PMC Articles for MedGen (Select 75727) - PMC

Links from MedGen

Items: 1 to 20 of 210

<< First< Prev

Page of 11

Select item 16839081.

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.

P I Patel, C Garcia, R Montes de Oca-Luna, R I Malamut, B Franco, S Slaugenhaupt, A Chakravarti, J R Lupski

Am J Hum Genet. 1990 Dec; 47(6): 926–934.

PMCID:: PMC1683908

Summary Page Browse PDF–1.6M

Select item 30082172.

Nerve-dependent changes in skeletal muscle myosin heavy chain after experimental denervation, cross-reinnervation and in a demyelinating mouse model of Charcot-Marie-Tooth disease type 1A

Alison M. Maggs, Clare Huxley, Simon M. Hughes

Muscle Nerve. Author manuscript; available in PMC 2010 Dec 22.

Published in final edited form as: Muscle Nerve. 2008 Dec; 38(6): 1572–1584. doi: 10.1002/mus.21106

PMCID:: PMC3008217

Abstract Article PDF–3.9M

Select item 58420323.

Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients

Sooyeon Lee, Hannah Bazick, Vinita Chittoor-Vinod, Mohammed Omar Al Salihi, Guangbin Xia, Lucia Notterpek

Am J Pathol. 2018 Mar; 188(3): 728–738. doi: 10.1016/j.ajpath.2017.10.021

PMCID:: PMC5842032

Abstract Article

Select item 60377504.

Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A

Ji Eun Choi, Jin Myoung Seok, Jungmin Ahn, Yoon Sang Ji, Kyung Myun Lee, Sung Hwa Hong, Byung-Ok Choi, Il Joon Moon

Sci Rep. 2018; 8: 10335. Published online 2018 Jul 9. doi: 10.1038/s41598-018-28501-y

PMCID:: PMC6037750

Abstract Article PDF–1.2M

Select item 60727475.

Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy

R. Fledrich, T. Abdelaal, L. Rasch, V. Bansal, V. Schütza, B. Brügger, C. Lüchtenborg, T. Prukop, J. Stenzel, R. U. Rahman, D. Hermes, D. Ewers, W. Möbius, T. Ruhwedel, I. Katona, J. Weis, D. Klein, R. Martini, W. Brück, W. C. Müller, S. Bonn, I. Bechmann, K. A. Nave, R. M. Stassart, M. W. Sereda

Nat Commun. 2018; 9: 3025. Published online 2018 Aug 2. doi: 10.1038/s41467-018-05420-0

PMCID:: PMC6072747

Abstract Article PDF–4.0M

Select item 28655686.

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

Jia Huang, Xingyao Wu, Gladys Montenegro, Justin Price, Gaofeng Wang, Jeffery M. Vance, Michael E. Shy, Stephan Züchner

J Neurol. Author manuscript; available in PMC 2010 May 6.

Published in final edited form as: J Neurol. 2010 May; 257(5): 735–741. Published online 2009 Dec 1. doi: 10.1007/s00415-009-5401-2

PMCID:: PMC2865568

Abstract Article PDF–2.0M

Select item 61615517.

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 28003858.

Shortened internodal length of dermal myelinated nerve fibres in Charcot–Marie-Tooth disease type 1A

Mario A. Saporta, Istvan Katona, Richard A. Lewis, Stacey Masse, Michael E. Shy, Jun Li

Brain. 2009 Dec; 132(12): 3263–3273. Published online 2009 Nov 18. doi: 10.1093/brain/awp274

PMCID:: PMC2800385

Abstract Article PDF–944K

Select item 27844789.

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

Camiel Verhamme, Rob J de Haan, Marinus Vermeulen, Frank Baas, Marianne de Visser, Ivo N van Schaik

BMC Med. 2009; 7: 70. Published online 2009 Nov 12. doi: 10.1186/1741-7015-7-70

PMCID:: PMC2784478

Abstract Article PDF–478K

Select item 275572010.

P2X7-mediated Increased Intracellular Calcium Causes Functional Derangement in Schwann Cells from Rats with CMT1A Neuropathy

Lucilla Nobbio, Laura Sturla, Fulvia Fiorese, Cesare Usai, Giovanna Basile, Iliana Moreschi, Federica Benvenuto, Elena Zocchi, Antonio De Flora, Angelo Schenone, Santina Bruzzone

J Biol Chem. 2009 Aug 21; 284(34): 23146–23158. Published online 2009 Jun 22. doi: 10.1074/jbc.M109.027128

PMCID:: PMC2755720

Abstract Article PDF–3.0M

Select item 272491511.

PMP22 expression in dermal nerve myelin from patients with CMT1A

Istvan Katona, Xingyao Wu, Shawna M. E. Feely, Stephanie Sottile, Carly E. Siskind, Lindsey J. Miller, Michael E. Shy, Jun Li

Brain. 2009 Jul; 132(7): 1734–1740. Published online 2009 May 15. doi: 10.1093/brain/awp113

PMCID:: PMC2724915

Abstract Article PDF–204K

Select item 659797412.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

Feifei Tao, Gary W. Beecham, Adriana P. Rebelo, Susan H. Blanton, John J. Moran, Camila Lopez-Anido, John Svaren, Lisa Abreu, Devon Rizzo, Callyn A. Kirk, Xingyao Wu, Shawna Feely, Camiel Verhamme, Mario A. Saporta, David N. Herrmann, John W. Day, Charlotte J. Sumner, Thomas E. Lloyd, Jun Li, Sabrina W. Yum, Franco Taroni, Frank Baas, Byung-Ok Choi, Davide Pareyson, Steven S. Scherer, Mary M. Reilly, Michael E. Shy, Stephan Züchner, the Inherited Neuropathy Consortium

J Neuromuscul Dis. 2019; 6(2): 201–211. Prepublished online 2019 Apr 3. Published online 2019 May 21. doi: 10.3233/JND-190377

PMCID:: PMC6597974

Abstract Article PDF–877K

Select item 268685613.

A Family Harboring CMT1A Duplication and HNPP Deletion

Jung Hwa Lee, Hee Jin Kang, Hyunseok Song, Su Jin Hwang, Sun-Young Cho, Sang-Beom Kim, Joonki Kim, Ki Wha Chung, Byung-Ok Choi

J Clin Neurol. 2007 Jun; 3(2): 101–104. Published online 2007 Jun 20. doi: 10.3988/jcn.2007.3.2.101

PMCID:: PMC2686856

Abstract Article PDF–491K

Select item 672600314.

Altered Ion Channels in an Animal Model of Charcot-Marie-Tooth Disease Type IA

Jérôme J. Devaux, Steven S. Scherer

J Neurosci. 2005 Feb 9; 25(6): 1470–1480. doi: 10.1523/JNEUROSCI.3328-04.2005

PMCID:: PMC6726003

Abstract Article PDF–734K

Select item 207754115.

Charcot–Marie–Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long‐term follow‐up study

J Berciano, E Gallardo, A García, J Infante, I Mateo, O Combarros

J Neurol Neurosurg Psychiatry. 2006 Oct; 77(10): 1169–1176. Published online 2006 Jun 20. doi: 10.1136/jnnp.2006.093443

PMCID:: PMC2077541

Abstract Article PDF–1.2M

Select item 695231516.

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

Hongge Wang, Matthew Davison, Kathryn Wang, Tai‐He Xia, Martin Kramer, Katherine Call, Jun Luo, Xingyao Wu, Riccardo Zuccarino, Chelsea Bacon, Yunhong Bai, John J. Moran, Laurie Gutmann, Shawna M. E. Feely, Tiffany Grider, Alexander M. Rossor, Mary M. Reilly, John Svaren, Michael E. Shy

Ann Clin Transl Neurol. 2020 Jan; 7(1): 69–82. Published online 2019 Dec 12. doi: 10.1002/acn3.50965

PMCID:: PMC6952315

Abstract Article PDF–1.1M

Select item 191455717.

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

I. P. Blair, J. Nash, M. J. Gordon, G. A. Nicholson

Am J Hum Genet. 1996 Mar; 58(3): 472–476.

PMCID:: PMC1914557

Summary Page Browse PDF–951K

Select item 723894818.

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Vera Fridman, Stefan Sillau, Gyula Acsadi, Chelsea Bacon, Kimberly Dooley, Joshua Burns, John Day, Shawna Feely, Richard S. Finkel, Tiffany Grider, Laurie Gutmann, David N. Herrmann, Callyn A. Kirk, Sarrah A. Knause, Matilde Laurá, Richard A. Lewis, Jun Li, Thomas E. Lloyd, Isabella Moroni, Francesco Muntoni, Emanuela Pagliano, Chiara Pisciotta, Giuseppe Piscosquito, Sindhu Ramchandren, Mario Saporta, Reza Sadjadi, Rosemary R. Shy, Carly E. Siskind, Charlotte J. Sumner, David Walk, Janel Wilcox, Sabrina W. Yum, Stephan Züchner, Steven S. Scherer, Davide Pareyson, Mary M. Reilly, Michael E. Shy, the Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)

Neurology. 2020 Mar 3; 94(9): e884–e896. doi: 10.1212/WNL.0000000000009035

PMCID:: PMC7238948

Abstract Article PDF–555K

Select item 726341919.

Variation in SIPA1L2 Is Correlated with Phenotype Modification in Charcot– Marie– Tooth Disease Type 1A

Feifei Tao, Gary W. Beecham, Adriana P. Rebelo, Susan H. Blanton, John J. Moran, Camila Lopez-Anido, John Svaren, Jasper M. Morrow, Lisa Abreu, Devon Rizzo, Callyn A. Kirk, Xingyao Wu, Shawna Feely, Camiel Verhamme, Mario A. Saporta, David N. Herrmann, John W. Day, Charlotte J. Sumner, Thomas E. Lloyd, Jun Li, Sabrina W. Yum, Franco Taroni, Frank Baas, Byung-Ok Choi, Davide Pareyson, Steven S. Scherer, Mary M. Reilly, Michael E. Shy, Stephan Züchner, Inherited Neuropathy Consortium

Ann Neurol. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: Ann Neurol. 2019 Mar; 85(3): 316–330. doi: 10.1002/ana.25426

PMCID:: PMC7263419

Abstract Article PDF–1.8M

Select item 742530420.

Intraepidermal nerve fibre density as biomarker in Charcot–Marie–Tooth disease type 1A

Beate Hartmannsberger, Kathrin Doppler, Julia Stauber, Beate Schlotter-Weigel, Peter Young, Michael W Sereda, Claudia Sommer

Brain Commun. 2020; 2(1): fcaa012. Published online 2020 Feb 12. doi: 10.1093/braincomms/fcaa012

PMCID:: PMC7425304

Abstract Article PDF–1001K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 210

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity