PMC Links for Books (Select 1493992) - PMC

Select item 82997751.

C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity

Swati Khare, Kira Galeano, Yalan Zhang, Jerelyn A. Nick, Harry S. Nick, S. H. Subramony, Jacinda Sampson, Leonard K. Kaczmarek, Michael F. Waters

Cerebellum. Author manuscript; available in PMC 2021 Jul 23.

Published in final edited form as: Cerebellum. 2018 Oct; 17(5): 692–697. doi: 10.1007/s12311-018-0950-5

PMCID:: PMC8299775

Article PDF–664K

Select item 58852592.

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

Article

Select item 58372483.

The cerebellar cognitive affective/Schmahmann syndrome scale

Franziska Hoche, Xavier Guell, Mark G Vangel, Janet C Sherman, Jeremy D Schmahmann

Brain. 2018 Jan; 141(1): 248–270. Published online 2017 Dec 1. doi: 10.1093/brain/awx317

PMCID:: PMC5837248

Article PDF–2.0M

Select item 54149544.

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking

Swati Khare, Jerelyn A. Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P. W. Ranum, Lisa Smithson, Todd E. Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E. Rincon-Limas, Jada Lewis, Leonard K. Kaczmarek, Pedro Fernandez-Funez, Harry S. Nick, Michael F. Waters

PLoS One. 2017; 12(5): e0173565. Published online 2017 May 3. doi: 10.1371/journal.pone.0173565

PMCID:: PMC5414954

Article PDF–7.0M

Select item 47319255.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 43550746.

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

Anna Duarri, Esther A. R. Nibbeling, Michiel R. Fokkens, Michel Meijer, Melissa Boerrigter, Corien C. Verschuuren-Bemelmans, Berry P. H. Kremer, Bart P. van de Warrenburg, Dennis Dooijes, Erik Boddeke, Richard J. Sinke, Dineke S. Verbeek

PLoS One. 2015; 10(3): e0116599. Published online 2015 Mar 10. doi: 10.1371/journal.pone.0116599

PMCID:: PMC4355074

Article PDF–623K

Select item 38242617.

Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13

SH Subramony, Joel Advincula, Susan Perlman, Raymond L. Rosales, Lillian V. Lee, Tetsuo Ashizawa, Michael F. Waters

Cerebellum. 2013; 12(6): 932–936. Published online 2013 Aug 3. doi: 10.1007/s12311-013-0507-6

PMCID:: PMC3824261

Article PDF–315K

Select item 37842848.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Andrea H. Németh, Alexandra C. Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B. E. Becker, Katarzyna D. Bera, Morag E. Shanks, Lorna Gregory, David Buck, M. Zameel Cader, Kevin Talbot, Rajith de Silva, Nicholas Fletcher, Rob Hastings, Sandeep Jayawant, Patrick J. Morrison, Paul Worth, Malcolm Taylor, John Tolmie, Mary O’Regan, UK Ataxia Consortium, Ruth Valentine, Emily Packham, Julie Evans, Anneke Seller, Jiannis Ragoussis

Brain. 2013 Oct; 136(10): 3106–3118. doi: 10.1093/brain/awt236

PMCID:: PMC3784284

Article PDF–716K

Select item 34134869.

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13

Natali A Minassian, Meng-Chin A Lin, Diane M Papazian

J Physiol. 2012 Apr; 590(Pt 7): 1599–1614. Published online 2012 Jan 30. doi: 10.1113/jphysiol.2012.228205

PMCID:: PMC3413486

Article PDF–2.4M

Select item 306619410.

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

Karla P. Figueroa, Michael F. Waters, Vartan Garibyan, Thomas D. Bird, Christopher M. Gomez, Laura P. W. Ranum, Natali A. Minassian, Diane M. Papazian, Stefan M. Pulst

PLoS One. 2011; 6(3): e17811. Published online 2011 Mar 29. doi: 10.1371/journal.pone.0017811

PMCID:: PMC3066194

Article PDF–977K

Select item 281491311.

KCNC3: Phenotype, mutations, channel biophysics – a study of 260 familial ataxia patients

Karla P. Figueroa, Natali A. Minassian, Giovanni Stevanin, Michael Waters, Vartan Garibyan, Sylvie Forlani, Adam Strzelczyk, Katrin Bűrk, Alexis Brice, Alexandra Dűrr, Diane M. Papazian, Stefan-M Pulst

Hum Mutat. Author manuscript; available in PMC 2011 Feb 1.

Published in final edited form as: Hum Mutat. 2010 Feb; 31(2): 191–196. doi: 10.1002/humu.21165

PMCID:: PMC2814913

Article PDF–478K

Select item 128708112.

Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

Alexandra Herman-Bert, Giovanni Stevanin, Jean-Claude Netter, Olivier Rascol, David Brassat, Patrick Calvas, Agnès Camuzat, Qiu-ping Yuan, Martin Schalling, Alexandra Dürr, Alexis Brice

Am J Hum Genet. 2000 Jul; 67(1): 229–235. Published online 2000 May 11. doi: 10.1086/302958

PMCID:: PMC1287081

Article PDF–276K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 12

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity