Cargando…

Is PARKIN parkinsonism a cancer predisposition syndrome?

Detalles Bibliográficos
Autores principales:	Schüle, Birgitt, Byrne, Christie, Rees, Linda, Langston, J. William
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2015
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811379/ https://www.ncbi.nlm.nih.gov/pubmed/27066568 http://dx.doi.org/10.1212/NXG.0000000000000031

Ejemplares similares

Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?
por: Breen, David P., et al.
Publicado: (2020)

Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency
por: Eis, Peggy S., et al.
Publicado: (2020)

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation
por: Tüngler, Victoria, et al.
Publicado: (2019)

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1
por: Xiao, Changrui, et al.
Publicado: (2021)

Parkinson’s disease associated with pure ATXN10 repeat expansion
por: Schüle, Birgitt, et al.
Publicado: (2017)

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations
por: Lynch, David S., et al.
Publicado: (2017)

Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK
por: Vandenberghe, Wim, et al.
Publicado: (2021)

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis
por: Mallett, Victoria, et al.
Publicado: (2016)

Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A
por: Lynch, David S., et al.
Publicado: (2016)

Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele
por: Kirby, Alana E., et al.
Publicado: (2021)

Discovery of functional non-coding conserved regions in the α-synuclein gene locus
por: Sterling, Lori, et al.
Publicado: (2014)

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease
por: Lesage, Suzanne, et al.
Publicado: (2015)

Gerstmann-Sträussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism
por: Baiardi, Simone, et al.
Publicado: (2020)

NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
por: Jesús, Silvia, et al.
Publicado: (2021)

Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report
por: Ashton, Catherine, et al.
Publicado: (2023)

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
por: Hoshino, Kyoko, et al.
Publicado: (2021)

Aquaporin-4 IgG autoimmune syndrome and immunoreactivity associated with thyroid cancer
por: Soelberg, Kerstin, et al.
Publicado: (2016)

Nicolau Syndrome After Glatiramer Acetate Injection in Close Proximity to Administration of SARS-CoV-2 mRNA Vaccine
por: Sy, Michael Yu, et al.
Publicado: (2021)

A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism
por: Baviera-Muñoz, Raquel, et al.
Publicado: (2021)

Loss of iron triggers PINK1/Parkin-independent mitophagy
por: Allen, George F G, et al.
Publicado: (2013)

Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers
por: Bewley, Alice F., et al.
Publicado: (2022)

A case of CLIPPERS syndrome responsive to tocilizumab
por: Rempe, Torge, et al.
Publicado: (2019)

USP30 deubiquitylates mitochondrial Parkin substrates and restricts apoptotic cell death
por: Liang, Jin-Rui, et al.
Publicado: (2015)

Double somatic mosaicism in a child with Dravet syndrome
por: Muir, Alison M., et al.
Publicado: (2019)

Galloping tongue syndrome in a PRRT2 mutation carrier
por: Vilas, Dolores, et al.
Publicado: (2019)

Vogt-Koyanagi-Harada syndrome: A novel case and brief review of focal neurologic presentations
por: Sheriff, Faheem, et al.
Publicado: (2014)

Earlier treatment of NMDAR antibody encephalitis in children results in a better outcome
por: Byrne, Susan, et al.
Publicado: (2015)

A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome
por: Hanes, Ilana, et al.
Publicado: (2020)

Incomplete Susac syndrome exacerbated after natalizumab
por: Zhovtis Ryerson, Lana, et al.
Publicado: (2015)

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome
por: Botha, Hugo, et al.
Publicado: (2017)

Unusual neurologic presentation of aseptic abscesses syndrome
por: Nicolas, Philippe, et al.
Publicado: (2018)

Balint syndrome in anti-NMDA receptor encephalitis
por: Metzger, Aude, et al.
Publicado: (2018)

Multiple sequential antibody-associated syndromes with a recurrent mutated neuroblastoma
por: Amini, Ali, et al.
Publicado: (2016)

Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome
por: King, Katherine Abell, et al.
Publicado: (2022)

Myelodysplastic syndrome with progressive multifocal predominantly pontine demyelination
por: Bhattacharyya, Shamik, et al.
Publicado: (2015)

Elsberg Syndrome Secondary to Cytomegalovirus Infection in an Immunocompetent Patient: A Case Report
por: Lefeuvre, Lucie, et al.
Publicado: (2022)

Amphiphysin-positive paraneoplastic myelitis and stiff-person syndrome
por: Faissner, Simon, et al.
Publicado: (2016)

MOG antibodies in combined central and peripheral demyelination syndromes
por: Vazquez Do Campo, Rocio, et al.
Publicado: (2018)

Guillain-Barré syndrome related to COVID-19 infection
por: Alberti, Paola, et al.
Publicado: (2020)

Neuroimmunology of OMS and ANNA-1/anti-Hu paraneoplastic syndromes in a child with neuroblastoma
por: Pranzatelli, Michael R., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_eeollnj0uspeuj782l31p6jh3g