A. Gorostidi

发表

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, Movement disorders : official journal of the Movement Disorder Society.

The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, bioRxiv.

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.

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.

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2019, The Lancet Neurology.

The MAPK1/3 pathway is essential for the deregulation of autophagy observed in G2019S LRRK2 mutant fibroblasts

J. M. Bravo-San Pedro, M. Niso-Santano, J. M. Fuentes, 2012, Autophagy.

Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

I. Ferrer, A. Sáenz, A. Gorostidi, 2008, Biological Psychiatry.

Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)

A. Gorostidi, J. Ruiz‐Martinez, A. L. de Munain, 2010, Movement disorders : official journal of the Movement Disorder Society.

Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes

F. Jessen, W. Maier, A. Wetter, 2014, Neurobiology of Aging.

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2019, NeuroImage: Clinical.

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.

LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity

A. López de Munain, A. Gorostidi, J. Ruiz‐Martinez, 2009, neurogenetics.

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.

Smoking is associated with age at disease onset in Parkinson's disease.

J. Hoenicka, E. Tolosa, J. Kulisevsky, 2022, Parkinsonism & related disorders.

A Novel PRNP Y218N Mutation in Gerstmann-Sträussler-Scheinker Disease With Neurofibrillary Degeneration

I. Ferrer, A. López de Munain, A. Gorostidi, 2010, Journal of neuropathology and experimental neurology.

Progressive changes in non-coding RNA profile in leucocytes with age

A. Gorostidi, J. Ruiz‐Martinez, A. L. de Munain, 2017, Aging.

Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2022, Journal of Neuroinflammation.

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations

Jennifer M. Nicholas, P. Thompson, R. Keren, 2022, Journal of Neurology.

The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia

Nick C Fox, M. Freedman, S. Ourselin, 2022, Annals of clinical and translational neurology.

Temporal order of clinical and biomarker changes in familial frontotemporal dementia

Jennifer M. Nicholas, Sheng-Yang M. Goh, M. Freedman, 2022, Nature Medicine.

Analysis of HFE mutations and non‐HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the basque country

A. Gorostidi, A. Castiella, P. Otazua, 2016, International journal of laboratory hematology.

Endothelial NO synthase 786T/T polymorphism increases hemorrhagic transformation after endovascular thrombectomy.

T. Sobrino, A. Gorostidi, A. Bergareche, 2022, Nitric oxide : biology and chemistry.

Alzheimer's disease cerebrospinal fluid biomarker in cognitively normal subjects.

Harald Hampel, Wiesje M van der Flier, Philip Scheltens, 2015, Brain : a journal of neurology.

Beyond Asexual Development: Modifications in the Gene Expression Profile Caused by the Absence of the Aspergillus nidulans Transcription Factor FlbB

E. Espeso, A. Gorostidi, O. Etxebeste, 2015, Genetics.

Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2

M. Rodriguez-Oroz, A. López de Munain, A. Gorostidi, 2014, Movement disorders : official journal of the Movement Disorder Society.

The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway

J. M. Bravo-San Pedro, M. Niso-Santano, J. M. Fuentes, 2012, Cellular and Molecular Life Sciences.

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.

Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study

Jennifer M. Nicholas, M. Freedman, N. Fox, 2021, Alzheimer's & dementia.

Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2020, Cortex.

α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

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

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

O. Combarros, V. Álvarez, A. Ruiz, 2015, Brain : a journal of neurology.

A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2021, Brain : a journal of neurology.

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2019, Neurobiology of Aging.

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.

Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Journal of Neurology.

Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study

M. Freedman, J. Dukart, R. Keren, 2023, Neurobiology of Disease.

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2020, NeuroImage: Clinical.

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.

Clinical follow up of pathological gambling in Parkinson's disease in the West Scotland study

C. Paisán-Ruiz, A. Gorostidi, J. Ruiz‐Martinez, 2009, Movement disorders : official journal of the Movement Disorder Society.

Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort

J. E. Iglesias, Jennifer M. Nicholas, M. Freedman, 2023, Brain communications.

Differential early subcortical involvement in genetic FTD within the GENFI cohort

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2021, NeuroImage: Clinical.

MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium.

J. Kulisevsky, O. Combarros, M. Bullido, 2015, Journal of Alzheimer's disease : JAD.

Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons

V. Lang, A. López de Munain, A. Gorostidi, 2016, Journal of Neuroinflammation.

Alzheimer disease Cerebrospinal Fluid biomarker in Cognitively Normal Subjects : Multicenter 1 Study 2

Sebastiaan, Kaj, William T. Hu, 2015 .

Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

J. Clarimón, A. Lleó, P. Pástor, 2013, Human mutation.

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics

A. López de Munain, P. Sánchez-Juan, F. Calafell, 2017, PloS one.

The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway

J. M. Bravo-San Pedro, M. Niso-Santano, J. M. Fuentes, 2012, Cellular and Molecular Life Sciences.

Olfactory deficits and cardiac 123I‐MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations

A. López de Munain, A. Gorostidi, J. Ruiz‐Martinez, 2011, Movement disorders : official journal of the Movement Disorder Society.

Assessing the role of TUBA4A gene in frontotemporal degeneration

O. Combarros, V. Álvarez, J. Clarimón, 2016, Neurobiology of Aging.

Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson's Disease in the Basque Country (Spain)

C. Paisán-Ruiz, A. Gorostidi, J. Ruiz‐Martinez, 2015 .

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.

A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene

A. Gorostidi, A. Vinagre-Aragón, I. Croitoru, 2021, Frontiers in Neurology.

Parkin and LRRK 2 / Dardarin Mutations in Early Onset Parkinson ’ s Disease in the Basque Country ( Spain )

A. López de Munain, C. Paisán-Ruiz, A. Gorostidi, 2015 .

Language impairment in the genetic forms of behavioural variant frontotemporal dementia

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Journal of Neurology.

Epitope Mapping of Antibodies to Alpha-Synuclein in LRRK2 Mutation Carriers, Idiopathic Parkinson Disease Patients, and Healthy Controls

A. López de Munain, A. Gorostidi, J. Ruiz‐Martinez, 2014, Front. Aging Neurosci..

A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study

Jennifer M. Nicholas, M. Freedman, S. Ourselin, 2021, Molecular Neurodegeneration.

Leucine-rich repeat kinase 2 modulates cyclooxygenase 2 and the inflammatory response in idiopathic and genetic Parkinson's disease

A. Aiastui, A. Gorostidi, R. Sánchez-Pernaute, 2014, Neurobiology of Aging.

Genetic variability related to serum uric acid concentration and risk of Parkinson's disease

O. Combarros, J. Infante, P. Sánchez-Juan, 2013, Movement disorders : official journal of the Movement Disorder Society.

Theme 08 - Clinical Imaging and Electrophysiology

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

Ratios of proteins in cerebrospinal fluid in Parkinson's disease cognitive decline: prospective study

M. Rodriguez-Oroz, A. Gorostidi, J. Ruiz‐Martinez, 2018, Movement disorders : official journal of the Movement Disorder Society.

Somatic mosaicism in a case of apparently sporadic Creutzfeldt‐Jakob disease carrying a de novo D178N mutation in the PRNP gene

I. Ferrer, M. Pancorbo, I. Ferrer, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

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

Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2022, Journal of Neuroinflammation.

Pseudotumour cerebri in children: aetiology, clinical features, and progression

A. Gorostidi, E. Gembero Esarte, G. Azcona Ganuza, 2019, Neurología (English Edition).

Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort

Jennifer M. Nicholas, M. Freedman, R. Keren, 2023, Journal of the Neurological Sciences.

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

C. Paisán-Ruiz, A. Gorostidi, B. Indakoetxea, 2009, Movement Disorders.

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.

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.

Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)

A. Gorostidi, J. Ruiz‐Martinez, A. L. de Munain, 2010, Movement disorders : official journal of the Movement Disorder Society.

The MAPK1/3 pathway is essential for the deregulation of autophagy observed in G2019S LRRK2 mutant fibroblasts

J. M. Bravo-San Pedro, M. Niso-Santano, J. M. Fuentes, 2012, Autophagy.

Diagnostic accuracy of research criteria for prodromal frontotemporal dementia

Y. Pijnenburg, T. Rittman, B. Nacmias, 2024, Alzheimer's Research & Therapy.

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

C. Paisán-Ruiz, A. Gorostidi, B. Indakoetxea, 2009, Movement disorders : official journal of the Movement Disorder Society.

Altered plasma protein profiles in genetic FTD – a GENFI study

S. Ourselin, H. Karnath, Y. Pijnenburg, 2023, Molecular Neurodegeneration.

Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia

A. Danek, Y. Pijnenburg, R. Vandenberghe, 2022, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Analysis of brain atrophy and local gene expression implicates astrocytes in Frontotemporal dementia

C. Fenoglio, E. Scarpini, R. Bruffaerts, 2019 .

A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study

S. Ourselin, R. Keren, H. Karnath, 2021, Molecular Neurodegeneration.