PMC Articles for MedGen (Select 901897) - PMC

Select item 113302151.

Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum

Ceren Günbey, Büşranur Çavdarlı, Rahşan Göçmen, Muharrem Yazıcı, Çağrı Mesut Temuçin, Özkan Özdemir, Sebahattin Çırak, Göknur Haliloğlu

Ann Clin Transl Neurol. 2024 Aug; 11(8): 2088–2099. Published online 2024 Jun 21. doi: 10.1002/acn3.52129

PMCID:: PMC11330215

Article PDF–1.2M

Select item 87966862.

Shamima Rahman, William C. Copeland

Nat Rev Neurol. Author manuscript; available in PMC 2022 Jan 28.

Published in final edited form as: Nat Rev Neurol. 2019 Jan; 15(1): 40–52. doi: 10.1038/s41582-018-0101-0

PMCID:: PMC8796686

Article PDF–1.2M

Select item 78244353.

Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation

Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Katarzyna Tońska, Anna M. Kamińska, Anna Kostera-Pruszczyk

Genes (Basel) 2021 Jan; 12(1): 54. Published online 2020 Dec 31. doi: 10.3390/genes12010054

PMCID:: PMC7824435

Article PDF–4.8M

Select item 72735324.

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

Jianwen Deng, Jiaxi Yu, Pidong Li, Xinghua Luan, Li Cao, Juan Zhao, Meng Yu, Wei Zhang, He Lv, Zhiying Xie, LingChao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Qingqing Wang, Jing Liu, Min Zhu, Xueyu Guo, Yanan Su, Yu Liang, Fan Liang, Tomohiro Hayashi, Meiko Hashimoto Maeda, Tatsuro Sato, Shigehisa Ura, Yasushi Oya, Masashi Ogasawara, Aritoshi Iida, Ichizo Nishino, Chang Zhou, Chuanzhu Yan, Yun Yuan, Daojun Hong, Zhaoxia Wang

Am J Hum Genet. 2020 Jun 4; 106(6): 793–804. Published online 2020 May 14. doi: 10.1016/j.ajhg.2020.04.011

PMCID:: PMC7273532

Article PDF–2.2M

Select item 71106545.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC Med Genet. 2020; 21: 68. Published online 2020 Mar 31. doi: 10.1186/s12881-020-01002-4

PMCID:: PMC7110654

Article PDF–727K

Select item 50558536.

Human mitochondrial DNA replication machinery and disease

Matthew J. Young, William C. Copeland

Curr Opin Genet Dev. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Curr Opin Genet Dev. 2016 Jun; 38: 52–62. Published online 2016 Apr 9. doi: 10.1016/j.gde.2016.03.005

PMCID:: PMC5055853

Article PDF–1.1M

Select item 45725677.

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Aurelio Reyes, Laura Melchionda, Alessia Nasca, Franco Carrara, Eleonora Lamantea, Alice Zanolini, Costanza Lamperti, Mingyan Fang, Jianguo Zhang, Dario Ronchi, Sara Bonato, Gigliola Fagiolari, Maurizio Moggio, Daniele Ghezzi, Massimo Zeviani

Am J Hum Genet. 2015 Jul 2; 97(1): 186–193. doi: 10.1016/j.ajhg.2015.05.013

PMCID:: PMC4572567

Article PDF–2.3M

Select item 43561368.

Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report

Shuhei Yamada, Yoshiko Okita, Tomoko Shofuda, Ema Yoshioka, Masahiro Nonaka, Kosuke Mori, Shin Nakajima, Yonehiro Kanemura

BMC Neurol. 2015; 15: 25. Published online 2015 Mar 10. doi: 10.1186/s12883-015-0286-4

PMCID:: PMC4356136

Article PDF–1.4M

Select item 33080559.

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

Atsushi Takata, Maiko Kato, Masayuki Nakamura, Takeo Yoshikawa, Shigenobu Kanba, Akira Sano, Tadafumi Kato

Genome Biol. 2011; 12(9): R92. Published online 2011 Sep 28. doi: 10.1186/gb-2011-12-9-r92

PMCID:: PMC3308055

Article PDF–614K

Select item 289119210.

Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations

Lee-Jun C. Wong, Robert K. Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S. Schmitt, Cavatina Truong, Margherita Milone, Bruce H. Cohen, Beverly Wical, Jaya Ganesh, Alice A. Basinger, Barbara K. Burton, Kathryn Swoboda, Donald L. Gilbert, Adeline Vanderver, Russell P. Saneto, Bruno Maranda, Georgianne Arnold, Jose E. Abdenur, Paula J. Waters, William C. Copeland

Hum Mutat. Author manuscript; available in PMC 2010 Jun 24.

Published in final edited form as: Hum Mutat. 2008 Sep; 29(9): E150–E172. doi: 10.1002/humu.20824

PMCID:: PMC2891192

Article PDF–671K

Select item 285962811.

Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk

C Lamperti, M Zeviani

Acta Myol. 2009 Jul; 28(1): 2–11.

PMCID:: PMC2859628

Article PDF–309K

Select item 263877112.

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Steffi Goffart, Helen M. Cooper, Henna Tyynismaa, Sjoerd Wanrooij, Anu Suomalainen, Johannes N. Spelbrink

Hum Mol Genet. 2009 Jan 15; 18(2): 328–340. Published online 2008 Oct 29. doi: 10.1093/hmg/ddn359

PMCID:: PMC2638771

Article PDF–1.0M

Select item 137732013.

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

M Hirano, J Garcia-de-Yebenes, A C Jones, I Nishino, S DiMauro, J R Carlo, A N Bender, A F Hahn, L M Salberg, D E Weeks, T G Nygaard

Am J Hum Genet. 1998 Aug; 63(2): 526–533. doi: 10.1086/301979

PMCID:: PMC1377320

Summary PDF–447K

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