PMC Articles for MedGen (Select 155486) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 143

<< First< Prev

Page of 8

Select item 64916361.

A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms

Si Luo, Hui Jin, Jiajun Chen, Lei Zhang

Front Neurol. 2019; 10: 413. Published online 2019 Apr 24. doi: 10.3389/fneur.2019.00413

PMCID:: PMC6491636

Abstract Article PDF–1.5M

Select item 82688132.

Therapeutic Development in Charcot Marie Tooth Type 1 Disease

Pierre Miniou, Michel Fontes

Int J Mol Sci. 2021 Jul; 22(13): 6755. Published online 2021 Jun 23. doi: 10.3390/ijms22136755

PMCID:: PMC8268813

Abstract Article PDF–262K

Select item 90136643.

AAV1.NT-3 gene therapy for X-linked Charcot–Marie–Tooth neuropathy type 1

Burcak Ozes, Morgan Myers, Kyle Moss, Jennifer Mckinney, Alicia Ridgley, Lei Chen, Shasha Bai, Charles K. Abrams, Mona M. Freidin, Jerry R. Mendell, Zarife Sahenk

Gene Ther. 2022; 29(3-4): 127–137. Published online 2021 Feb 4. doi: 10.1038/s41434-021-00231-3

PMCID:: PMC9013664

Abstract Article PDF–2.6M

Select item 38201964.

Electrophysiological Evaluation of Chronic Inflammatory Demyelinating Polyneuropathy and Charcot-Marie-Tooth Type 1: Dispersion and Correlation Analysis

Ji Hyuk Kang, Hye Jeong Kim, Eun Ryeong Lee

J Phys Ther Sci. 2013 Oct; 25(10): 1265–1268. Published online 2013 Nov 20. doi: 10.1589/jpts.25.1265

PMCID:: PMC3820196

Abstract Article PDF–476K

Select item 41663365.

A Case of Cauda Equina Syndrome in Early-Onset Chronic Inflammatory Demyelinating Polyneuropathy Clinically Similar to Charcot-Marie-Tooth Disease Type 1

Seung Eun Lee, Seung Won Park, Sam Yeol Ha, Taek Kyun Nam

J Korean Neurosurg Soc. 2014 Jun; 55(6): 370–374. Published online 2014 Jun 30. doi: 10.3340/jkns.2014.55.6.370

PMCID:: PMC4166336

Abstract Article PDF–2.1M

Select item 17393646.

Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I

J Kalkman, M Schillings, S P van der Werf, G Padberg, M Zwarts, B G M van Engelen, G Bleijenberg

J Neurol Neurosurg Psychiatry. 2005 Oct; 76(10): 1406–1409. doi: 10.1136/jnnp.2004.050005

PMCID:: PMC1739364

Summary PDF–65K

Select item 17372997.

Disability and quality of life in Charcot-Marie-Tooth disease type 1

G Pfeiffer, E Wicklein, T Ratusinski, L Schmitt, K Kunze

J Neurol Neurosurg Psychiatry. 2001 Apr; 70(4): 548–550. doi: 10.1136/jnnp.70.4.548

PMCID:: PMC1737299

Summary PDF–120K

Select item 17153008.

Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2).

V Ionasescu, R Anderson, T L Burns, C Searby, R Ionasescu, R Ferrell

Am J Hum Genet. 1988 Jan; 42(1): 74–76.

PMCID:: PMC1715300

Summary Page Browse PDF–304K

Select item 16838099.

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

V Timmerman, P Raeymaekers, P De Jonghe, G De Winter, L Swerts, K Jacobs, J Gheuens, J J Martin, A Vandenberghe, C Van Broeckhoven

Am J Hum Genet. 1990 Oct; 47(4): 680–685.

PMCID:: PMC1683809

Summary Page Browse PDF–775K

Select item 992237710.

The Impact of a Late Diagnosis: A Case of Charcot-Marie-Tooth Type 1

Fernando Albuquerque, Deolinda Cunha, Ana C Rodrigues, Rita Nunes, Filipe G Fernandes, Teresa Pipa, Ana Marques, Carla Moreira

Cureus. 2023 Jan; 15(1): e33727. Published online 2023 Jan 12. doi: 10.7759/cureus.33727

PMCID:: PMC9922377

Abstract Article PDF–254K

Select item 168347111.

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

P Raeymaekers, V Timmerman, P De Jonghe, L Swerts, J Gheuens, J J Martin, L Muylle, G De Winter, A Vandenberghe, C Van Broeckhoven

Am J Hum Genet. 1989 Dec; 45(6): 953–958.

PMCID:: PMC1683471

Summary Page Browse PDF–739K

Select item 743388612.

PCH-2 collaborates with CMT-1 to proofread meiotic homolog interactions

Stefani Giacopazzi, Daniel Vong, Alice Devigne, Needhi Bhalla

PLoS Genet. 2020 Jul; 16(7): e1008904. Published online 2020 Jul 30. doi: 10.1371/journal.pgen.1008904

PMCID:: PMC7433886

Abstract Article PDF–3.6M

Select item 105137013.

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

E Nelis, P De Jonghe, E De Vriendt, P I Patel, J J Martin, C Van Broeckhoven

J Med Genet. 1998 Jul; 35(7): 590–593. doi: 10.1136/jmg.35.7.590

PMCID:: PMC1051370

Summary Page Browse PDF–585K

Select item 1054552414.

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

Menelaos Pipis, Seongsik Won, Roy Poh, Stephanie Efthymiou, James M Polke, Mariola Skorupinska, Julian Blake, Alexander M Rossor, John J Moran, Pinki Munot, Francesco Muntoni, Matilde Laura, John Svaren, Mary M Reilly

Brain. 2023 Oct; 146(10): 4025–4032. Published online 2023 Jun 20. doi: 10.1093/brain/awad203

PMCID:: PMC10545524

Abstract Article PDF–698K

Select item 542117415.

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 1128467416.

Draft genome sequence of Agrobacterium pusense strain CMT1: A promising growth-promoting bacterium isolated from nodules of soybean (Glycine max L. Merrill) crops for the One Health approach in Paraguay

Antonio Samudio Oggero, Magalí Valdez Borda, Carmen María Félix Pablos, Gladis Leguizamón, Fernando Mathías Morínigo, Víctor González Caballero, Ariel Farías, Héctor Nakayama, Sergio de los Santos Villalobos

Curr Res Microb Sci. 2024; 7: 100259. Published online 2024 Jul 2. doi: 10.1016/j.crmicr.2024.100259