PMC Links for Books (Select 1494916) - PMC

Select item 86340681.

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

Diana X Bharucha-Goebel, Gina Norato, Dimah Saade, Eduardo Paredes, Victoria Biancavilla, Sandra Donkervoort, Rupleen Kaur, Tanya Lehky, Margaret Fink, Diane Armao, Steven J Gray, Melissa Waite, Sarah Debs, Gilberto Averion, Ying Hu, Wadih M Zein, A Reghan Foley, Minal Jain, Carsten G Bönnemann

Brain. 2021 Oct; 144(10): 3239–3250. Published online 2021 Jun 11. doi: 10.1093/brain/awab179

PMCID:: PMC8634068

Abstract Article PDF–1.0M

Select item 76429742.

E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy

Léa Lescouzères, Pascale Bomont

Front Physiol. 2020; 11: 1022. Published online 2020 Oct 22. doi: 10.3389/fphys.2020.01022

PMCID:: PMC7642974

Abstract Article PDF–4.9M

Select item 74972893.

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 65242924.

The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders

Alessandro Didonna, Puneet Opal

Mol Neurodegener. 2019; 14: 19. Published online 2019 May 16. doi: 10.1186/s13024-019-0318-4

PMCID:: PMC6524292

Abstract Article PDF–742K

Select item 63777115.

Gigaxonin E3 ligase governs ATG16L1 turnover to control autophagosome production

Aurora Scrivo, Patrice Codogno, Pascale Bomont

Nat Commun. 2019; 10: 780. Published online 2019 Feb 15. doi: 10.1038/s41467-019-08331-w

PMCID:: PMC6377711

Abstract Article PDF–8.1M

Select item 51127256.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

Sharon Aharoni, Katy E. S. Barwick, Rachel Straussberg, Gaurav V. Harlalka, Yoram Nevo, Barry A. Chioza, Meriel M. McEntagart, Aviva Mimouni-Bloch, Michael Weedon, Andrew H. Crosby

BMC Med Genet. 2016; 17: 82. Published online 2016 Nov 16. doi: 10.1186/s12881-016-0343-x

PMCID:: PMC5112725

Abstract Article PDF–1.0M

Select item 50810487.

Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy

Eitan Israeli, Dilyan I. Dryanovski, Paul T. Schumacker, Navdeep S. Chandel, Jeffrey D. Singer, Jean P. Julien, Robert D. Goldman, Puneet Opal

Hum Mol Genet. 2016 Jun 1; 25(11): 2143–2157. Published online 2016 Mar 21. doi: 10.1093/hmg/ddw081

PMCID:: PMC5081048

Abstract Article PDF–1.3M

Select item 45447538.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 42148679.

Stephen G. Kaler

Nat Rev Neurol. Author manuscript; available in PMC 2014 Oct 30.

Published in final edited form as: Nat Rev Neurol. 2011 Jan; 7(1): 15–29. doi: 10.1038/nrneurol.2010.180

PMCID:: PMC4214867

Abstract Article PDF–1.7M

Select item 395975610.

Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons

Christopher J. Klein, Yanhong Wu, Peter Vogel, Hans H. Goebel, Carsten Bönnemann, Kristen Zukosky, Maria-Victoria Botuyan, Xiaohui Duan, Sumit Middha, Elizabeth J. Atkinson, Georges Mer, Peter J. Dyck

Neurology. 2014 Mar 11; 82(10): 873–878. doi: 10.1212/WNL.0000000000000206

PMCID:: PMC3959756

Abstract Article PDF–728K

Select item 392748611.

Explaining intermediate filament accumulation in giant axonal neuropathy

Puneet Opal, Robert D. Goldman

Rare Dis. 2013; 1: e25378. Published online 2013 Jun 17. doi: 10.4161/rdis.25378

PMCID:: PMC3927486

Abstract Article PDF–328K

Select item 331379612.

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

Ling Yi, Anthony Donsante, Marina L. Kennerson, Julian F.B. Mercer, James Y. Garbern, Stephen G. Kaler

Hum Mol Genet. 2012 Apr 15; 21(8): 1794–1807. Published online 2011 Dec 30. doi: 10.1093/hmg/ddr612

PMCID:: PMC3313796

Abstract Article PDF–660K

Select item 294744313.

3T MR With Diffusion Tensor Imaging and Single-Voxel Spectroscopy in Giant Axonal Neuropathy

Christiana Brenner, Carlos Eduardo Speck-Martins, Luciano Farage, Peter B. Barker

J Magn Reson Imaging. Author manuscript; available in PMC 2010 Sep 29.

Published in final edited form as: J Magn Reson Imaging. 2008 Jul; 28(1): 236–241. doi: 10.1002/jmri.21425

PMCID:: PMC2947443

Abstract Article PDF–483K

Select item 283339414.

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Marina L. Kennerson, Garth A. Nicholson, Stephen G. Kaler, Bartosz Kowalski, Julian F.B. Mercer, Jingrong Tang, Roxana M. Llanos, Shannon Chu, Reinaldo I. Takata, Carlos E. Speck-Martins, Jonathan Baets, Leonardo Almeida-Souza, Dirk Fischer, Vincent Timmerman, Philip E. Taylor, Steven S. Scherer, Toby A. Ferguson, Thomas D. Bird, Peter De Jonghe, Shawna M.E. Feely, Michael E. Shy, James Y. Garbern

Am J Hum Genet. 2010 Mar 12; 86(3): 343–352. doi: 10.1016/j.ajhg.2010.01.027