Gonzalez MA - Search Results

1

TYROBP genetic variants in early-onset Alzheimer's disease.

Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, Guerreiro R, Bras JT, Zuchner S, Gonzalez MA, Bu G, Younkin S, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. Pottier C, et al. Among authors: gonzalez ma. Neurobiol Aging. 2016 Dec;48:222.e9-222.e15. doi: 10.1016/j.neurobiolaging.2016.07.028. Epub 2016 Aug 8. Neurobiol Aging. 2016. PMID: 27658901 Free PMC article.

2

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S; Inherited Neuropathy Consortium. Gonzalez M, et al. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. doi: 10.1136/jnnp-2013-305049. Epub 2013 Jun 1. J Neurol Neurosurg Psychiatry. 2013. PMID: 23729695 Free PMC article.

3

A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

Dolzhanskaya N, Gonzalez MA, Sperziani F, Stefl S, Messing J, Wen GY, Alexov E, Zuchner S, Velinov M. Dolzhanskaya N, et al. Among authors: gonzalez ma. J Alzheimers Dis. 2014;39(1):23-7. doi: 10.3233/JAD-131340. J Alzheimers Dis. 2014. PMID: 24121961 Free PMC article.

4

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

Balicza P, Grosz Z, Gonzalez MA, Bencsik R, Pentelenyi K, Gal A, Varga E, Klivenyi P, Koller J, Züchner S, Molnar JM. Balicza P, et al. Among authors: gonzalez ma. J Neurol Sci. 2016 May 15;364:116-21. doi: 10.1016/j.jns.2016.03.018. Epub 2016 Mar 12. J Neurol Sci. 2016. PMID: 27084228

5

Rapid in vivo forward genetic approach for identifying axon death genes in Drosophila.

Neukomm LJ, Burdett TC, Gonzalez MA, Züchner S, Freeman MR. Neukomm LJ, et al. Among authors: gonzalez ma. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9965-70. doi: 10.1073/pnas.1406230111. Epub 2014 Jun 23. Proc Natl Acad Sci U S A. 2014. PMID: 24958874 Free PMC article.

6

Innovative genomic collaboration using the GENESIS (GEM.app) platform.

Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S. Gonzalez M, et al. Hum Mutat. 2015 Oct;36(10):950-6. doi: 10.1002/humu.22836. Epub 2015 Aug 12. Hum Mutat. 2015. PMID: 26173844 Free PMC article.

7

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

Gonzalez M, Nampoothiri S, Kornblum C, Oteyza AC, Walter J, Konidari I, Hulme W, Speziani F, Schöls L, Züchner S, Schüle R. Gonzalez M, et al. Eur J Hum Genet. 2013 Nov;21(11):1214-8. doi: 10.1038/ejhg.2013.29. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486545 Free PMC article.

8

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Tétreault M, et al. Brain. 2015 Jun;138(Pt 6):1477-83. doi: 10.1093/brain/awv074. Epub 2015 Mar 28. Brain. 2015. PMID: 25818867 Free PMC article.

9

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.

Gonzalez MA, Lebrigio RF, Van Booven D, Ulloa RH, Powell E, Speziani F, Tekin M, Schüle R, Züchner S. Gonzalez MA, et al. Hum Mutat. 2013 Jun;34(6):842-6. doi: 10.1002/humu.22305. Epub 2013 Apr 3. Hum Mutat. 2013. PMID: 23463597 Free PMC article.

10

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM. Horga A, et al. Among authors: gonzalez ma. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14. Neurology. 2016. PMID: 27629094 Free PMC article. Review.

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