PMC Articles for MedGen (Select 1802496) - PMC

Select item 105788811.

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn

Stephanie Efthymiou, Luiz E. Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F. Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Helio A. G. Teive, Henry Houlden

Ann Clin Transl Neurol. 2023 Oct; 10(10): 1910–1916. Published online 2023 Aug 8. doi: 10.1002/acn3.51874

PMCID:: PMC10578881

Abstract Article PDF–2.3M

Select item 114996762.

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations

Ashraf Yahia, Ahlam A. A. Hamed, Inaam N. Mohamed, Maha A. Elseed, Mustafa A. Salih, Sarah M. El-sadig, Hassab Elrasoul Siddig, Ali Elsir Musa Nasreldien, Mohamed Ahmed Abdullah, Maha Elzubair, Farouk Yassen Omer, Aisha Motwakil Bakhiet, Rayan Abubaker, Fatima Abozar, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Isra Z. M. Eltazi, Zulfa Omer, Hiba Malik, Mayada O. E. Mohamed, Ali A. Elhassan, Eman O. E. Mohamed, Ahmed K. M. A. Ahmed, Elhami A. A. Ahmed, Esraa Eltaraifee, Bidour K. Hussein, Amal S. I. Abd Allah, Lina Salah, Mohamed Nimir, Omnia M. Tag Elseed, Tasneem E. A. Elhassan, Abubakr Elbashier, Esraa S. A. Alfadul, Moneeb Fadul, Khalil F. Ali, Shaimaa Omer M. A. Taha, Elfatih E. Bushara, Mutaz Amin, Mahmoud Koko, Muntaser E. Ibrahim, Ammar E. Ahmed, Liena E. O. Elsayed, Giovanni Stevanin

Eur J Hum Genet. 2024 Oct; 32(10): 1214–1226. Published online 2023 Apr 3. doi: 10.1038/s41431-023-01344-6

PMCID:: PMC11499676

Abstract Article PDF–1.4M

Select item 112514663.

SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum

Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Rosa Pasquariello, Stefano Doccini, Flavia Privitera, Alessandro Filla, Alessandro Tessitore, Filippo Maria Santorelli

Ann Clin Transl Neurol. 2024 Jul; 11(7): 1879–1886. Published online 2024 Jun 5. doi: 10.1002/acn3.52094

PMCID:: PMC11251466

Abstract Article PDF–608K

Select item 105305844.

Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome

Katrina Kuhn, Howard M. Lederman, Sharon A. McGrath-Morrow

Expert Opin Investig Drugs. Author manuscript; available in PMC 2024 Aug 28.

Published in final edited form as: Expert Opin Investig Drugs. 2023 Jul-Dec; 32(8): 693–704. Published online 2023 Aug 28. doi: 10.1080/13543784.2023.2249399

PMCID:: PMC10530584

Abstract Article PDF–379K

Select item 86780145.

Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review

Xiaoyang Liu, Linlin Wang, Jiajun Chen, Chunyang Kang, Jia Li

Medicine (Baltimore) 2021 Dec 17; 100(50): e28008. Published online 2021 Dec 17. doi: 10.1097/MD.0000000000028008

PMCID:: PMC8678014

Abstract Article PDF–398K

Select item 73839146.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

Leonardo Caporali, Stefania Magri, Andrea Legati, Valentina Del Dotto, Francesca Tagliavini, Francesca Balistreri, Alessia Nasca, Chiara La Morgia, Michele Carbonelli, Maria L. Valentino, Eleonora Lamantea, Silvia Baratta, Ludger Schöls, Rebecca Schüle, Piero Barboni, Maria L. Cascavilla, Alessandra Maresca, Mariantonietta Capristo, Anna Ardissone, Davide Pareyson, Gabriella Cammarata, Lisa Melzi, Massimo Zeviani, Lorenzo Peverelli, Costanza Lamperti, Stefania B. Marzoli, Mingyan Fang, Matthis Synofzik, Daniele Ghezzi, Valerio Carelli, Franco Taroni

Ann Neurol. 2020 Jul; 88(1): 18–32. Published online 2020 Apr 21. doi: 10.1002/ana.25723

PMCID:: PMC7383914

Abstract Article PDF–5.1M

Select item 62879147.

Overcoming the Divide Between Ataxias and Spastic Paraplegias: Shared Phenotypes, Genes, and Pathways

Matthis Synofzik, Rebecca Schüle

Mov Disord. Author manuscript; available in PMC 2018 Dec 10.

Published in final edited form as: Mov Disord. 2017 Mar; 32(3): 332–345. Published online 2017 Feb 14. doi: 10.1002/mds.26944

PMCID:: PMC6287914

Abstract Article PDF–601K

Select item 40216088.

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 37566629.

Physiological roles and diseases of tmem16/anoctamin proteins: are they all chloride channels?

Charity Duran, H Criss Hartzell

Acta Pharmacol Sin. 2011 Jun; 32(6): 685–692. Published online 2011 Jun 3. doi: 10.1038/aps.2011.48

PMCID:: PMC3756662

Abstract Article PDF–547K

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