PMC Links for Books (Select 1468012) - PMC

Links from Books

Items: 1 to 20 of 27

<< First< Prev

Page of 2

Select item 105455041.

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson, Chiara Pisciotta, Shawna M E Feely, Thomas E Lloyd, Rita Horvath, Reza Sadjadi, David N Herrmann, Jun Li, David Walk, Sabrina W Yum, Richard A Lewis, John Day, Joshua Burns, Richard S Finkel, Mario A Saporta, Sindhu Ramchandren, Michael D Weiss, Gyula Acsadi, Vera Fridman, Francesco Muntoni, Roy Poh, James M Polke, Stephan Zuchner, Michael E Shy, Steven S Scherer, Mary M Reilly, for the Inherited Neuropathies Consortium—Rare Disease Clinical Research Network

Brain. 2023 Oct; 146(10): 4336–4349. Published online 2023 Jun 7. doi: 10.1093/brain/awad187

PMCID:: PMC10545504

Abstract Article PDF–564K

Select item 81341102.

Neurosarcoidosis Presenting as Acute Infarction on Diffusion-Weighted MR Imaging: Summary of Radiologic Findings

M.H. Hodge, R.L. Williams, M.B. Fukui

AJNR Am J Neuroradiol. 2007 Jan; 28(1): 84–86.

PMCID:: PMC8134110

Abstract Article PDF–147K

Select item 67927973.

Connexin32 Mutations Associated with X-Linked Charcot–Marie–Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties

Catherine Ressot, Danielle Gomès, André Dautigny, Danielle Pham-Dinh, Roberto Bruzzone

J Neurosci. 1998 Jun 1; 18(11): 4063–4075. doi: 10.1523/JNEUROSCI.18-11-04063.1998

PMCID:: PMC6792797

Abstract Article PDF–250K

Select item 67252414.

Prenylation-Defective Human Connexin32 Mutants Are Normally Localized and Function Equivalently to Wild-Type Connexin32 in Myelinating Schwann Cells

Yan Huang, Erich E. Sirkowski, John T. Stickney, Steven S. Scherer

J Neurosci. 2005 Aug 3; 25(31): 7111–7120. doi: 10.1523/JNEUROSCI.1319-05.2005

PMCID:: PMC6725241

Abstract Article PDF–539K

Select item 65736135.

Altered Trafficking of Mutant Connexin32

Suzanne M. Deschênes, Jessica L. Walcott, Tamara L. Wexler, Steven S. Scherer, Kenneth H. Fischbeck

J Neurosci. 1997 Dec 1; 17(23): 9077–9084. doi: 10.1523/JNEUROSCI.17-23-09077.1997

PMCID:: PMC6573613

Abstract Article PDF–295K

Select item 65620346.

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 55881477.

CHARCOT–MARIE–TOOTH DISEASE TYPE 1X IN WOMEN: ELECTRODIAGNOSTIC FINDINGS

NIVEDITA U. JERATH, LAURIE GUTMANN, CHANDAN G. REDDY, MICHAEL E. SHY

Muscle Nerve. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Muscle Nerve. 2016 Oct; 54(4): 728–732. Published online 2016 Jul 4. doi: 10.1002/mus.25077

PMCID:: PMC5588147

Abstract Article PDF–118K

Select item 55779658.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

Francis B. Panosyan, Matilde Laura, Alexander M. Rossor, Chiara Pisciotta, Giuseppe Piscosquito, Joshua Burns, Jun Li, Sabrina W. Yum, Richard A. Lewis, John Day, Rita Horvath, David N. Herrmann, Michael E. Shy, Davide Pareyson, Mary M. Reilly, Steven S. Scherer, For the Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)

Neurology. 2017 Aug 29; 89(9): 927–935. doi: 10.1212/WNL.0000000000004296

PMCID:: PMC5577965

Abstract Article PDF–915K

Select item 54211749.

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

Yuan-Yuan Lu, He Lyu, Su-Qin Jin, Yue-Huan Zuo, Jing Liu, Zhao-Xia Wang, Wei Zhang, Yun Yuan

Chin Med J (Engl) 2017 May 5; 130(9): 1049–1054. doi: 10.4103/0366-6999.204925

PMCID:: PMC5421174

Abstract Article PDF–631K

Select item 538644010.

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

Pedro J. Tomaselli, Alexander M. Rossor, Alejandro Horga, Zane Jaunmuktane, Aisling Carr, Paola Saveri, Giuseppe Piscosquito, Davide Pareyson, Matilde Laura, Julian C. Blake, Roy Poh, James Polke, Henry Houlden, Mary M. Reilly

Neurology. 2017 Apr 11; 88(15): 1445–1453. doi: 10.1212/WNL.0000000000003819

PMCID:: PMC5386440

Abstract Article PDF–625K

Select item 500970111.

Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease

Margarita Olympiou, Irene Sargiannidou, Kyriaki Markoullis, Christos Karaiskos, Alexia Kagiava, Styliana Kyriakoudi, Charles K. Abrams, Kleopas A. Kleopa

Acta Neuropathol Commun. 2016; 4(1): 95. Published online 2016 Sep 1. doi: 10.1186/s40478-016-0369-5

PMCID:: PMC5009701

Abstract Article PDF–3.0M

Select item 454475312.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 451367213.

Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32

Charles K. Abrams, Mona Freidin, Feliksas Bukauskas, Kostantin Dobrenis, Thaddeus A. Bargiello, Vytas K. Verselis, Michael V. L. Bennett, Lei Chen, Zarife Sahenk

J Neurosci. 2003 Nov 19; 23(33): 10548–10558. doi: 10.1523/JNEUROSCI.23-33-10548.2003

PMCID:: PMC4513672

Abstract Article PDF–761K

Select item 435019614.

Episodic neurological dysfunction in hereditary peripheral neuropathy

Girish Baburao Kulkarni, Pooja Mailankody, Pawanraj Palu Isnwara, Chandrajit Prasad, Veerendrakumar Mustare

Ann Indian Acad Neurol. 2015 Jan-Mar; 18(1): 111–114. doi: 10.4103/0972-2327.144314

PMCID:: PMC4350196

Abstract Article PDF–674K

Select item 422267615.

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

Claudia Gonzaga-Jauregui, Feng Zhang, Charles F. Towne, Sat Dev Batish, James R. Lupski

Neurogenetics. Author manuscript; available in PMC 2014 Nov 6.

Published in final edited form as: Neurogenetics. 2010 Oct; 11(4): 465–470. Published online 2010 Jun 9. doi: 10.1007/s10048-010-0247-4

PMCID:: PMC4222676

Abstract Article PDF–358K

Select item 379269116.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

Melody Caramins, James G. Colebatch, Matthew N. Bainbridge, Steven S. Scherer, Charles K. Abrams, Emma L. Hackett, Mona M. Freidin, Shalini N. Jhangiani, Min Wang, Yuanqing Wu, Donna M. Muzny, Robert Lindeman, Richard A. Gibbs

Hum Mol Genet. 2013 Nov 1; 22(21): 4329–4338. Published online 2013 Jun 16. doi: 10.1093/hmg/ddt282