Josée Dicaire, Jason Hamlin, Peter S. McPherson, Bernard Brais, Kalle Gehring

J Biol Chem. 2011 Jun 10; 286(23): 20407–20412. Published online 2011 Apr 20. doi: 10.1074/jbc.M111.232884

PMCID:: PMC3121481

Abstract Article PDF–1.2M

Select item 266728513.

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

David A. Parfitt, Gregory J. Michael, Esmeralda G.M. Vermeulen, Natalia V. Prodromou, Tom R. Webb, Jean-Marc Gallo, Michael E. Cheetham, William S. Nicoll, Gregory L. Blatch, J. Paul Chapple

Hum Mol Genet. 2009 May 1; 18(9): 1556–1565. Published online 2009 Feb 10. doi: 10.1093/hmg/ddp067

PMCID:: PMC2667285

Abstract Article PDF–441K

Select item 244158614.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Sascha Vermeer, Rowdy P. P. Meijer, Benjamin J. Pijl, Janneke Timmermans, Johannes R. M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart. P. C. van de Warrenburg, Nine V. A. M. Knoers, Hans Scheffer, Berry Kremer

Neurogenetics. 2008; 9(3): 207–214. Published online 2008 Jul 1. doi: 10.1007/s10048-008-0131-7

Correction in:: Neurogenetics. 2009; 10: 87.

PMCID:: PMC2441586

Abstract Article PDF–181K

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