Cargando…

Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A

Detalles Bibliográficos
Autores principales:	Lynch, David S., Wood, Nicholas W., Houlden, Henry
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2016
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988466/ https://www.ncbi.nlm.nih.gov/pubmed/27574708 http://dx.doi.org/10.1212/NXG.0000000000000101

Ejemplares similares

Ketogenic diet reduces Lafora bodies in murine Lafora disease
por: Israelian, Lori, et al.
Publicado: (2020)

Everolimus does not prevent Lafora body formation in murine Lafora disease
por: Mishra, Navin, 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)

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene
por: Sung, Angela R., et al.
Publicado: (2018)

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

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations
por: Monfrini, Edoardo, et al.
Publicado: (2020)

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation
por: Jaffer, Fatima, et al.
Publicado: (2017)

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia
por: Bris, Celine, et al.
Publicado: (2017)

Progressive Myoclonic Epilepsy Due to Lafora Body Disease with a Novel Mutation
por: Israni, Anil V., et al.
Publicado: (2018)

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
por: Sun, Yueqian, et al.
Publicado: (2023)

Lafora Disease: Report of a Rare Entity
por: Al Mufargi, Younis, et al.
Publicado: (2020)

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
por: Bugiardini, Enrico, et al.
Publicado: (2017)

Anti-DPPX encephalitis: prominent nystagmus reflected by extraocular muscle FDG-PET avidity
por: Doherty, Leana, et al.
Publicado: (2017)

Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
por: Tonholo Silva, Thiago Y., et al.
Publicado: (2021)

Electro-clinical features and management of the late stage of Lafora disease
por: d'Orsi, Giuseppe, et al.
Publicado: (2022)

Comorbidities in patients with Unverricht–Lundborg disease (EPM1)
por: Sipilä, Jussi O. T., et al.
Publicado: (2022)

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
por: de Paiva, Anderson Rodrigues Brandão, et al.
Publicado: (2019)

Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family
por: Camargos, Sarah, et al.
Publicado: (2018)

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia
por: Ng, Yi Shiau, et al.
Publicado: (2017)

An empirical pipeline for personalized diagnosis of Lafora disease mutations
por: Brewer, M. Kathryn, et al.
Publicado: (2021)

Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy
por: Komal, F.N.U., et al.
Publicado: (2018)

Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation
por: Yasuda, Rei, et al.
Publicado: (2020)

PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease
por: Turnbull, Julie, et al.
Publicado: (2011)

Thermoreversibly Cross-Linked EPM Rubber Nanocomposites with Carbon Nanotubes
por: Polgar, Lorenzo Massimo, et al.
Publicado: (2018)

The Episodic Prototypes Model (EPM): On the nature and genesis of facial representations
por: Schneider, Tobias Matthias, et al.
Publicado: (2021)

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

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia
por: Masuho, Ikuo, et al.
Publicado: (2016)

Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication
por: Verheyen, Sarah, et al.
Publicado: (2020)

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

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions
por: Dominik, Natalia, et al.
Publicado: (2020)

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

Identification of proteins potentially involved in the formation of Lafora bodies, a hallmark of Lafora disease
por: Schokraie, Elham, et al.
Publicado: (2013)

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family
por: Kojovic, Maja, et al.
Publicado: (2012)

Myelopathy in a patient with leukodystrophy due to CSF1R mutation
por: Ho, Victoria M., et al.
Publicado: (2019)

Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant
por: Paucar, Martin, et al.
Publicado: (2021)

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
por: Saylam, Ezgi, et al.
Publicado: (2019)

A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
por: Thottath, Jineesh, et al.
Publicado: (2019)

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

U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
por: Sferruzza, Giacomo, et al.
Publicado: (2021)

Short‐ and long‐interval intracortical inhibition in EPM1 is related to genotype
por: Silvennoinen, Katri, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_g09ns9sdc4lnknjeclbj1rmsb2