PMC Links for Books (Select 2357464) - PMC

Select item 69064631.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Maartje Pennings, Meyke I. Schouten, Judith van Gaalen, Rowdy P. P. Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck-Zwarts, Christine de Die-Smulders, Eva H. Brilstra, Corien C. Verschuuren, Bert B. A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A. Duijkers, B. Jaeger, Jolanda H. Schieving, Bart P. van de Warrenburg, Erik-Jan Kamsteeg

Eur J Hum Genet. 2020 Jan; 28(1): 40–49. Published online 2019 Sep 5. doi: 10.1038/s41431-019-0497-z

PMCID:: PMC6906463

Abstract Article PDF–947K

Select item 68371622.

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5

Geun-Young Park, Dae-Hyun Jang, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo

Front Genet. 2019; 10: 1085. Published online 2019 Oct 31. doi: 10.3389/fgene.2019.01085

PMCID:: PMC6837162

Abstract Article PDF–1.9M

Select item 65373753.

The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA

James Jiqi Wang, Bo Yu, Zongzhe Li

BMC Med Genet. 2019; 20: 91. Published online 2019 May 27. doi: 10.1186/s12881-019-0828-5

PMCID:: PMC6537375

Abstract Article PDF–1001K

Select item 54293604.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Abstract Article PDF–1.1M

Select item 51400525.

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A. Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth

PLoS Genet. 2016 Dec; 12(12): e1006461. Published online 2016 Dec 6. doi: 10.1371/journal.pgen.1006461

PMCID:: PMC5140052

Abstract Article PDF–1.7M

Select item 27496626.

Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to Thermal Stimuli

Marco L. Loggia, M. Catherine Bushnell, Martine Tétreault, Isabelle Thiffault, Claude Bhérer, Nazma K. Mohammed, Anil A. Kuchinad, Audrey Laferrière, Marie-Josée Dicaire, Lina Loisel, Jeffrey S. Mogil, Bernard Brais

J Neurosci. 2009 Feb 18; 29(7): 2162–2166. doi: 10.1523/JNEUROSCI.4633-08.2009

PMCID:: PMC2749662

Abstract Article PDF–271K

Select item 23987357.

Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

Masoud Shekarabi, Nathalie Girard, Jean-Baptiste Rivière, Patrick Dion, Martin Houle, André Toulouse, Ronald G. Lafrenière, Freya Vercauteren, Pascale Hince, Janet Laganiere, Daniel Rochefort, Laurence Faivre, Mark Samuels, Guy A. Rouleau

J Clin Invest. 2008 Jul 1; 118(7): 2496–2505. Published online 2008 Jun 2. doi: 10.1172/JCI34088

PMCID:: PMC2398735

Abstract Article PDF–1.2M

Select item 11819708.

Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

Ronald G. Lafrenière, Marcia L. E. MacDonald, Marie-Pierre Dubé, Julie MacFarlane, Mary O’Driscoll, Bernard Brais, Sébastien Meilleur, Ryan R. Brinkman, Owen Dadivas, Terry Pape, Christèle Platon, Chris Radomski, Jenni Risler, Jay Thompson, Ana-Maria Guerra-Escobio, Gudarz Davar, Xandra O. Breakefield, Simon N. Pimstone, Roger Green, William Pryse-Phillips, Y. Paul Goldberg, H. Banfield Younghusband, Michael R. Hayden, Robin Sherrington, Guy A. Rouleau, Mark E. Samuels

Am J Hum Genet. 2004 May; 74(5): 1064–1073. Published online 2004 Apr 1. doi: 10.1086/420795

PMCID:: PMC1181970

Abstract Article PDF–674K

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