Paisàn-Ruìz C - Search Results

1

Familial Parkinson's disease: clinical and genetic analysis of four Basque families.

Paisàn-Ruìz C, Sàenz A, Lòpez de Munain A, Martì I, Martìnez Gil A, Martì-Massò JF, Pèrez-Tur J. Paisàn-Ruìz C, et al. Ann Neurol. 2005 Mar;57(3):365-72. doi: 10.1002/ana.20391. Ann Neurol. 2005. PMID: 15732106

2

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Martí Carrera I, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB. Paisán-Ruíz C, et al. Neuron. 2004 Nov 18;44(4):595-600. doi: 10.1016/j.neuron.2004.10.023. Neuron. 2004. PMID: 15541308 Free article.

3

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.

Simón-Sánchez J, Martí-Massó JF, Sánchez-Mut JV, Paisán-Ruiz C, Martínez-Gil A, Ruiz-Martínez J, Sáenz A, Singleton AB, López de Munain A, Pérez-Tur J. Simón-Sánchez J, et al. Mov Disord. 2006 Nov;21(11):1954-9. doi: 10.1002/mds.21114. Mov Disord. 2006. PMID: 16991141

4

Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease.

Blázquez L, Otaegui D, Sáenz A, Paisán-Ruiz C, Emparanza JI, Ruiz-Martinez J, Moreno F, Martí-Massó JF, López de Munain A. Blázquez L, et al. Neurosci Lett. 2006 Oct 9;406(3):235-9. doi: 10.1016/j.neulet.2006.07.037. Epub 2006 Aug 14. Neurosci Lett. 2006. PMID: 16904828

5

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. Ruiz-Martínez J, et al. Neurol Genet. 2017 Aug 2;3(5):e177. doi: 10.1212/NXG.0000000000000177. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28808687 Free PMC article.

6

The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: clinical and demographic characteristics.

Gatto EM, Parisi V, Converso DP, Poderoso JJ, Carreras MC, Martí-Massó JF, Paisán-Ruiz C. Gatto EM, et al. Neurosci Lett. 2013 Mar 14;537:1-5. doi: 10.1016/j.neulet.2013.01.011. Epub 2013 Jan 20. Neurosci Lett. 2013. PMID: 23340200

7

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. Hernandez DG, et al. Ann Neurol. 2005 Mar;57(3):453-6. doi: 10.1002/ana.20401. Ann Neurol. 2005. PMID: 15732108

8

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

Marti-Masso JF, Ruiz-Martínez J, Makarov V, López de Munain A, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD, Paisán-Ruiz C. Marti-Masso JF, et al. Hum Genet. 2012 Mar;131(3):435-42. doi: 10.1007/s00439-011-1086-6. Epub 2011 Sep 13. Hum Genet. 2012. PMID: 21912879

9

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.

Martí-Massó JF, Bergareche A, Makarov V, Ruiz-Martinez J, Gorostidi A, López de Munain A, Poza JJ, Striano P, Buxbaum JD, Paisán-Ruiz C. Martí-Massó JF, et al. J Mol Med (Berl). 2013 Dec;91(12):1399-406. doi: 10.1007/s00109-013-1075-4. Epub 2013 Aug 20. J Mol Med (Berl). 2013. PMID: 23955123 Free PMC article.

10

LRRK2 gene in Parkinson disease: mutation analysis and case control association study.

Paisán-Ruíz C, Lang AE, Kawarai T, Sato C, Salehi-Rad S, Fisman GK, Al-Khairallah T, St George-Hyslop P, Singleton A, Rogaeva E. Paisán-Ruíz C, et al. Neurology. 2005 Sep 13;65(5):696-700. doi: 10.1212/01.wnl.0000167552.79769.b3. Neurology. 2005. PMID: 16157901

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