PMC Articles for MedGen (Select 1779850) - PMC

Select item 55861491.

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 28333942.

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

Select item 69949533.

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 42148644.

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 75014065.

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 99769826.

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

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