Martí-Massó, Jose F.: search on Z-Library

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1

Genetic Mutation Analysis of Parkinson’s Disease Patients Using Multigene Next-Generation Sequencing Panels

Gorostidi, Ana, Martí-Massó, José Félix, Bergareche, Alberto, Rodríguez-Oroz, Mari Cruz, de Munain, Adolfo López, Ruiz-Martínez, Javier

Journal:

Molecular Diagnosis & Therapy

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

2

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

Ruiz-Martínez, Javier, Azcona, Luis J., Bergareche, Alberto, Martí-Massó, Jose F., Paisán-Ruiz, Coro

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 439 KB

english, 2017

3

Tau/α-synuclein ratio and inflammatory proteins in Parkinson's disease: An exploratory study

Delgado-Alvarado, Manuel, Gago, Belén, Gorostidi, Ana, Jiménez-Urbieta, Haritz, Dacosta-Aguayo, Rosalía, Navalpotro-Gómez, Irene, Ruiz-Martínez, Javier, Bergareche, Alberto, Martí-Massó, José F., Mart

Journal:

Movement Disorders

Year:

2017

Language:

english

File:

PDF, 384 KB

english, 2017

4

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

5

Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation

Manzoni, Claudia, Mamais, Adamantios, Dihanich, Sybille, McGoldrick, Phillip, Devine, Michael J., Zerle, Julia, Kara, Eleanna, Taanman, Jan-Willem, Healy, Daniel G., Marti-Masso, Jose-Felix, Schapira,

Journal:

Biochemical and Biophysical Research Communications

Year:

2013

Language:

english

File:

PDF, 774 KB

english, 2013

6

Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2

José-Félix Martí-Massó, Javier Ruiz-Martínez, Maria J. Bolaño, Irune Ruiz, Ana Gorostidi, Fermin Moreno, Isidre Ferrer, Adolfo López de Munain

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 348 KB

english, 2009

7

Medicine and the Law

Manzoni, Claudia, Mamais, Adamantios, Dihanich, Sybille, McGoldrick, Phillip, Devine, Michael J., Zerle, Julia, Kara, Eleanna, Taanman, Jan-Willem, Healy, Daniel G., Marti-Masso, Jose-Felix, Schapira,

Journal:

Year:

1949

Language:

english

File:

PDF, 415 KB

english, 1949

8

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

Bergareche, Alberto, Bednarz, Marcin, Sánchez, Elena, Krebs, Catharine E., Ruiz-Martinez, Javier, De la Riva, Patricia, Makarov, Vladimir, Gorostidi, Ana, Jurkat-Rott, Karin, Marti-Masso, Jose Felix,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1013 KB

english, 2015

9

Reply

Josè F. Martì-Massò, Juan J. Poza

Journal:

Movement Disorders

Year:

1999

Language:

english

File:

PDF, 50 KB

english, 1999

10

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

11

Selection of Entropy Based Features for Automatic Analysis of Essential Tremor

López-de-Ipiña, Karmele, Solé-Casals, Jordi, Faundez-Zanuy, Marcos, Calvo, Pilar, Sesa, Enric, Martinez de Lizarduy, Unai, De La Riva, Patricia, Marti-Masso, Jose, Beitia, Blanca, Bergareche, Alberto

Journal:

Year:

2016

Language:

english

File:

PDF, 3.62 MB

english, 2016

12

Cinnarizine-induced parkinsonism: Ten years later

José F. Martí-Massó, Juan J. Poza

Journal:

Movement Disorders

Year:

1998

Language:

english

File:

PDF, 370 KB

english, 1998

13

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

14

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

15

Congenital Spinal Malformation and Stroke: Aneurysmal Dilatations and Bilateral Rotational Vertebral Artery Occlusion

de la Riva, Patricia, Martínez-Zabaleta, Maria Teresa, Pardo, Edurne, Samprón, Nicolás, Mondragón-Rezola, Elisabet, Arruti González, Maialen, Larrea, Jose Ángel, Martí-Massó, José Félix

Journal:

Journal of Stroke and Cerebrovascular Diseases

Year:

2016

Language:

english

File:

PDF, 298 KB

english, 2016

16

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

17

High-Dose Intravenous Immune Globulin in the Management of Severe Guillain-Barre Syndrome

Urtasun, Miguel, de Murrain, Adolfo López, Carrera, Nieves, Martí-Massó, José F., de Dicastillo, Gonzalo López, Mozo, Carmela

Journal:

Annals of Pharmacotherapy

Year:

1992

Language:

english

File:

PDF, 278 KB

english, 1992

18

Higher Frequency of Certain Cancers in LRRK2 G2019S Mutation Carriers With Parkinson Disease

Agalliu, Ilir, San Luciano, Marta, Mirelman, Anat, Giladi, Nir, Waro, Bjorg, Aasly, Jan, Inzelberg, Rivka, Hassin-Baer, Sharon, Friedman, Eitan, Ruiz-Martinez, Javier, Marti-Masso, Jose Felix, Orr-Urt

Journal:

Year:

2015

Language:

english

File:

PDF, 166 KB

english, 2015

19

α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

Gorostidi, Ana, Bergareche, Alberto, Ruiz-Martínez, Javier, Martí-Massó, José F., Cruz, María, Varghese, Shiji, Qureshi, Mohamed M., Alzahmi, Fatimah, Al-Hayani, Abdulmonem, de Munáin, Adolfo López, E

Journal:

Year:

2012

Language:

english

File:

PDF, 284 KB

english, 2012

20

SCN4A Pore Mutation Pathogenetically Contributes to Autosomal Dominant Essential Tremor and May Increase Susceptibility to Epilepsy

Bergareche, Alberto, Bednarz, Marcin J., Sánchez, Elena, Krebs, Catharine E., Ruiz-Martinez, Javier, De la Riva, Patricia, Makarov, Vladimir, Gorostidi, Ana, Jurkat-Rott, Karin, Marti-Masso, Jose Feli

Journal:

Biophysical Journal

Year:

2016

Language:

english

File:

PDF, 50 KB

english, 2016

21

Genetic variation in α-synuclein kinases (CK-2β and GRK-5) and risk of Parkinson’s disease

Inés García-Gorostiaga, María Sierra, Pascual Sánchez-Juan, Javier Ruiz-Martínez, Ana Gorostidi, Isabel González-Aramburu, José Félix Martí-Massó, José Berciano, Onofre Combarros, Jon Infante

Journal:

Parkinsonism & Related Disorders

Year:

2011

Language:

english

File:

PDF, 103 KB

english, 2011

22

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

23

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

Jose Felix Martí-Massó,Alberto Bergareche…

Journal:

Journal of Molecular Medicine

Year:

2013

Language:

english

File:

PDF, 282 KB

english, 2013

24

Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations

Tijero, Beatriz, Gabilondo, Iñigo, Lezcano, Elena, Teran-Villagrá, Nuria, Llorens, Verónica, Ruiz-Martinez, Javier, Marti-Masso, Jose Felix, Carmona, M., Luquin, Maria Rosario, Berganzo, Koldo, Fernan

Journal:

Parkinsonism & Related Disorders

Year:

2015

Language:

english

File:

PDF, 975 KB

english, 2015

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