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Select item 73043611.

Early-onset cerebellar ataxia in a patient with CMT2A2

Ricardo Madrid, Sara R. Guariglia, Andrea Haworth, William Korosh, Maureen Gavin, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005108. doi: 10.1101/mcs.a005108

PMCID:: PMC7304361

Abstract Article PDF–1.0M

Select item 58395542.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320

PMCID:: PMC5839554

Abstract Article PDF–1.4M

Select item 30781373.

An Unusual Splice Defect in the Mitofusin 2 Gene (MFN2) Is Associated with Degenerative Axonopathy in Tyrolean Grey Cattle

Cord Drögemüller, Ursula Reichart, Torsten Seuberlich, Anna Oevermann, Martin Baumgartner, Kathrin Kühni Boghenbor, Michael H. Stoffel, Claudia Syring, Mireille Meylan, Simone Müller, Mathias Müller, Birgit Gredler, Johann Sölkner, Tosso Leeb

PLoS One. 2011; 6(4): e18931. Published online 2011 Apr 15. doi: 10.1371/journal.pone.0018931

PMCID:: PMC3078137

Abstract Article PDF–802K

Select item 111367264.

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies

Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio, Ida Paramonov, Hanns Lochmüller, Rita Horvath

J Neurol. 2024; 271(6): 3546–3553. Published online 2024 Mar 28. doi: 10.1007/s00415-024-12319-y

PMCID:: PMC11136726

Abstract Article PDF–727K

Select item 108088575.

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

Govinda Sharma, Mashiat Zaman, Rasha Sabouny, Matthew Joel, Kristina Martens, Davide Martino, A.P. Jason de Koning, Gerald Pfeffer, Timothy E. Shutt

Version 2. F1000Res. 2021; 10: 606. Published online 2022 Sep 2. doi: 10.12688/f1000research.53230.2

PMCID:: PMC10808857

Abstract Article PDF–4.9M

Select item 107893256.

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand

Pimchanok Kulsirichawaroj, Yanin Suksangkharn, Da Eun Nam, Theeraphong Pho-iam, Chanin Limwongse, Ki Wha Chung, Oranee Sanmaneechai, Stephan L. Zuchner, Byung-Ok Choi

J Neuromuscul Dis. 2024; 11(1): 191–199. Prepublished online 2023 Nov 2. Published online 2024 Jan 2. doi: 10.3233/JND-230174

PMCID:: PMC10789325

Abstract Article PDF–301K

Select item 107680977.

A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation

Xin Xu, Fen Lu, Senjie Du, Li Zhang

BMC Pediatr. 2024; 24: 21. Published online 2024 Jan 5. doi: 10.1186/s12887-023-04441-z

PMCID:: PMC10768097

Abstract Article PDF–1.5M

Select item 106763098.

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A

Federica Rizzo, Silvia Bono, Marc David Ruepp, Sabrina Salani, Linda Ottoboni, Elena Abati, Valentina Melzi, Chiara Cordiglieri, Serena Pagliarani, Roberta De Gioia, Alessia Anastasia, Michela Taiana, Manuela Garbellini, Simona Lodato, Paolo Kunderfranco, Daniele Cazzato, Daniele Cartelli, Caterina Lonati, Nereo Bresolin, Giacomo Comi, Monica Nizzardo, Stefania Corti

Cell Mol Life Sci. 2023 Dec; 80(12): 373. Published online 2023 Nov 25. doi: 10.1007/s00018-023-05018-w

PMCID:: PMC10676309

Abstract Article PDF–3.9M

Select item 106199789.

A human mitofusin 2 mutation can cause mitophagic cardiomyopathy

Antonietta Franco, Jiajia Li, Daniel P Kelly, Ray E Hershberger, Ali J Marian, Renate M Lewis, Moshi Song, Xiawei Dang, Alina D Schmidt, Mary E Mathyer, John R Edwards, Cristina de Guzman Strong, Gerald W Dorn

eLife. 2023; 12: e84235. Published online 2023 Nov 1. doi: 10.7554/eLife.84235

PMCID:: PMC10619978

Abstract Article PDF–15M

Select item 989659810.

Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation

Paola Zanfardino, Alessandro Amati, Easter Anna Petracca, Filippo M. Santorelli, Vittoria Petruzzella

Acta Myol. 2022; 41(4): 201–206. Published online 2022 Dec 31. doi: 10.36185/2532-1900-085

PMCID:: PMC9896598

Abstract Article PDF–305K

Select item 980638111.

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report

Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky

J Int Med Res. 2022 Dec; 50(12): 03000605221139718. Published online 2022 Dec 25. doi: 10.1177/03000605221139718

PMCID:: PMC9806381

Abstract Article PDF–536K

Select item 971187812.

A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model

Yurie Sato-Yamada, Amy Strickland, Yo Sasaki, Joseph Bloom, Aaron DiAntonio, Jeffrey Milbrandt

J Clin Invest. 2022 Dec 1; 132(23): e161566. Published online 2022 Dec 1. doi: 10.1172/JCI161566

PMCID:: PMC9711878

Abstract Article PDF–7.0M

Select item 956837313.

中国人群遗传性周围神经病的致病基因分布

刘小璇, 段晓慧, 张朔, 孙阿萍, 张英爽, 樊东升

Beijing Da Xue Xue Bao Yi Xue Ban. 2022 Oct 18; 54(5): 874–883. Chinese. Published online 2022 Sep 14. doi: 10.19723/j.issn.1671-167X.2022.05.015

PMCID:: PMC9568373

Abstract Article PDF–3.2M

Select item 955311614.

Mitochondrial Dysfunction and Pharmacodynamics of Mitofusin Activation in Murine Charcot-Marie-Tooth Disease Type 2A

Antonietta Franco, Xiawei Dang, Lihong Zhang, Perry B. Molinoff, Gerald W. Dorn, II

J Pharmacol Exp Ther. 2022 Nov; 383(2): 137–148. Published online 2022 Nov. doi: 10.1124/jpet.122.001332

PMCID:: PMC9553116

Abstract Article PDF–1.8M

Select item 948092615.

Genotype–phenotype characteristics of Vietnamese patients diagnosed with Charcot–Marie–Tooth disease

Trung‐Hieu Nguyen‐Le, Minh Duc Do, Linh Hoang Gia Le, Quynh Nhu Nguyen Nhat, Nghia Trong Tien Hoang, Tuan Van Le, Thao Phuong Mai

Brain Behav. 2022 Sep; 12(9): e2744. Published online 2022 Aug 8. doi: 10.1002/brb3.2744

PMCID:: PMC9480926

Abstract Article PDF–524K

Select item 925930716.

Yasuyoshi Kimura, Akira Nishikawa, Akihiro Hashiguchi, Masaki Etoh, Akiko Yoshimura, Kanako Asai, Noriko Miyashita, Hiroshi Takashima, Hisae Sumi, Takashi Naka

Intern Med. 2022 Jun 1; 61(11): 1743–1747. Published online 2021 Nov 20. doi: 10.2169/internalmedicine.6487-20

PMCID:: PMC9259307

Abstract Article PDF–615K

Select item 900801217.

Clinical and genetic features of a cohort of patients with MFN2-related neuropathy

Elena Abati, Arianna Manini, Daniele Velardo, Roberto Del Bo, Laura Napoli, Federica Rizzo, Maurizio Moggio, Nereo Bresolin, Emilia Bellone, Maria Teresa Bassi, Maria Grazia D’Angelo, Giacomo Pietro Comi, Stefania Corti

Sci Rep. 2022; 12: 6181. Published online 2022 Apr 13. doi: 10.1038/s41598-022-10220-0

PMCID:: PMC9008012

Abstract Article PDF–1.5M

Select item 894761018.

Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation

Xiawei Dang, Emily K. Walton, Barbara Zablocka, Robert H. Baloh, Michael E. Shy, Gerald W. Dorn, II

Cells. 2022 Mar; 11(6): 1053. Published online 2022 Mar 21. doi: 10.3390/cells11061053

PMCID:: PMC8947610

Abstract Article PDF–2.4M

Select item 884275719.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Abstract Article PDF–779K

Select item 881770420.

Antisense Oligonucleotide-Mediated Silencing of Mitochondrial Fusion and Fission Factors Modulates Mitochondrial Dynamics and Rescues Mitochondrial Dysfunction

Daniel A. Garcia, Andrew F. Powers, Thomas A. Bell, 3rd, Shuling Guo, Mariam Aghajan

Nucleic Acid Ther. February 2022; 32(1): 51–65. Published online 2022 Jan 31. doi: 10.1089/nat.2021.0029

PMCID:: PMC8817704

Abstract Article PDF–2.1M

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PMC Articles for MedGen (Select 1648317) (96)
PMC
PREDICTED: Cherax quadricarinatus zinc finger BED domain-containing protein 5-li...
PREDICTED: Cherax quadricarinatus zinc finger BED domain-containing protein 5-like (LOC128705038), mRNA
gi|2449299897|ref|XM_053800290.1|

Nucleotide
PREDICTED: Cherax quadricarinatus U6 spliceosomal RNA (LOC128705046), ncRNA
PREDICTED: Cherax quadricarinatus U6 spliceosomal RNA (LOC128705046), ncRNA
gi|2449299915|ref|XR_008409639.1|

Nucleotide

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