PMC Articles for MedGen (Select 1723540) - PMC

Select item 33972651.

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

Christian Beetz, Thomas R. Pieber, Nicole Hertel, Maria Schabhüttl, Carina Fischer, Slave Trajanoski, Elisabeth Graf, Silke Keiner, Ingo Kurth, Thomas Wieland, Rita-Eva Varga, Vincent Timmerman, Mary M. Reilly, Tim M. Strom, Michaela Auer-Grumbach

Am J Hum Genet. 2012 Jul 13; 91(1): 139–145. doi: 10.1016/j.ajhg.2012.05.007

PMCID:: PMC3397265

Article PDF–588K

Select item 32724032.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

Barbara Rohkamm, Mary M. Reilly, Hanns Lochmüller, Beate Schlotter-Weigel, Nina Barisic, Ludger Schöls, Garth Nicholson, Davide Pareyson, Matilde Laurà, Andreas R. Janecke, Gabriel Miltenberger-Miltenyi, Elisabeth John, Carina Fischer, Franz Grill, William Wakeling, Mary Davis, Thomas R. Pieber, Michaela Auer-Grumbach

J Neurol Sci. Author manuscript; available in PMC 2012 Feb 5.

Published in final edited form as: J Neurol Sci. 2007 Dec 15; 263(1-2): 100–106. Published online 2007 Jul 30. doi: 10.1016/j.jns.2007.06.047

PMCID:: PMC3272403

Article PDF–303K

Select item 74317063.

Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels

James N. Sleigh, Aleksandra M. Mech, Tahmina Aktar, Yuxin Zhang, Giampietro Schiavo

Front Cell Neurosci. 2020; 14: 232. Published online 2020 Aug 11. doi: 10.3389/fncel.2020.00232

PMCID:: PMC7431706

Article PDF–6.1M

Select item 60648234.

A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V

Xueying Yu, Bin Chen, Hefei Tang, Wei Li, Ying Fu, Zaiqiang Zhang, Yaping Yan

Front Neurol. 2018; 9: 571. Published online 2018 Jul 23. doi: 10.3389/fneur.2018.00571

PMCID:: PMC6064823

Article PDF–1.3M

Select item 39194555.

REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues

Carl M. Hurt, Susann Björk, Vincent K. Ho, Ralf Gilsbach, Lutz Hein, Timothy Angelotti

Brain Res. Author manuscript; available in PMC 2015 Jan 30.

Published in final edited form as: Brain Res. 2014 Jan 30; 1545: 12–22. Published online 2013 Dec 16. doi: 10.1016/j.brainres.2013.12.008

PMCID:: PMC3919455

Article PDF–1009K

Select item 82976626.

Rebecca Markovitz, Rajarshi Ghosh, Molly E. Kuo, William Hong, Jaehyung Lim, Saunder Bernes, Stephanie Manberg, Kathleen Crosby, Pranoot Tanpaiboon, Diana Bharucha-Goebel, Carsten Bonnemann, Carrie A. Mohila, Elizabeth Mizerik, Suzanne Woodbury, Weimin Bi, Timothy Lotze, Anthony Antonellis, Rui Xiao, Lorraine Potocki

Am J Med Genet A. Author manuscript; available in PMC 2021 Jul 22.

Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1167–1176. Published online 2020 Mar 17. doi: 10.1002/ajmg.a.61544

PMCID:: PMC8297662

Article PDF–949K

Select item 73872137.

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: report of two novel variants

Maxwell T. Ma, Dong-Hui Chen, Wendy H. Raskind, Thomas D. Bird

Neuromuscul Disord. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: Neuromuscul Disord. 2020 Jul; 30(7): 572–575. Published online 2020 May 23. doi: 10.1016/j.nmd.2020.05.005

PMCID:: PMC7387213

Article PDF–545K

Select item 47294788.

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy

Cheng-Tsung Hsiao, Pei-Chien Tsai, Chou-Ching Lin, Yo-Tsen Liu, Yen-Hua Huang, Yi-Chu Liao, Han-Wei Huang, Kon-Ping Lin, Bing-Wen Soong, Yi-Chung Lee

PLoS One. 2016; 11(1): e0147677. Published online 2016 Jan 27. doi: 10.1371/journal.pone.0147677

PMCID:: PMC4729478

Article PDF–1.7M

Select item 12261079.

Localization of the Gene for Distal Hereditary Motor Neuronopathy VII (dHMN-VII) to Chromosome 2q14

Meriel McEntagart, Nadine Norton, Hywel Williams, M. Dawn Teare, Melanie Dunstan, Philip Baker, Henry Houlden, Mary Reilly, Nick Wood, Peter S. Harper, P. Andrew Futreal, Nigel Williams, Nazneen Rahman

Am J Hum Genet. 2001 May; 68(5): 1270–1276. Published online 2001 Apr 4. doi: 10.1086/320122

PMCID:: PMC1226107

Article PDF–141K

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