PMC Links for Books (Select 1485084) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 66315982.

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

Humberto Skott, Cristina Muntean-Firanescu, Kristin Samuelsson, Luca Verrecchia, Per Svenningsson, Helena Malmgren, Carmen Cananau, Alberto J. Espay, Rayomand Press, Göran Solders, Martin Paucar

Cerebellum Ataxias. 2019; 6: 9. Published online 2019 Jul 15. doi: 10.1186/s40673-019-0103-8

PMCID:: PMC6631598

Abstract Article PDF–1.3M

Select item 63120413.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Melissa R Mandarakas, Manoj P Menezes, Kristy J Rose, Rosemary Shy, Kate Eichinger, Maria Foscan, Timothy Estilow, Rachel Kennedy, Karen Herbert, Paula Bray, Kathryn Refshauge, Monique M Ryan, Eppie M Yiu, Michelle Farrar, Hugo Sampaio, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Sabrina W Yum, David N Herrmann, Gyula Acsadi, Michael E Shy, Joshua Burns, Oranee Sanmaneechai

Brain. 2018 Dec; 141(12): 3319–3330. Published online 2018 Nov 22. doi: 10.1093/brain/awy280

Correction in:: Brain. 2019 Apr; 142(4): e14.

PMCID:: PMC6312041

Abstract Article PDF–857K

Select item 55929644.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)

Giuseppe Piscosquito, Paola Saveri, Stefania Magri, Claudia Ciano, Claudia Gandioli, Michela Morbin, Daniela D. Bella, Isabella Moroni, Franco Taroni F, Davide Pareyson

J Peripher Nerv Syst. Author manuscript; available in PMC 2017 Sep 11.

Published in final edited form as: J Peripher Nerv Syst. 2016 Sep; 21(3): 142–149. doi: 10.1111/jns.12175

PMCID:: PMC5592964

Abstract Article PDF–95K

Select item 43032225.

The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

Christina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, Izabela Karbassi, Jeremiah R Jones, Matthew C Evans, Corey D Braastad, Crystal M Bishop, Malgorzata Jaremko, Zhenyuan Wang, Khalida Liaquat, Carol A Hoffman, Michelle D York, Sat D Batish, James R Lupski, Joseph J Higgins

Mol Genet Genomic Med. 2014 Nov; 2(6): 522–529. Published online 2014 Aug 21. doi: 10.1002/mgg3.106

PMCID:: PMC4303222

Abstract Article PDF–443K

Select item 33351896.

Validation of the CMT Pediatric Scale as an outcome measure of disability

Joshua Burns, Robert Ouvrier, Tim Estilow, Rosemary Shy, Matilde Laurá, Julie F. Pallant, Monkol Lek, Francesco Muntoni, Mary M. Reilly, Davide Pareyson, Gyula Acsadi, Michael E. Shy, Richard S. Finkel

Ann Neurol. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Ann Neurol. 2012 May; 71(5): 642–652. doi: 10.1002/ana.23572

PMCID:: PMC3335189

Abstract Article PDF–452K

Select item 32960157.

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

Carina Fischer, Slave Trajanoski, Lea Papić, Christian Windpassinger, Günther Bernert, Michael Freilinger, Maria Schabhüttl, Mine Arslan-Kirchner, Poupak Javaher-Haghighi, Barbara Plecko, Jan Senderek, Christian Rauscher, Wolfgang N. Löscher, Thomas R. Pieber, Andreas R. Janecke, Michaela Auer-Grumbach

J Neurol. 2012; 259(3): 515–523. Published online 2011 Sep 4. doi: 10.1007/s00415-011-6213-8

PMCID:: PMC3296015

Abstract Article PDF–593K

Select item 31705338.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Jonathan Baets, Tine Deconinck, Els De Vriendt, Magdalena Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yesim Parman, Berten Ceulemans, Patrick Van Bogaert, Adolf Pou-Serradell, Günther Bernert, Argirios Dinopoulos, Michaela Auer-Grumbach, Satu-Leena Sallinen, Gian Maria Fabrizi, Fernand Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloglu, Ricardo E. Madrid, Dagmara Kabzińska, Andrzej Kochanski, Haluk Topaloglu, Geoffrey Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe

Brain. 2011 Sep; 134(9): 2664–2676. Published online 2011 Aug 11. doi: 10.1093/brain/awr184

PMCID:: PMC3170533

Abstract Article PDF–353K

Select item 28308269.

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C

Rhys C. Roberts, Andrew A. Peden, Folma Buss, Nicholas A. Bright, Morwena Latouche, Mary M. Reilly, John Kendrick-Jones, J. Paul Luzio

Hum Mol Genet. 2010 Mar 15; 19(6): 1009–1018. Published online 2009 Dec 22. doi: 10.1093/hmg/ddp565

PMCID:: PMC2830826

Abstract Article PDF–526K

Select item 173634810.

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33

A. Gabreels-Festen, S. van Beersum, L. Eshuis, E. LeGuern, F. Gabreels, B. van Engelen, E. Mariman

J Neurol Neurosurg Psychiatry. 1999 May; 66(5): 569–574. doi: 10.1136/jnnp.66.5.569

PMCID:: PMC1736348

Summary PDF–124K

Select item 173596911.

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

R Gooding, J Colomer, R King, D Angelicheva, L Marns, Y Parman, D Chandler, J Bertranpetit, L Kalaydjieva

J Med Genet. 2005 Dec; 42(12): e69. doi: 10.1136/jmg.2005.034132

PMCID:: PMC1735969

Summary PDF–529K

Select item 118049012.

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek, Carsten Bergmann, Claudia Stendel, Jutta Kirfel, Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman, Roman Chrast, Mark H. G. Verheijen, Greg Lemke, Esra Battaloglu, Yesim Parman, Sevim Erdem, Ersin Tan, Haluk Topaloglu, Andreas Hahn, Wolfgang Müller-Felber, Nicolò Rizzuto, Gian Maria Fabrizi, Manfred Stuhrmann, Sabine Rudnik-Schöneborn, Stephan Züchner, J. Michael Schröder, Eckhard Buchheim, Volker Straub, Jörg Klepper, Kathrin Huehne, Bernd Rautenstrauss, Reinhard Büttner, Eva Nelis, Klaus Zerres

Am J Hum Genet. 2003 Nov; 73(5): 1106–1119. Published online 2003 Oct 21. doi: 10.1086/379525

PMCID:: PMC1180490

Abstract Article PDF–825K

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