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Items: 7

1.

Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways.

Sánchez E, Azcona LJ, Paisán-Ruiz C.

Mol Neurobiol. 2018 Jan 17. doi: 10.1007/s12035-017-0846-2. [Epub ahead of print]

PMID:
29344929
2.

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Wang JC, Alinaghi S, Tafakhori A, Sikora E, Azcona LJ, Karkheiran S, Goate A, Paisán-Ruiz C, Darvish H.

Neurobiol Aging. 2018 Feb;62:244.e15-244.e17. doi: 10.1016/j.neurobiolaging.2017.10.011. Epub 2017 Oct 23.

PMID:
29175279
3.

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.

Darvish H, Azcona LJ, Tafakhori A, Ahmadi M, Ahmadifard A, Paisán-Ruiz C.

NPJ Genom Med. 2017;2. pii: 20. doi: 10.1038/s41525-017-0022-7. Epub 2017 Jun 1.

4.

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease.

Ruiz-Martínez J, Azcona LJ, Bergareche A, Martí-Massó JF, Paisán-Ruiz C.

Neurol Genet. 2017 Aug 2;3(5):e177. doi: 10.1212/NXG.0000000000000177. eCollection 2017 Oct.

5.

A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.

Vilas D, Fernández-Santiago R, Sanchez E, Azcona LJ, Santos-Montes M, Casquero P, Argandoña L, Tolosa E, Paisán-Ruiz C.

J Parkinsons Dis. 2017;7(3):459-463. doi: 10.3233/JPD-171146.

PMID:
28671144
6.

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

Taghavi S, Chaouni R, Tafakhori A, Azcona LJ, Firouzabadi SG, Omrani MD, Jamshidi J, Emamalizadeh B, Shahidi GA, Ahmadi M, Habibi SAH, Ahmadifard A, Fazeli A, Motallebi M, Petramfar P, Askarpour S, Askarpour S, Shahmohammadibeni HA, Shahmohammadibeni N, Eftekhari H, Shafiei Zarneh AE, Mohammadihosseinabad S, Khorrami M, Najmi S, Chitsaz A, Shokraeian P, Ehsanbakhsh H, Rezaeidian J, Ebrahimi Rad R, Madadi F, Andarva M, Alehabib E, Atakhorrami M, Mortazavi SE, Azimzadeh Z, Bayat M, Besharati AM, Harati-Ghavi MA, Omidvari S, Dehghani-Tafti Z, Mohammadi F, Mohammad Hossein Pour B, Noorollahi Moghaddam H, Esmaili Shandiz E, Habibi A, Taherian-Esfahani Z, Darvish H, Paisán-Ruiz C.

Mol Neurobiol. 2018 Apr;55(4):3477-3489. doi: 10.1007/s12035-017-0535-1. Epub 2017 May 13.

PMID:
28502045
7.

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

Khodadadi H, Azcona LJ, Aghamollaii V, Omrani MD, Garshasbi M, Taghavi S, Tafakhori A, Shahidi GA, Jamshidi J, Darvish H, Paisán-Ruiz C.

Mov Disord. 2017 Feb;32(2):287-291. doi: 10.1002/mds.26824. Epub 2016 Oct 18.

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