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Items: 1 to 50 of 73

1.

Molecular characterization of PRKN structural variations identified through whole-genome sequencing.

Bravo P, Darvish H, Tafakhori A, Azcona LJ, Johari AH, Jamali F, Paisán-Ruiz C.

Mol Genet Genomic Med. 2018 Oct 16. doi: 10.1002/mgg3.482. [Epub ahead of print]

2.

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 Aug;55(8):6734-6754. doi: 10.1007/s12035-017-0846-2. Epub 2018 Jan 17.

PMID:
29344929
3.

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
4.

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.

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.

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

6.

Support for "Disease-Only" Genotypes and Excess of Homozygosity at the CYTH4 Primate-Specific GTTT-Repeat in Schizophrenia.

Khademi E, Alehabib E, Shandiz EE, Ahmadifard A, Andarva M, Jamshidi J, Rahimi-Aliabadi S, Pouriran R, Nejad FR, Mansoori N, Shahmohammadibeni N, Taghavi S, Shokraeian P, Akhavan-Niaki H, Paisán-Ruiz C, Darvish H, Ohadi M.

Genet Test Mol Biomarkers. 2017 Aug;21(8):485-490. doi: 10.1089/gtmb.2016.0422. Epub 2017 Jul 19.

PMID:
28723299
7.

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
8.

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
9.

A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome.

Nirenberg MJ, Chaouni R, Biller TM, Gilbert RM, Paisán-Ruiz C.

Clin Genet. 2018 Jan;93(1):164-168. doi: 10.1111/cge.13040. Epub 2017 Jul 10.

PMID:
28436534
10.

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.

11.

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.

Sanchez E, Darvish H, Mesias R, Taghavi S, Firouzabadi SG, Walker RH, Tafakhori A, Paisán-Ruiz C.

Hum Mutat. 2016 Nov;37(11):1180-1189. doi: 10.1002/humu.23055. Epub 2016 Aug 21.

12.

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

Bergareche A, Bednarz M, Sánchez E, Krebs CE, Ruiz-Martinez J, De La Riva P, Makarov V, Gorostidi A, Jurkat-Rott K, Marti-Masso JF, Paisán-Ruiz C.

Hum Mol Genet. 2015 Dec 15;24(24):7111-20. doi: 10.1093/hmg/ddv410. Epub 2015 Oct 1.

13.

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.

Sánchez E, Bergareche A, Krebs CE, Gorostidi A, Makarov V, Ruiz-Martinez J, Chorny A, Lopez de Munain A, Marti-Masso JF, Paisán-Ruiz C.

ASN Neuro. 2015 Aug 21;7(4). pii: 1759091415598290. doi: 10.1177/1759091415598290. Print 2015 Jul-Aug.

14.

PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.

Karkheiran S, Shahidi GA, Walker RH, Paisán-Ruiz C.

Tremor Other Hyperkinet Mov (N Y). 2015 Jul 10;5:317. doi: 10.7916/D84Q7T4W. eCollection 2015.

15.

GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.

Ruiz-Martinez J, Krebs CE, Makarov V, Gorostidi A, Martí-Massó JF, Paisán-Ruiz C.

J Hum Genet. 2015 Oct;60(10):637-40. doi: 10.1038/jhg.2015.69. Epub 2015 Jul 2.

16.

Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

Deik A, Johannes B, Rucker JC, Sánchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisán-Ruiz C.

J Neurol. 2014 Dec;261(12):2411-23. doi: 10.1007/s00415-014-7516-3. Epub 2014 Sep 30.

17.

Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations.

Karkheiran S, Krebs CE, Darvish H, Asadian M, Shahidi GA, Paisán-Ruiz C.

J Neurol. 2014 Jun;261(6):1223-6. doi: 10.1007/s00415-014-7360-5. Epub 2014 Apr 30. No abstract available.

PMID:
24781841
18.

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

Jaka O, Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A.

Muscle Nerve. 2014 Sep;50(3):448-53. doi: 10.1002/mus.24263. Epub 2014 Aug 5.

PMID:
24715573
19.

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.

J Mol Med (Berl). 2013 Dec;91(12):1399-406. doi: 10.1007/s00109-013-1075-4. Epub 2013 Aug 20.

20.

LRRK2: cause, risk, and mechanism.

Paisán-Ruiz C, Lewis PA, Singleton AB.

J Parkinsons Dis. 2013;3(2):85-103. doi: 10.3233/JPD-130192. Review.

21.

Mutations in γ adducin are associated with inherited cerebral palsy.

Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisán-Ruiz C, Houlden H.

Ann Neurol. 2013 Dec;74(6):805-14. doi: 10.1002/ana.23971.

22.

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C.

Hum Mutat. 2013 Sep;34(9):1200-7. doi: 10.1002/humu.22372. Epub 2013 Jul 19.

23.

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.

Neurosci Lett. 2013 Mar 14;537:1-5. doi: 10.1016/j.neulet.2013.01.011. Epub 2013 Jan 20.

PMID:
23340200
24.

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

Dogu O, Krebs CE, Kaleagasi H, Demirtas Z, Oksuz N, Walker RH, Paisán-Ruiz C.

Clin Genet. 2013 Oct;84(4):350-5. doi: 10.1111/cge.12079. Epub 2013 Jan 21.

PMID:
23278385
25.

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.

Karkheiran S, Krebs CE, Makarov V, Nilipour Y, Hubert B, Darvish H, Frucht S, Shahidi GA, Buxbaum JD, Paisán-Ruiz C.

Hum Genet. 2013 Mar;132(3):275-83. doi: 10.1007/s00439-012-1248-1. Epub 2012 Nov 9.

PMID:
23138527
26.

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.

Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H.

Hum Mutat. 2013 Feb;34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27.

27.

Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia.

Karkheiran S, Hubert B, Moghaddam H, Darvish H, Paisán-Ruiz C.

Clin Genet. 2013 Apr;83(4):392-4. doi: 10.1111/j.1399-0004.2012.01915.x. Epub 2012 Jul 9. No abstract available.

PMID:
22775298
28.

The use of next-generation sequencing in movement disorders.

Krebs CE, Paisán-Ruiz C.

Front Genet. 2012 May 14;3:75. doi: 10.3389/fgene.2012.00075. eCollection 2012.

29.

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, Klotzle B, Mahmoudi MJ, Ebrahimian MJ, Chelich N, Taghiabadi E, Kamyab K, Boileau C, Paisan-Ruiz C, Ronaghi M, Elahi E.

Hum Mutat. 2012 Aug;33(8):1182-7. doi: 10.1002/humu.22105. Epub 2012 May 29.

PMID:
22539340
30.

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.

Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A, Antón-Aguirre S, Martín I, Muñoz L, Bufill E, Vilageliu L, Grinberg D, Cozar M, Blesa R, Lleó A, Hardy J, Kulisevsky J, Clarimón J.

Mov Disord. 2012 Mar;27(3):393-9. doi: 10.1002/mds.24045. Epub 2011 Dec 15.

PMID:
22173904
31.

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.

Hum Genet. 2012 Mar;131(3):435-42. doi: 10.1007/s00439-011-1086-6. Epub 2011 Sep 13.

PMID:
21912879
32.

Thinning of the corpus callosum and cerebellar atrophy is correlated with phenotypic severity in a family with spastic paraplegia type 11.

Rajakulendran S, Paisán-Ruiz C, Houlden H.

J Clin Neurol. 2011 Jun;7(2):102-4. doi: 10.3988/jcn.2011.7.2.102. Epub 2011 Jun 28.

33.

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

UK Parkinson's Disease Consortium; Wellcome Trust Case Control Consortium 2, Spencer CC, Plagnol V, Strange A, Gardner M, Paisan-Ruiz C, Band G, Barker RA, Bellenguez C, Bhatia K, Blackburn H, Blackwell JM, Bramon E, Brown MA, Brown MA, Burn D, Casas JP, Chinnery PF, Clarke CE, Corvin A, Craddock N, Deloukas P, Edkins S, Evans J, Freeman C, Gray E, Hardy J, Hudson G, Hunt S, Jankowski J, Langford C, Lees AJ, Markus HS, Mathew CG, McCarthy MI, Morrison KE, Palmer CN, Pearson JP, Peltonen L, Pirinen M, Plomin R, Potter S, Rautanen A, Sawcer SJ, Su Z, Trembath RC, Viswanathan AC, Williams NW, Morris HR, Donnelly P, Wood NW.

Hum Mol Genet. 2011 Jan 15;20(2):345-53. doi: 10.1093/hmg/ddq469. Epub 2010 Nov 2.

34.

Common pathogenic pathways in melanoma and Parkinson disease.

Paisán-Ruiz C, Houlden H.

Neurology. 2010 Nov 2;75(18):1653-5. doi: 10.1212/WNL.0b013e3181fb4466.

PMID:
21041788
35.

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ.

Ann Neurol. 2010 Nov;68(5):611-8. doi: 10.1002/ana.22122.

36.

Genetic variability at the PARK16 locus.

Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C.

Eur J Hum Genet. 2010 Dec;18(12):1356-9. doi: 10.1038/ejhg.2010.125. Epub 2010 Aug 4.

37.

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H.

Mov Disord. 2010 Sep 15;25(12):1791-800. doi: 10.1002/mds.23221.

38.

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Aggarwal A, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M.

Mov Disord. 2010 Jul 30;25(10):1424-31. doi: 10.1002/mds.23095.

PMID:
20629144
39.

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.

Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H.

Neurobiol Aging. 2012 Apr;33(4):814-23. doi: 10.1016/j.neurobiolaging.2010.05.009. Epub 2010 Jul 21.

40.

POLG1 polyglutamine tract variants associated with Parkinson's disease.

Eerola J, Luoma PT, Peuralinna T, Scholz S, Paisan-Ruiz C, Suomalainen A, Singleton AB, Tienari PJ.

Neurosci Lett. 2010 Jun 14;477(1):1-5. doi: 10.1016/j.neulet.2010.04.021. Epub 2010 Apr 24.

41.

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.

Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP.

Mov Disord. 2010 Jun 15;25(8):979-84. doi: 10.1002/mds.22947.

PMID:
20310007
42.

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH.

Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205.

PMID:
20104589
43.

Genome-wide association study reveals genetic risk underlying Parkinson's disease.

Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T.

Nat Genet. 2009 Dec;41(12):1308-12. doi: 10.1038/ng.487. Epub 2009 Nov 15.

44.

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.

Paisán-Ruiz C, Ruiz-Martinez J, Ruibal M, Mok KY, Indakoetxea B, Gorostidi A, Martí Massó JF.

Mov Disord. 2009 Dec 15;24(16):2428-9. doi: 10.1002/mds.22849. No abstract available.

PMID:
19908320
45.

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

Narooie-Nejad M, Paylakhi SH, Shojaee S, Fazlali Z, Rezaei Kanavi M, Nilforushan N, Yazdani S, Babrzadeh F, Suri F, Ronaghi M, Elahi E, Paisán-Ruiz C.

Hum Mol Genet. 2009 Oct 15;18(20):3969-77. doi: 10.1093/hmg/ddp338. Epub 2009 Aug 4.

PMID:
19656777
46.

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, Quinn NP, Weber YG, Lerche H, Hardy J, Bhatia KP.

Mov Disord. 2009 Aug 15;24(11):1684-8. doi: 10.1002/mds.22507.

PMID:
19630075
47.

Parkinson's disease and low frequency alleles found together throughout LRRK2.

Paisán-Ruiz C, Washecka N, Nath P, Singleton AB, Corder EH.

Ann Hum Genet. 2009 Jul;73(Pt 4):391-403. doi: 10.1111/j.1469-1809.2009.00524.x. Epub 2009 May 21.

48.

SNCA variants are associated with increased risk for multiple system atrophy.

Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T.

Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685. Erratum in: Ann Neurol. 2010 Feb;67(2):277. Del Sorbo, Francesca [added]; Schneider, Susanne [added]; Bhatia, Kailash P [added].

49.

LRRK2 gene variation and its contribution to Parkinson disease.

Paisán-Ruiz C.

Hum Mutat. 2009 Aug;30(8):1153-60. doi: 10.1002/humu.21038.

PMID:
19472409
50.

The genetics of Parkinson's syndromes: a critical review.

Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C.

Curr Opin Genet Dev. 2009 Jun;19(3):254-65. doi: 10.1016/j.gde.2009.03.008. Epub 2009 May 4. Review.

PMID:
19419854

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