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Year | Number of Results |
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2014 | 3 |
2015 | 2 |
2016 | 2 |
2024 | 0 |
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Page 1
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14.
Brain. 2014.
PMID: 25125609
Free PMC article.
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS.
Motley WW, et al. Among authors: strickland av.
Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23.
Brain. 2016.
PMID: 27009151
Free PMC article.
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Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M.
Strickland AV, et al.
J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24.
J Neurol. 2015.
PMID: 26100331
Free PMC article.
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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.
Abrams AJ, et al. Among authors: strickland av.
Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.
Nat Genet. 2015.
PMID: 26168012
Free PMC article.
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Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.
Strickland AV, Rebelo AP, Zhang F, Price J, Bolon B, Silva JP, Wen R, Züchner S.
Strickland AV, et al.
J Peripher Nerv Syst. 2014 Jun;19(2):152-64. doi: 10.1111/jns5.12066.
J Peripher Nerv Syst. 2014.
PMID: 24862862
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Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V, Strickland AV, Züchner S.
Timmerman V, et al. Among authors: strickland av.
Genes (Basel). 2014 Jan 22;5(1):13-32. doi: 10.3390/genes5010013.
Genes (Basel). 2014.
PMID: 24705285
Free PMC article.
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Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML.
Perez-Siles G, et al. Among authors: strickland av.
Metallomics. 2016 Sep 1;8(9):981-92. doi: 10.1039/c6mt00082g. Epub 2016 Jun 13.
Metallomics. 2016.
PMID: 27293072
Free PMC article.
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