PMC Articles for MedGen (Select 324487) - PMC

Select item 87584601.

Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening

Sho Aoki, Kazuaki Nagashima, Makoto Shibata, Hiroo Kasahara, Yukio Fujita, Akihiro Hashiguchi, Hiroshi Takashima, Yoshio Ikeda

Intern Med. 2021 Dec 15; 60(24): 3975–3981. Published online 2021 Jun 19. doi: 10.2169/internalmedicine.7247-21

PMCID:: PMC8758460

Abstract Article PDF–1.8M

Select item 26775382.

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H

Henry Houlden, Simon Hammans, Haider Katifi, Mary M. Reilly

Neurology. 2009 Feb 17; 72(7): 617–620. doi: 10.1212/01.wnl.0000342463.35089.cc

PMCID:: PMC2677538

Abstract Article PDF–934K

Select item 35250533.

Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

Michael Horn, Reto Baumann, Jorge A. Pereira, Páris N. M. Sidiropoulos, Christian Somandin, Hans Welzl, Claudia Stendel, Tessa Lühmann, Carsten Wessig, Klaus V. Toyka, João B. Relvas, Jan Senderek, Ueli Suter

Brain. 2012 Dec; 135(12): 3567–3583. Published online 2012 Nov 20. doi: 10.1093/brain/aws275

PMCID:: PMC3525053

Abstract Article PDF–1.9M

Select item 101511914.

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H

Lara El-Bazzal, Adeline Ghata, Clothilde Estève, Jihane Gadacha, Patrice Quintana, Christel Castro, Nathalie Roeckel-Trévisiol, Frédérique Lembo, Nicolas Lenfant, André Mégarbané, Jean-Paul Borg, Nicolas Lévy, Marc Bartoli, Yannick Poitelon, Pierre L Roubertoux, Valérie Delague, Nathalie Bernard-Marissal

Brain. 2023 May; 146(5): 1844–1858. Published online 2022 Oct 31. doi: 10.1093/brain/awac402

PMCID:: PMC10151191

Abstract Article PDF–1000K

Select item 19509145.

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cécile Baudot, Irène Boccaccio, Eliane Chouery, Malika Chaouch, Nora Kassouri, Rosette Jabbour, Djamel Grid, André Mégarbané, Georg Haase, Nicolas Lévy

Am J Hum Genet. 2007 Jul; 81(1): 1–16. Published online 2007 May 15. doi: 10.1086/518428

PMCID:: PMC1950914

Abstract Article PDF–1.1M

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