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Select item 33137961.

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 44289822.

X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron

Victoria L. Hodgkinson, Jeffery M. Dale, Michael L. Garcia, Gary A. Weisman, Jaekwon Lee, Jonathan D. Gitlin, Michael J. Petris

J Pathol. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: J Pathol. 2015 Jun; 236(2): 241–250. Published online 2015 Mar 3. doi: 10.1002/path.4511

PMCID:: PMC4428982

Abstract Article PDF–2.7M

Select item 43838583.

Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking

Ling Yi, Stephen G. Kaler

Hum Mol Genet. 2015 May 1; 24(9): 2411–2425. Published online 2015 Jan 7. doi: 10.1093/hmg/ddv002

PMCID:: PMC4383858

Abstract Article PDF–1.3M

Select item 42148674.

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 42148645.

Inborn errors of copper metabolism

STEPHEN G. KALER

Handb Clin Neurol. Author manuscript; available in PMC 2014 Oct 30.

Published in final edited form as: Handb Clin Neurol. 2013; 113: 1745–1754. doi: 10.1016/B978-0-444-59565-2.00045-9

PMCID:: PMC4214864

Abstract Article PDF–574K

Select item 30992486.

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease

V Desai, A Donsante, KJ Swoboda, M Martensen, J Thompson, SG Kaler

Clin Genet. Author manuscript; available in PMC 2011 May 22.

Published in final edited form as: Clin Genet. 2011 Feb; 79(2): 176–182. doi: 10.1111/j.1399-0004.2010.01451.x

PMCID:: PMC3099248

Abstract Article PDF–694K

Select item 34167707.

Conditional Knockout of the Menkes Disease Copper Transporter Demonstrates Its Critical Role in Embryogenesis

Yanfang Wang, Sha Zhu, Gary A. Weisman, Jonathan D. Gitlin, Michael J. Petris

PLoS One. 2012; 7(8): e43039. Published online 2012 Aug 10. doi: 10.1371/journal.pone.0043039

PMCID:: PMC3416770

Abstract Article PDF–1.2M

Select item 87782798.

HfAlO_x/Al₂O₃ Bilayer Dielectrics for a Field Effect Transistor on a Hydrogen-Terminated Diamond

Minghui Zhang, Fang Lin, Wei Wang, Feng Wen, Genqiang Chen, Shi He, Yanfeng Wang, Shuwei Fan, Renan Bu, Hongxing Wang

Materials (Basel) 2022 Jan; 15(2): 446. Published online 2022 Jan 7. doi: 10.3390/ma15020446

PMCID:: PMC8778279

Abstract Article PDF–1.8M

Select item 79591399.

Burning Behaviour of Rigid Polyurethane Foams with Histidine and Modified Graphene Oxide

Kamila Sałasińska, Milena Leszczyńska, Maciej Celiński, Paweł Kozikowski, Krystian Kowiorski, Ludwika Lipińska

Materials (Basel) 2021 Mar; 14(5): 1184. Published online 2021 Mar 3. doi: 10.3390/ma14051184

Correction in:: Materials (Basel). 2022 Feb; 15(3): 1011.

PMCID:: PMC7959139

Abstract Article PDF–6.1M

Select item 750140610.

ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

Aditi Mhaske, K.V. Dileep, Mukesh Kumar, Mukta Poojary, Kavita Pandhare, Kam Y.J. Zhang, Vinod Scaria, B.K. Binukumar

Comput Struct Biotechnol J. 2020; 18: 2347–2356. Published online 2020 Sep 2. doi: 10.1016/j.csbj.2020.08.021

PMCID:: PMC7501406

Abstract Article PDF–2.1M

Select item 997698211.

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases

Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, Stefano C Previtali

Brain. 2023 Mar; 146(3): 806–822. Published online 2022 Nov 29. doi: 10.1093/brain/awac452

PMCID:: PMC9976982

Abstract Article PDF–816K

Select item 884275712.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Abstract Article PDF–779K

Select item 810416713.

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

Jingwei Liu, Kelai Wang, Baomin Li, Xiaofan Yang

Mol Genet Genomic Med. 2021 Mar; 9(3): e1606. Published online 2021 Jan 29. doi: 10.1002/mgg3.1606

PMCID:: PMC8104167

Abstract Article PDF–1.3M

Select item 777340414.

Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy

Anna Pluciennik, Yuhong Liu, Elana Molotsky, Gregory B. Marsh, Bedri Ranxhi, Frederick J. Arnold, Sophie St.-Cyr, Beverly Davidson, Naemeh Pourshafie, Andrew P. Lieberman, Wei Gu, Sokol V. Todi, Diane E. Merry

J Clin Invest. 2021 Jan 4; 131(1): e134565. Published online 2021 Jan 4. doi: 10.1172/JCI134565

PMCID:: PMC7773404

Abstract Article PDF–15M

Select item 699495315.

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson

Dis Model Mech. 2020 Feb 1; 13(2): dmm041541. Published online 2020 Jan 13. doi: 10.1242/dmm.041541

PMCID:: PMC6994953

Abstract Article

Select item 601445616.

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

Anthony N. Cutrupi, Megan H. Brewer, Garth A. Nicholson, Marina L. Kennerson

Mol Genet Genomic Med. 2018 May; 6(3): 422–433. Published online 2018 Mar 23. doi: 10.1002/mgg3.390

PMCID:: PMC6014456

Abstract Article PDF–1.6M

Select item 558614917.

Characterizing the molecular phenotype of an Atp7a^T985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)

Gonzalo Perez-Siles, Adrienne Grant, Melina Ellis, Carolyn Ly, Aditi Kidambi, Mamdouh Khalil, Roxana M. Llanos, Sharon La Fontaine, Alleene V. Strickland, Stephan Züchner, Sandra Bermeo, Elysia Neist, Tara C. Brennan-Speranza, Reinaldo I. Takata, Carlos E. Speck-Martins, Julian F.B. Mercer, Garth A. Nicholson, Marina L. Kennerson

Metallomics. Author manuscript; available in PMC 2017 Sep 6.

Published in final edited form as: Metallomics. 2016 Sep 1; 8(9): 981–992. Published online 2016 Jun 13. doi: 10.1039/c6mt00082g

PMCID:: PMC5586149

Abstract Article PDF–2.8M

Select item 480136418.

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

Manu Jokela, Sanna Huovinen, Olayinka Raheem, Mikaela Lindfors, Johanna Palmio, Sini Penttilä, Bjarne Udd

PLoS One. 2016; 11(3): e0151376. Published online 2016 Mar 21. doi: 10.1371/journal.pone.0151376

PMCID:: PMC4801364

Abstract Article PDF–11M

Select item 401572719.

Androgen receptors in muscle fibers induce rapid loss of force but not mass: Implications for spinal bulbar muscular atrophy

Kentaro Oki, Robert W. Wiseman, S. Marc Breedlove, Cynthia L. Jordan

Muscle Nerve. Author manuscript; available in PMC 2014 May 9.

Published in final edited form as: Muscle Nerve. 2013 Jun; 47(6): 823–834. Published online 2013 Apr 30. doi: 10.1002/mus.23813

PMCID:: PMC4015727

Abstract Article PDF–1.0M

Select item 283339420.

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

PMCID:: PMC2833394

Abstract Article PDF–1.3M

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