José Felix Martí Massó-rekin lankidetzan egindako argitalpenak (35)

2017

  1. Inflammatory profile discriminates clinical subtypes in LRRK2-associated Parkinson's disease

    European Journal of Neurology, Vol. 24, Núm. 2, pp. 427-e6

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

    Movement Disorders, Vol. 32, Núm. 7, pp. 1066-1073

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

    Neurology: Genetics, Vol. 3, Núm. 5

  4. ¿Son la forma precoz y la de presentación tardía la misma enfermedad de Parkinson?

    Revista española de trastornos del movimiento, Vol. 9, Núm. 1, pp. 6-11

2016

  1. DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2R1441G Parkinson's disease

    Movement Disorders, Vol. 31, Núm. 3, pp. 335-343

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

    Molecular Diagnosis and Therapy, Vol. 20, Núm. 5, pp. 481-491

  3. Inflammatory profile in LRRK2-associated prodromal and clinical PD

    Journal of Neuroinflammation, Vol. 13, Núm. 1

2015

  1. Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations

    Parkinsonism and Related Disorders, Vol. 21, Núm. 7, pp. 717-722

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

    JAMA Neurology, Vol. 72, Núm. 1, pp. 100-105

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

    Journal of Human Genetics, Vol. 60, Núm. 10, pp. 637-640

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

    JAMA Neurology, Vol. 72, Núm. 1, pp. 58-65

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

    ASN neuro, Vol. 7, Núm. 4

2014

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

    Parkinsonism and Related Disorders, Vol. 20, Núm. 10, pp. 1097-1100

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

    Genetics in Medicine

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

    Movement Disorders, Vol. 29, Núm. 6, pp. 750-755

2013

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

    Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406

2012

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

    Human Genetics, Vol. 131, Núm. 3, pp. 435-442

  2. α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

    PLoS ONE, Vol. 7, Núm. 12

2011

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

    Parkinsonism and Related Disorders

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

    Movement Disorders, Vol. 26, Núm. 11, pp. 2026-2031