PMC Articles for MedGen (Select 1778853) - PMC

Select item 103726191.

Mycoplasma DnaK increases DNA copy number variants in vivo

Francesca Benedetti, Giovannino Silvestri, Saman Saadat, Frank Denaro, Olga S. Latinovic, Harry Davis, Sumiko Williams, Joseph Bryant, Rudy Ippodrino, Chozha V. Rathinam, Robert C. Gallo, Davide Zella

Proc Natl Acad Sci U S A. 2023 Jul 25; 120(30): e2219897120. Published online 2023 Jul 17. doi: 10.1073/pnas.2219897120

Correction in:: Proc Natl Acad Sci U S A. 2023 Dec 19; 120(51): e2319798120.

PMCID:: PMC10372619

Abstract Article PDF–3.5M

Select item 81992712.

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

Yasaman Pakdaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power, Ståle Ellingsen, Martin Krooni, Line I. Berge, Adrienne Sexton, Laurence A. Bindoff, Per M. Knappskog, Stefan Johansson, Ingvild Aukrust

Int J Mol Sci. 2021 Jun; 22(11): 5870. Published online 2021 May 30. doi: 10.3390/ijms22115870

PMCID:: PMC8199271

Abstract Article PDF–1.3M

Select item 74270993.

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

Dale Bryant, Marian Seda, Emma Peskett, Constance Maurer, Gideon Pomeranz, Marcus Ghosh, Thomas A. Hawkins, James Cleak, Sanchari Datta, Hanaa Hariri, Kaitlyn M. Eckert, Daniyal J. Jafree, Claire Walsh, Charalambos Demetriou, Miho Ishida, Cristina Alemán-Charlet, Letizia Vestito, Rimante Seselgyte, Jeffrey G. McDonald, Maria Bitner-Glindzicz, Myriam Hemberger, Jason Rihel, Lydia Teboul, W. Mike Henne, Dagan Jenkins, Gudrun E. Moore, Philip Stanier

Sci Rep. 2020; 10: 13763. Published online 2020 Aug 13. doi: 10.1038/s41598-020-70797-2

PMCID:: PMC7427099

Abstract Article PDF–2.0M

Select item 73209594.

Retinal axonal degeneration in Niemann–Pick type C disease

Joachim Havla, Marlene Moser, Clara Sztatecsny, Amelie S. Lotz-Havla, Esther M. Maier, Baccara Hizli, Regina Schinner, Tania Kümpfel, Michael Strupp, Tatiana Bremova-Ertl, Susanne A. Schneider

J Neurol. 2020; 267(7): 2070–2082. Published online 2020 Mar 28. doi: 10.1007/s00415-020-09796-2

PMCID:: PMC7320959

Abstract Article PDF–1.0M

Select item 66253895.

Novel homozygous ataxia-telangiectasia (A-T) mutated gene mutation identified in a Chinese pedigree with A-T

Weicheng Chen, Sida Liu, Huifang Hu, Gang Chen, Shaicheng Zhu, Bing Jia, Wei Sheng, Guoying Huang

Mol Med Rep. 2019 Aug; 20(2): 1655–1662. Published online 2019 Jun 20. doi: 10.3892/mmr.2019.10402

PMCID:: PMC6625389

Abstract Article PDF–961K

Select item 55075776.

Copy number variation in pediatric multiple sclerosis

JP McElroy, LB Krupp, BA Johnson, JL McCauley, Z Qi, SJ Caillier, PA Gourraud, J Yu, L Nathanson, AL Belman, SL Hauser, E Waubant, DJ Hedges, JR Oksenberg

Mult Scler. Author manuscript; available in PMC 2017 Jul 12.

Published in final edited form as: Mult Scler. 2013 Jul; 19(8): 1014–1021. Published online 2012 Dec 13. doi: 10.1177/1352458512469696

PMCID:: PMC5507577

Abstract Article PDF–1.0M

Select item 37951367.

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 35821498.

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes

Andrea Prodosmo, Andrea De Amicis, Cecilia Nisticò, Mario Gabriele, Giuliana Di Rocco, Laura Monteonofrio, Maria Piane, Enrico Cundari, Luciana Chessa, Silvia Soddu

J Clin Invest. 2013 Mar 1; 123(3): 1335–1342. Published online 2013 Feb 1. doi: 10.1172/JCI67289

PMCID:: PMC3582149

Abstract Article PDF–1.5M

Select item 19148119.

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

J. Wright, S. Teraoka, S. Onengut, A. Tolun, R. A. Gatti, H. D. Ochs, P. Concannon

Am J Hum Genet. 1996 Oct; 59(4): 839–846.

PMCID:: PMC1914811

Summary Page Browse PDF–1.4M

Select item 180844210.

Cone rod dystrophies

Christian P Hamel

Orphanet J Rare Dis. 2007; 2: 7. Published online 2007 Feb 1. doi: 10.1186/1750-1172-2-7

PMCID:: PMC1808442

Abstract Article PDF–749K

Select item 168406511.

The incidence and gene frequency of ataxia-telangiectasia in the United States.

M Swift, D Morrell, E Cromartie, A R Chamberlin, M H Skolnick, D T Bishop

Am J Hum Genet. 1986 Nov; 39(5): 573–583.

PMCID:: PMC1684065

Summary Page Browse PDF–1.0M

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