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1

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

Coro Paisan-Ruiz, Kailash P. Bhatia, Abi Li, Dena Hernandez, Mary Davis, Nick W. Wood, John Hardy, Henry Houlden, Andrew Singleton, Susanne A. Schneider

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 111 KB

english, 2009

2

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

Susanne A. Schneider, Coro Paisan-Ruiz, Ines Garcia-Gorostiaga, Niall P. Quinn, Yvonne G. Weber, Holger Lerche, John Hardy, Kailash P. Bhatia

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 218 KB

english, 2009

3

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

Núria Setó-Salvia, Javier Pagonabarraga, Henry Houlden, Berta Pascual-Sedano, Oriol Dols-Icardo, Arianna Tucci, Coro Paisán-Ruiz, Antonia Campolongo, Sofía Antón-Aguirre, Inés Martín, Laia Muñoz, Enri

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 764 KB

english, 2012

4

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

Jaka, Oihane, Azpitarte, Margarita, Paisán-Ruiz, Coro, Zulaika, Miren, Casas-Fraile, Leire, Sanz, Raúl, Trevisiol, Nathalie, Levy, Nicolas, Bartoli, Marc, Krahn, Martin, López de Munain, Adolfo, Sáenz

Journal:

Year:

2014

Language:

english

File:

PDF, 508 KB

english, 2014

5

Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder

Coro Paisán-Ruiz, Geoff Scopes, Philip Lee, Henry Houlden

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 197 KB

english, 2009

6

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

Coro Paisàn-Ruìz, Amets Sàenz, Adolfo Lòpez de Munain, Itxaso Martì, Angel Martìnez Gil, Josè F. Martì-Massò, Jordi Pèrez-Tur

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 526 KB

english, 2005

7

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

Dena G. Hernandez, Coro Paisán-Ruíz, Aideen McInerney-Leo, Shushant Jain, Andreas Meyer-Lindenberg, E. Whitney Evans, Karen F. Berman, Janel Johnson, Georg Auburger, Alejandro A. Schäffer, Grisel J. L

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 356 KB

english, 2005

8

SNCA variants are associated with increased risk for multiple system atrophy

Sonja W. Scholz, Henry Houlden, Claudia Schulte, Manu Sharma, Abi Li, Daniela Berg, Anna Melchers, Reema Paudel, J. Raphael Gibbs, Javier Simon-Sanchez, Coro Paisan-Ruiz, Jose Bras, Jinhui Ding, Hongl

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 90 KB

english, 2009

9

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

Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 497 KB

english, 2010

10

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls

Coro Paisán-Ruíz, Priti Nath, Nicole Washecka, J. Raphael Gibbs, Andrew B. Singleton

Journal:

Year:

2008

Language:

english

File:

PDF, 381 KB

english, 2008

11

LRRK2 gene variation and its contribution to Parkinson disease

Coro Paisán-Ruiz

Journal:

Year:

2009

Language:

english

File:

PDF, 178 KB

english, 2009

12

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

Katherine J. Dick, Matthias Eckhardt, Coro Paisán-Ruiz, Aisha Alkhayat Alshehhi, Christos Proukakis, Naomi A. Sibtain, Helena Maier, Reza Sharifi, Michael A. Patton, Wafa Bashir, Roshan Koul, Sandy Ra

Journal:

Year:

2010

Language:

english

File:

PDF, 563 KB

english, 2010

13

Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

Javier Simón-Sánchez, José-Félix Martí-Massó, José Vicente Sánchez-Mut, Coro Paisán-Ruiz, Angel Martínez-Gil, Javier Ruiz-Martínez, Amets Sáenz, Andrew B. Singleton, Adolfo López de Munain, Jordi Pére

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

14

Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening

Jordi Clarimón, Javier Pagonabarraga, Coro Paisán-Ruíz, Antonia Campolongo, Berta Pascual-Sedano, José-Félix Martí-Massó, Andrew B. Singleton, Jaime Kulisevsky

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 107 KB

english, 2008

15

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

Coro Paisán-Ruiz, Javier Ruiz-Martinez, Marta Ruibal, Kin Y. Mok, Begona Indakoetxea, Ana Gorostidi, José F. Martí Massó

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 263 KB

english, 2009

16

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

Susanne A. Schneider, Coro Paisan-Ruiz, Niall P. Quinn, Andrew J. Lees, Henry Houlden, John Hardy, Kailash P. Bhatia

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 105 KB

english, 2010

17

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

Annu Aggarwal, Susanne A. Schneider, Henry Houlden, Monty Silverdale, Reema Paudel, Coro Paisan-Ruiz, Shrinivas Desai, Mihir Munshi, Darshana Sanghvi, John Hardy, Kailash P. Bhatia, Mohit Bhatt

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 188 KB

english, 2010

18

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

Coro Paisán-Ruiz, Rocio Guevara, Monica Federoff, Hasmet Hanagasi, Fardaz Sina, Elahe Elahi, Susanne A. Schneider, Petra Schwingenschuh, Nin Bajaj, Murat Emre, Andrew B. Singleton, John Hardy, Kailash

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 359 KB

english, 2010

19

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

Jose Felix Marti-Masso, Javier Ruiz-Martínez, Vladimir Makarov, Adolfo López de Munain, Ana Gorostidi, Alberto Bergareche, Seungtai Yoon, Joseph D. Buxbaum, Coro Paisán-Ruiz

Journal:

Year:

2012

Language:

english

File:

PDF, 396 KB

english, 2012

20

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

C. Paisan-Ruiz, P. Nath, N. W. Wood, A. Singleton, H. Houlden

Journal:

European Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 421 KB

english, 2008

21

R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family

F. Sina, S. Shojaee, E. Elahi, C. Paisán-Ruiz

Journal:

European Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 159 KB

english, 2009

22

Parkinson's Disease and Low Frequency Alleles Found Together Throughout LRRK2

Coro Paisán-Ruiz, Nicole Washecka, Priti Nath, Andrew B. Singleton, Elizabeth H. Corder

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 341 KB

english, 2009

23

Genetic variability at the PARK16 locus

Tucci, Arianna, Nalls, Mike A, Houlden, Henry, Revesz, Tamas, Singleton, Andrew B, Wood, Nicholas W, Hardy, John, Paisán-Ruiz, Coro

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 200 KB

english, 2010

24

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

Simón-Sánchez, Javier, Schulte, Claudia, Bras, Jose M, Sharma, Manu, Gibbs, J Raphael, Berg, Daniela, Paisan-Ruiz, Coro, Lichtner, Peter, Scholz, Sonja W, Hernandez, Dena G

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 559 KB

english, 2009

25

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Sarah Camargos, Sonja Scholz, Javier Simón-Sánchez, Coro Paisán-Ruiz, Patrick Lewis, Dena Hernandez, Jinhui Ding, J Raphael Gibbs, Mark R Cookson, Jose Bras, Rita Guerreiro, Catarina Resende Oliveira,

Journal:

The Lancet Neurology

Year:

2008

Language:

english

File:

PDF, 596 KB

english, 2008

26

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

Brooks, J, Ding, J, Simon-Sanchez, J, Paisan-Ruiz, C, Singleton, A B, Scholz, S W

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.73 MB

english, 2009

27

The genetics of Parkinson's syndromes: a critical review

John Hardy, Patrick Lewis, Tamas Revesz, Andrew Lees, Coro Paisan-Ruiz

Journal:

Current Opinion in Genetics & Development

Year:

2009

Language:

english

File:

PDF, 671 KB

english, 2009

28

Apolipoprotein E ɛ4 allele in familial and sporadic Parkinson's disease

L. Blázquez, D. Otaegui, A. Sáenz, C. Paisán-Ruiz, J.I. Emparanza, J. Ruiz-Martinez, F. Moreno, J.F. Martí-Massó, A. López de Munain

Journal:

Neuroscience Letters

Year:

2006

Language:

english

File:

PDF, 107 KB

english, 2006

29

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

Kallirhoe Kalinderi, Sevasti Bostantjopoulou, Coro Paisan-Ruiz, Zoe Katsarou, John Hardy, Liana Fidani

Journal:

Neuroscience Letters

Year:

2009

Language:

english

File:

PDF, 118 KB

english, 2009

30

POLG1 polyglutamine tract variants associated with Parkinson's disease

Johanna Eerola, Petri T. Luoma, Terhi Peuralinna, Sonja Scholz, Coro Paisan-Ruiz, Anu Suomalainen, Andrew B. Singleton, Pentti J. Tienari

Journal:

Neuroscience Letters

Year:

2010

Language:

english

File:

PDF, 146 KB

english, 2010

31

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

Jose Bras, Coro Paisan-Ruiz, Rita Guerreiro, Maria Helena Ribeiro, Ana Morgadinho, Cristina Januario, Ellen Sidransky, Catarina Oliveira, Andrew Singleton

Journal:

Neurobiology of Aging

Year:

2009

Language:

english

File:

PDF, 78 KB

english, 2009

32

Whole genome analysis in a consanguineous family with early onset Alzheimer's disease

J. Clarimón, R. Djaldetti, A. Lleó, R.J. Guerreiro, J.L. Molinuevo, C. Paisán-Ruiz, T. Gómez-Isla, R. Blesa, A. Singleton, J. Hardy

Journal:

Neurobiology of Aging

Year:

2009

Language:

english

File:

PDF, 737 KB

english, 2009

33

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

Coro Paisán-Ruiz, Abi Li, Susanne A. Schneider, Janice L. Holton, Robert Johnson, Desmond Kidd, Jeremy Chataway, Kailash P. Bhatia, Andrew J. Lees, John Hardy, Tamas Revesz, Henry Houlden

Journal:

Neurobiology of Aging

Year:

2012

Language:

english

File:

PDF, 1.50 MB

english, 2012

34

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

William C Nichols, Nathan Pankratz, Dena Hernandez, Coro Paisán-Ruíz, Shushant Jain, Cheryl A Halter, Veronika E Michaels, Terry Reed, Alice Rudolph, Clifford W Shults, Andrew Singleton, Tatiana Forou

Journal:

Year:

2005

Language:

english

File:

PDF, 215 KB

english, 2005

35

P1.060 Pathological observations in seven cases with neurodegeneration with brain iron accumulation (NBIA) with mutations in PANK2 and PLA2G6

A. Li, C. Paisan-Ruiz, K. Bhatia, S. Schneider, J. Hardy, D. Kidd, J. Chataway, J. Holton, H. Houlden, T. Revesz

Journal:

Parkinsonism & Related Disorders

Year:

2009

Language:

english

File:

PDF, 57 KB

english, 2009

36

Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

Tucci, Arianna, Kara, Eleanna, Schossig, Anna, Wolf, Nicole I., Plagnol, Vincent, Fawcett, Katherine, Paisán-Ruiz, Coro, Moore, Matthew, Hernandez, Dena, Musumeci, Sebastiano, Tennison, Michael, Henne

Journal:

Year:

2013

Language:

english

File:

PDF, 225 KB

english, 2013

37

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

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

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 583 KB

english, 2012

38

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

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 810 KB

english, 2013

39

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

Gatto, Emilia Mabel, Parisi, Virginia, Converso, Daniela Paola, Poderoso, Juan José, Carreras, María Cecilia, Martí-Massó, José Felix, Paisán-Ruiz, Coro

Journal:

Neuroscience Letters

Year:

2013

Language:

english

File:

PDF, 228 KB

english, 2013

40

Variable phenotypic expression in families with early-onset Parkinsonism due toPRKNmutations

Karkheiran, Siamak, Krebs, Catharine E., Darvish, Hossein, Asadian, Mojgan, Shahidi, Gholam Ali, Paisán-Ruiz, Coro

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 377 KB

english, 2014

41

Common pathogenic pathways in melanoma and Parkinson disease

Paisan-Ruiz, C., Houlden, H.

Journal:

Year:

2010

Language:

english

File:

PDF, 435 KB

english, 2010

42

Compound heterozygousPNPLA6mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

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

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 2.11 MB

english, 2014

43

Identification of a novel monogenic autoinflammatory disease due to mutation in a mitochondrial chaperone protein in a single kindred, and cure with allogeneic haematopoietic stem cell transplantation

Standing, Ariane, Paisan-Ruiz, Coro, Eleftheriou, Despina, Hong, Ying, Omoyinmi, Ebun, Rowcenzio, Dorota, Lachmann, Helen, Hawkins, Philip, Woo, Patricia, Klein, Nigel, Brogan, Paul

Journal:

Pediatric Rheumatology

Year:

2014

Language:

english

File:

PDF, 265 KB

english, 2014

44

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

Nalls, Michael A., Simon-Sanchez, Javier, Gibbs, J. Raphael, Paisan-Ruiz, Coro, Bras, Jose Tomas, Tanaka, Toshiko, Matarin, Mar, Scholz, Sonja, Weitz, Charles, Harris, Tamara B., Ferrucci, Luigi, Hard

Journal:

Year:

2009

Language:

english

File:

PDF, 151 KB

english, 2009

45

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 1.58 MB

english, 2005

46

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

Ruiz-Martinez, Javier, Krebs, Catharine E, Makarov, Vladimir, Gorostidi, Ana, Martí-Massó, Jose Félix, Paisán-Ruiz, Coro

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 358 KB

english, 2015

47

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

Paisan-Ruiz, C., Lang, A. E., Kawarai, T., Sato, C., Salehi-Rad, S., Fisman, G. K., Al-Khairallah, T., St George-Hyslop, P., Singleton, A., Rogaeva, E.

Journal:

Year:

2005

Language:

english

File:

PDF, 171 KB

english, 2005

48

SORT1 Mutation Resulting in Sortilin Deficiency and p75NTR Upregulation in a Family With Essential Tremor

Sanchez, E., Bergareche, A., Krebs, C. E., Gorostidi, A., Makarov, V., Ruiz-Martinez, J., Chorny, A., Lopez de Munain, A., Marti-Masso, J. F., Paisan-Ruiz, C.

Journal:

Year:

2015

Language:

english

File:

PDF, 840 KB

english, 2015

49

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

Paisan-Ruiz, C., Dogu, O., Yilmaz, A., Houlden, H., Singleton, A.

Journal:

Year:

2008

Language:

english

File:

PDF, 270 KB

english, 2008

50

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

Sanchez, Elena, Darvish, Hossein, Mesias, Roxana, Taghavi, Shaghyegh, Firouzabadi, Saghar Ghasemi, Walker, Ruth H., Tafakhori, Abbas, Paisán-Ruiz, Coro

Journal:

Year:

2016

Language:

english

File:

PDF, 907 KB

english, 2016

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