M. Sanchez-Contreras

发表

Genetics of FTLD: overview and what else we can expect from genetic studies

R. Rademakers, C. Pottier, T. Ravenscroft, 2016, Journal of neurochemistry.

Ogg1 null mice exhibit age-associated loss of the nigrostriatal pathway and increased sensitivity to MPTP

F. Cardozo-Pelaez, M. Sanchez-Contreras, Andrew B. C. Nevin, 2012, Neurochemistry International.

A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study.

V. Sossi, B. Boeve, D. Dickson, 2014, Parkinsonism & related disorders.

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration

D. Dickson, M. Heckman, Z. Wszolek, 2017, Movement disorders : official journal of the Movement Disorder Society.

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

G. Schellenberg, D. Serie, L. Petrucelli, 2018, Molecular Neurodegeneration.

Tremor in progressive supranuclear palsy.

M. Murray, D. Dickson, R. Uitti, 2016, Parkinsonism & related disorders.

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy.

D. Dickson, Z. Wszolek, R. Rademakers, 2017, Parkinsonism & related disorders.

Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories

D. Dickson, Z. Wszolek, P. Tacik, 2015, Neurodegenerative Diseases.

A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease

O. Pedraza, D. Dickson, Z. Wszolek, 2015, Journal of neuropathology and experimental neurology.

Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology

D. Dickson, Z. Wszolek, M. Baker, 2014, Human mutation.

The multi-tissue landscape of somatic mtDNA mutations indicates tissue-specific accumulation and removal in aging

Brendan F. Kohrn, Scott R. Kennedy, P. Rabinovitch, 2022, bioRxiv.

APOE ε2 is associated with increased tau pathology in primary tauopathy

L. Petrucelli, M. Murray, D. Dickson, 2018, Nature Communications.

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Julie C. Sapp, L. Biesecker, J. Johnston, 2015, American journal of human genetics.

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

D. Dickson, J. Allanson, M. Hutton, 2014, neurogenetics.

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Owen A. Ross, Dennis W. Dickson, A. Jon Stoessl, 2013, neurogenetics.

The Complicated Nature of Somatic mtDNA Mutations in Aging

Scott R. Kennedy, S. Kennedy, M. Sanchez-Contreras, 2022, Frontiers in Aging.

Oxidative Stress Is Not a Major Contributor to Somatic Mitochondrial DNA Mutations

Scott R. Kennedy, L. Pallanck, F. Cardozo-Pelaez, 2014, PLoS genetics.

A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA

Elizabeth K. Schmidt, Brendan F. Kohrn, Scott R. Kennedy, 2021, Nucleic acids research.

APOE ε2 is associated with increased tau pathology in primary tauopathy

L. Petrucelli, M. Murray, D. Dickson, 2018, Nature Communications.

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

G. Schellenberg, D. Serie, L. Petrucelli, 2018, Molecular Neurodegeneration.

A mutational gradient drives somatic mutation accumulation in mitochondrial DNA and influences germline polymorphisms and genome composition

Elizabeth K. Schmidt, Brendan F. Kohrn, Scott R. Kennedy, 2021, bioRxiv.

Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) due to microtubule‐associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy

R. Petersen, M. Murray, J. Parisi, 2017, Neuropathology and applied neurobiology.

Cognitive impairment in progressive supranuclear palsy is associated with tau burden

D. Dickson, R. Uitti, Z. Wszolek, 2017, Movement disorders : official journal of the Movement Disorder Society.

Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy

D. Dickson, R. Uitti, Z. Wszolek, 2017, Movement disorders : official journal of the Movement Disorder Society.

Brain calcifications and PCDH12 variants

D. Geschwind, D. Dickson, G. Coppola, 2017, Neurology: Genetics.

F. Cardozo-Pelaez, M. Sanchez-Contreras, F. Cardozo‐Pelaez, 2017, DNA repair.

Relationships between lewy and tau pathologies in 375 consecutive non‐Alzheimer's olfactory bulbs

M. Murray, D. Dickson, M. DeTure, 2018, Movement Disorders.