PMC Links for Books (Select 1480304) - PMC

Select item 49986801.

Rehabilitation Management of the Charcot–Marie–Tooth Syndrome: A Systematic Review of the Literature

Bruno Corrado, Gianluca Ciardi, Chiara Bargigli

Medicine (Baltimore) 2016 Apr; 95(17): e3278. Published online 2016 Apr 29. doi: 10.1097/MD.0000000000003278

PMCID:: PMC4998680

Select item 49170052.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

Magdalena Zimoń, Esra Battaloǧlu, Yesim Parman, Sevim Erdem, Jonathan Baets, Els De Vriendt, Derek Atkinson, Leonardo Almeida-Souza, Tine Deconinck, Burcak Ozes, Dirk Goossens, Sebahattin Cirak, Philip Van Damme, Mohammad Shboul, Thomas Voit, Lionel Van Maldergem, Bernard Dan, Mohammed S. El-Khateeb, Velina Guergueltcheva, Eduardo Lopez-Laso, Nathalie Goemans, Amira Masri, Stephan Züchner, Vincent Timmerman, Haluk Topaloǧlu, Peter De Jonghe, Albena Jordanova

Neurogenetics. Author manuscript; available in PMC 2016 Jun 22.

Published in final edited form as: Neurogenetics. 2015 Jan; 16(1): 33–42. Published online 2014 Sep 18. doi: 10.1007/s10048-014-0422-0

PMCID:: PMC4917005

Article PDF–450K

Select item 47256903.

Management of Charcot–Marie–Tooth disease: improving long-term care with a multidisciplinary approach

Donald McCorquodale, Evan M Pucillo, Nicholas E Johnson

J Multidiscip Healthc. 2016; 9: 7–19. Published online 2016 Jan 19. doi: 10.2147/JMDH.S69979

PMCID:: PMC4725690

Article PDF–349K

Select item 40347074.

Charcot–Marie–Tooth disease, psychiatric indicators and quality of life: a systematic review

Joana L.C. Cordeiro, Wilson Marques, Jr, Jaime E.C. Hallak, Flávia L. Osório

ASN Neuro. 2014; 6(3): e00145. Prepublished online 2014 Mar 24. Published online 2014 May 27. doi: 10.1042/AN20130048

PMCID:: PMC4034707

Article PDF–224K

Select item 38901585.

Hip Dysplasia Is More Severe in Charcot-Marie-Tooth Disease Than in Developmental Dysplasia of the Hip

Eduardo N. Novais, Sara D. Bixby, John Rennick, Patrick M. Carry, Young-Jo Kim, Michael B. Millis

Clin Orthop Relat Res. 2014 Feb; 472(2): 665–673. Published online 2013 Aug 14. doi: 10.1007/s11999-013-3127-z

PMCID:: PMC3890158

Article PDF–445K

Select item 38365466.

Neuropathic pain in hereditary peripheral neuropathy

Na Young Jeong, Youn Ho Shin, Junyang Jung

J Exerc Rehabil. 2013 Aug; 9(4): 397–399. Published online 2013 Aug 31. doi: 10.12965/jer.130057

PMCID:: PMC3836546

Article PDF–136K

Select item 32723947.

Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

M. Auer-Grumbach, C. Fischer, L. Papić, E. John, B. Plecko, R. E. Bittner, G. Bernert, T. R. Pieber, G. Miltenberger, R. Schwarz, C. Windpassinger, F. Grill, V. Timmerman, M. R. Speicher, A. R. Janecke

Neuropediatrics. Author manuscript; available in PMC 2012 Feb 5.

Published in final edited form as: Neuropediatrics. 2008 Feb; 39(1): 33–38. doi: 10.1055/s-2008-1077085

PMCID:: PMC3272394

Article PDF–379K

Select item 32723858.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

M. Zimoń, J. Baets, G.M. Fabrizi, E. Jaakkola, D. Kabzińska, J. Pilch, A.B. Schindler, D.R. Cornblath, K.H. Fischbeck, M. Auer-Grumbach, C. Guelly, N. Huber, E. De Vriendt, V. Timmerman, U. Suter, I. Hausmanowa-Petrusewicz, A. Niemann, A. Kochański, P. De Jonghe, A. Jordanova

Neurology. Author manuscript; available in PMC 2012 Feb 5.

Published in final edited form as: Neurology. 2011 Aug 9; 77(6): 540–548. Published online 2011 Jul 13. doi: 10.1212/WNL.0b013e318228fc70

PMCID:: PMC3272385

Article PDF–1020K

Select item 21715179.

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

Axel Niemann, Marcel Ruegg, Veronica La Padula, Angelo Schenone, Ueli Suter

J Cell Biol. 2005 Sep 26; 170(7): 1067–1078. doi: 10.1083/jcb.200507087

PMCID:: PMC2171517

Article PDF–4.1M

Select item 173603010.

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

R Claramunt, L Pedrola, T Sevilla, d Lopez, J Berciano, A Cuesta, B Sanchez-Navarro, J Millan, G Saifi, J Lupski, J Vilchez, C Espinos, F Palau

J Med Genet. 2005 Apr; 42(4): 358–365. doi: 10.1136/jmg.2004.022178

PMCID:: PMC1736030

Summary PDF–161K

Select item 173551111.

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

A De Sandre-Giovann..., M Chaouch, I Boccaccio, R Bernard, V Delague, D Grid, J Vallat, N Levy, A Megarbane

J Med Genet. 2003 Jul; 40(7): e87. doi: 10.1136/jmg.40.7.e87

PMCID:: PMC1735511

Summary PDF–608K

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