J. Martí‐Massó

发表

Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants

E. Tolosa, K. Marder, C. Tanner, 2014, Genetics in Medicine.

Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis.

A. Mirelman, Nir Giladi, E. Friedman, 2015, JAMA neurology.

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

Martin N. Rossor, Margaret Sutherland, Colin J. Mahoney, 2012, PloS one.

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

C. Paisán-Ruiz, J. Ruiz‐Martinez, A. Bergareche, 2017, Neurology: Genetics.

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.

J. Trojanowski, E. Tolosa, K. Marder, 2015, JAMA neurology.

Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease

Andrew Lees, Adolfo López de Munain, Rohan de Silva, 2004, Neuron.

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

J. Poderoso, M. C. Carreras, C. Paisán-Ruiz, 2013, Neuroscience Letters.

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

I. Ferrer, A. Gorostidi, J. Ruiz‐Martinez, 2009, Movement disorders : official journal of the Movement Disorder Society.

α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

A. Gorostidi, J. Ruiz‐Martinez, A. L. de Munain, 2012, PloS one.

Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis. A report of 50 cases.

E. Díez-Tejedor, J. Pascual, R. Leira, 1997, Brain : a journal of neurology.

Intramedullary spinal sarcoidosis

B. Stern, S. R. Levine, E. Sipos, 1993, Neurology.

Pathogenic LRRK 2 mutations do not alter gene expression in cell model systems or human brain tissue

Michael J. Devine, M. Cookson, J. Hardy, 2017 .

Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue

Michael J. Devine, M. Cookson, J. Hardy, 2011, PloS one.

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

A. Singleton, J. Simón‐Sánchez, A. López de Munain, 2006, Movement disorders : official journal of the Movement Disorder Society.

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

A. Sáenz, C. Paisán-Ruiz, A. L. de Munain, 2005, Annals of neurology.

[Concerning the initial description of pseudomigraine syndrome with cerebrospinal fluid pleocytosis].

J. Martí‐Massó, 2008, Revista de neurología (Ed. impresa).

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

J. Martí-Massó, N. Carrera, M. Urtasun, 1992, The Annals of pharmacotherapy.

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

Vladimir Makarov, K. Jurkat-Rott, C. Paisán-Ruiz, 2015, Human molecular genetics.

Phenotypic variability in familial prion diseases due to the D178N mutation

M. Pancorbo, M. D. de Pancorbo, A. López de Munain, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Cinnarizine‐induced parkinsonism: Ten years later

J. Martí-Massó, J. Poza, J. Martí‐Massó, 1998, Movement Disorders.

Familial Prion Diseases in the Basque Country (Spain)

J. Zarranz, M. Fernández-Martínez, J. Martí-Massó, 2004, Neuroepidemiology.

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

M. Rodriguez-Oroz, A. Gorostidi, J. Ruiz‐Martinez, 2016, Molecular Diagnosis & Therapy.

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

R. Siebert, P. Deloukas, L. French, 2002, Human molecular genetics.

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

Vladimir Makarov, J. Buxbaum, P. Striano, 2013, Journal of Molecular Medicine.

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

Seungtai Yoon, Vladimir Makarov, J. Buxbaum, 2012, Human Genetics.

[Autoimmune hepatitis in a patient with multiple sclerosis under treatment with glatiramer acetate].

A. López de Munain, T. Castillo-Triviño, P. de la Riva, 2012, Revista de neurologia.

[Post-menopausal hot flushes and parkinsonism].

A. Marinas, G. Gutiérrez-Gutiérrez, J. Martí‐Massó, 2004, Revista de neurologia.

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

Michael J. Devine, J. Hardy, A. Schapira, 2013, Biochemical and biophysical research communications.

Selection of Entropy Based Features for Automatic Analysis of Essential Tremor

Marcos Faúndez-Zanuy, Jordi Solé i Casals, Enric Sesa-Nogueras, 2016, Entropy.

Analysis of Fine Motor Skills in Essential Tremor: Combining Neuroimaging and Handwriting Biomarkers for Early Management

J. Suckling, M. Faúndez-Zanuy, A. Bergareche, 2021, Frontiers in Human Neuroscience.

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

Alberto Bergareche, Belén Gago, M. Rodriguez-Oroz, 2017, Movement disorders : official journal of the Movement Disorder Society.

DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease

E. Tolosa, M. Rodriguez-Oroz, A. López de Munain, 2016, Movement disorders : official journal of the Movement Disorder Society.

Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2.

M. Rodriguez-Oroz, A. López de Munain, A. Gorostidi, 2014, Parkinsonism & related disorders.

Inflammatory profile discriminates clinical subtypes in LRRK2‐associated Parkinson's disease

E. Tolosa, D. Berg, T. Foroud, 2017, European journal of neurology.

Inflammatory profile in LRRK2-associated prodromal and clinical PD

E. Tolosa, D. Berg, T. Foroud, 2016, Journal of Neuroinflammation.

Reversible delayed post-hypoxic leukoencephalopathy.

P. de la Riva, M. Tainta, M. Urtasun, 2017, Neurología.

Leucoencefalopatía posthipóxica diferida reversible

M. Tainta, M. Urtasun, P. Riva, 2018 .

Mitochondrial polymporphisms in Parkinson's Disease

J. Pérez-Tur, D. Otaegui, A. L. Munain, 2004, Neuroscience Letters.

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

Vladimir Makarov, A. López de Munain, C. Paisán-Ruiz, 2015, ASN neuro.

Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening

A. Singleton, J. Kulisevsky, J. Clarimón, 2008, Movement disorders : official journal of the Movement Disorder Society.

Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

P. Deloukas, P. Striano, R. Michelucci, 2006, Epilepsy Research.

Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations.

M. Luquin, J. Ruiz‐Martinez, M. Carmona, 2015, Parkinsonism & related disorders.

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

Vladimir Makarov, C. Paisán-Ruiz, A. Gorostidi, 2015, Journal of Human Genetics.

Selection of entropy based features for the analysis of the Archimedes' spiral applied to essential tremor

M. Iturrate, M. Faundez-Zanuy, K. Lopez de Ipina, 2015, 2015 4th International Work Conference on Bioinspired Intelligence (IWOBI).

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

Seungtai Yoon, Vladimir Makarov, J. Buxbaum, 2011, Human Genetics.

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

C. Paisán-Ruiz, J. Ruiz‐Martinez, A. Bergareche, 2017, Neurology: Genetics.

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

O. Combarros, J. Infante, P. Sánchez-Juan, 2011, Parkinsonism & related disorders.

Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q

J. Prud'homme, A. López de Munain, D. Grid, 1999, Annals of neurology.

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

J. Emparanza, A. López de Munain, M. Jodar, 2009, Psychological Medicine.