PMC Links for Books (Select 1491938) - PMC

Select item 55885091.

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region

Pratibha Nair, Abdul Rezzak Hamzeh, Madiha Mohamed, Nafisa Tawfiq, Mahmoud Taleb Al-Ali, Fatma Bastaki

Med Princ Pract. 2016 Nov; 25(6): 580–582. Published online 2016 Aug 19. doi: 10.1159/000449225

PMCID:: PMC5588509

Select item 52157002.

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

Kristoffer Haugarvoll, Stefan Johansson, Carlos E. Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A. Bindoff

PLoS One. 2017; 12(1): e0169309. Published online 2017 Jan 4. doi: 10.1371/journal.pone.0169309

PMCID:: PMC5215700

Abstract Article PDF–1.8M

Select item 50182073.

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur

Nature. Author manuscript; available in PMC 2017 Feb 17.

Published in final edited form as: Nature. 2016 Aug 18; 536(7616): 285–291. doi: 10.1038/nature19057

PMCID:: PMC5018207

Abstract Article PDF–3.1M

Select item 40216084.

A nationwide survey on Marinesco-Sjögren syndrome in Japan

Masahide Goto, Mari Okada, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino, Yukiko K Hayashi

Orphanet J Rare Dis. 2014; 9: 58. Published online 2014 Apr 23. doi: 10.1186/1750-1172-9-58

PMCID:: PMC4021608

Abstract Article PDF–397K

Select item 39583145.

SIL1, a causative cochaperone gene of Marinesco-Sjögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex

Yutaka Inaguma, Nanako Hamada, Hidenori Tabata, Ikuko Iwamoto, Makoto Mizuno, Yoshiaki V Nishimura, Hidenori Ito, Rika Morishita, Motomasa Suzuki, Kinji Ohno, Toshiyuki Kumagai, Koh-ichi Nagata

EMBO Mol Med. 2014 Mar; 6(3): 414–429. Published online 2014 Jan 29. doi: 10.1002/emmm.201303069

PMCID:: PMC3958314

Abstract Article PDF–4.2M

Select item 33415686.

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

Alessandra Terracciano, Florence Renaldo, Ginevra Zanni, Adele D’Amico, Anna Pastore, Sabina Barresi, Enza Maria Valente, Fiorella Piemonte, Giulia Tozzi, Rosalba Carrozzo, Massimiliano Valeriani, Renata Boldrini, Eugenio Mercuri, Filippo Maria Santorelli, Enrico Bertini

Eur J Paediatr Neurol. 2012 May; 16-222(3): 248–256. doi: 10.1016/j.ejpn.2011.07.016

PMCID:: PMC3341568

Abstract Article

Select item 26858897.

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31

S. Amer Riazuddin, Laleh Amiri-Kordestani, Haiba Kaul, Tariq Butt, Xiaodong Jiao, Sheikh Riazuddin, J. Fielding Hejtmancik

Mol Vis. 2009; 15: 1050–1056. Published online 2009 May 22.

PMCID:: PMC2685889

Abstract Article PDF–10M

Select item 3058768.

LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum

John R. Tyson, Colin J. Stirling

EMBO J. 2000 Dec 1; 19(23): 6440–6452. doi: 10.1093/emboj/19.23.6440

PMCID:: PMC305876

Abstract Article PDF–585K

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