PMC Links for Books (Select 1492832) - PMC

Select item 78057911.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Menelaos Pipis, Shawna M E Feely, James M Polke, Mariola Skorupinska, Laura Perez, Rosemary R Shy, Matilde Laura, Jasper M Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujovic, Thomas E Lloyd, Gyula Acsadi, Sabrina W Yum, Richard A Lewis, Richard S Finkel, David N Herrmann, John W Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horvath, Nicholas E Johnson, Stephan Züchner, Davide Pareyson, Steven S Scherer, Alexander M Rossor, Michael E Shy, Mary M Reilly, for the Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)

Brain. 2020 Dec; 143(12): 3589–3602. Published online 2021 Jan 8. doi: 10.1093/brain/awaa323

PMCID:: PMC7805791

Abstract Article PDF–768K

Select item 74972892.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 65620343.

Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan

Yun‐Hsin Hsu, Kon‐Ping Lin, Yuh‐Cherng Guo, Yu‐Shuen Tsai, Yi‐Chu Liao, Yi‐Chung Lee

Ann Clin Transl Neurol. 2019 Jun; 6(6): 1090–1101. Published online 2019 May 27. doi: 10.1002/acn3.50797

PMCID:: PMC6562034

Abstract Article PDF–3.7M

Select item 64159444.

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

Lois Dankwa, Jessica Richardson, William W. Motley, Mena Scavina, Steve Courel, Tanya Bardakjian, Stephan Züchner, Steven S. Scherer

Neuromuscul Disord. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Neuromuscul Disord. 2019 Feb; 29(2): 134–137. Published online 2018 Dec 21. doi: 10.1016/j.nmd.2018.12.008

PMCID:: PMC6415944

Abstract Article PDF–359K

Select item 61615515.

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A

Jasper M. Morrow, Matthew R.B. Evans, Tiffany Grider, Christopher D.J. Sinclair, Daniel Thedens, Sachit Shah, Tarek A. Yousry, Michael G. Hanna, Peggy Nopoulos, John S. Thornton, Michael E. Shy, Mary M. Reilly

Neurology. 2018 Sep 18; 91(12): e1125–e1129. doi: 10.1212/WNL.0000000000006214

PMCID:: PMC6161551

Abstract Article PDF–353K

Select item 56976826.

Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study

Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Yu Hiramatsu, Junhui Yuan, Yujiro Higuchi, Jun Mitsui, Hiroyuki Ishiura, Ayako Umemura, Koichi Maruyama, Takeshi Matsushige, Shinichi Morishita, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima

J Peripher Nerv Syst. 2017 Sep; 22(3): 191–199. Published online 2017 Jul 30. doi: 10.1111/jns.12228

Correction in:: J Peripher Nerv Syst. 2018 Jun; 23(2): 149–150.

PMCID:: PMC5697682

Abstract Article PDF–430K

Select item 52438947.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D. Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong

Neurogenetics. 2017; 18(1): 49–55. Published online 2017 Jan 6. doi: 10.1007/s10048-016-0504-2

PMCID:: PMC5243894

Abstract Article PDF–2.8M

Select item 41746198.

Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement

Jung-Hwan Oh, Han Sang Lee, Dong Min Cha, Sa-Yoon Kang

Exp Neurobiol. 2014 Sep; 23(3): 266–269. Published online 2014 Sep 18. doi: 10.5607/en.2014.23.3.266

PMCID:: PMC4174619

Abstract Article PDF–2.4M

Select item 37548289.

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

Sine´ad M. Murphy, David N. Herrmann, Michael P. McDermott, Steven S. Scherer, Michael E. Shy, Mary M. Reilly, Davide Pareyson

J Peripher Nerv Syst. Author manuscript; available in PMC 2013 Aug 27.

Published in final edited form as: J Peripher Nerv Syst. 2011 Sep; 16(3): 191–198. doi: 10.1111/j.1529-8027.2011.00350.x

PMCID:: PMC3754828

Abstract Article PDF–206K

Select item 354387010.

Large Kindred Evaluation of Mitofusin 2 Novel Mutation, Extremes of Neurologic Presentations, and Preserved Nerve Mitochondria

Dr. Christopher J. Klein, Ms. Grace W. Kimmel, Dr. Sean J. Pittock, Ms. JaNean E. Engelstad, Dr. Julie M. Cunningham, Dr. Yanhong Wu, Dr. Peter J. Dyck

Arch Neurol. Author manuscript; available in PMC 2013 Jan 13.

Published in final edited form as: Arch Neurol. 2011 Oct; 68(10): 1295–1302. doi: 10.1001/archneurol.2011.225

PMCID:: PMC3543870

Abstract Article PDF–2.8M

Select item 314007411.

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

J.M. Polke, M. Laurá, D. Pareyson, F. Taroni, M. Milani, G. Bergamin, V.S. Gibbons, H. Houlden, S.C. Chamley, J. Blake, C. DeVile, R. Sandford, M.G. Sweeney, M.B. Davis, M.M. Reilly

Neurology. 2011 Jul 12; 77(2): 168–173. doi: 10.1212/WNL.0b013e3182242d4d

PMCID:: PMC3140074

Abstract Article PDF–461K

Select item 310013512.

MFN2 mutations cause severe phenotypes in most patients with CMT2A

S.M.E. Feely, M. Laura, C.E. Siskind, S. Sottile, M. Davis, V.S. Gibbons, M.M. Reilly, M.E. Shy

Neurology. 2011 May 17; 76(20): 1690–1696. Published online 2011 Apr 20. doi: 10.1212/WNL.0b013e31821a441e

PMCID:: PMC3100135

Abstract Article PDF–310K

Select item 152494213.

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

Kathrin Engelfried, Matthias Vorgerd, Michaela Hagedorn, Gerhard Haas, Jürgen Gilles, Jörg T Epplen, Moritz Meins

BMC Med Genet. 2006; 7: 53. Published online 2006 Jun 8. doi: 10.1186/1471-2350-7-53

PMCID:: PMC1524942

Abstract Article PDF–380K

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