Cargando…

Exome sequencing in undiagnosed inherited and sporadic ataxias

Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic, inherited and metabolic causes, we used an unbiased whole exome sequencing approach in 35 affected individuals, from 22 randomly selected famil...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2015
Materias:	Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306819/ https://www.ncbi.nlm.nih.gov/pubmed/25497598 http://dx.doi.org/10.1093/brain/awu348

Ejemplares similares

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia
por: Keogh, M. J., et al.
Publicado: (2015)

SPG7 mutations are a common cause of undiagnosed ataxia
por: Pfeffer, Gerald, et al.
Publicado: (2015)

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering
por: Daud, Daniyal, et al.
Publicado: (2015)

Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene
por: Pyle, Angela, et al.
Publicado: (2014)

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB
por: Keogh, Michael J., et al.
Publicado: (2015)

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans
por: Pyle, Angela, et al.
Publicado: (2015)

The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy
por: Bansagi, Boglarka, et al.
Publicado: (2015)

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations
por: Griffin, Helen R., et al.
Publicado: (2014)

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
por: Pfeffer, Gerald, et al.
Publicado: (2014)

Respiratory chain deficiency in nonmitochondrial disease
por: Pyle, Angela, et al.
Publicado: (2015)

Mitochondrial pathology in progressive cerebellar ataxia
por: Bargiela, David, et al.
Publicado: (2015)

Emerging therapies for mitochondrial disorders
por: Nightingale, Helen, et al.
Publicado: (2016)

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2014)

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
por: Neeve, Vivienne C.M., et al.
Publicado: (2013)

ANO10 mutations cause ataxia and coenzyme Q(10) deficiency
por: Balreira, Andrea, et al.
Publicado: (2014)

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution
por: Santibanez-Koref, Mauro, et al.
Publicado: (2019)

Phenotypic variability of TRPV4 related neuropathies
por: Evangelista, Teresinha, et al.
Publicado: (2015)

Exome sequencing in dementia with Lewy bodies
por: Keogh, M J, et al.
Publicado: (2016)

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema
por: Tzoulis, C., et al.
Publicado: (2016)

Exome/Genome Sequencing in Undiagnosed Syndromes
por: Sullivan, Jennifer A., et al.
Publicado: (2023)

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
por: Töpf, Ana, et al.
Publicado: (2021)

The inherited cerebellar ataxias: an update
por: Coarelli, Giulia, et al.
Publicado: (2022)

Antigliadin antibody in sporadic adult ataxia
por: Hamidian, Yaser, et al.
Publicado: (2012)

Circulating cell-free mitochondrial DNA levels in Parkinson’s disease are influenced by treatment
por: Lowes, Hannah, et al.
Publicado: (2020)

Prevalence of neurogenetic disorders in the North of England
por: Bargiela, David, et al.
Publicado: (2015)

Clinical application of exome sequencing in undiagnosed genetic conditions
por: Need, Anna C, et al.
Publicado: (2012)

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy
por: Lewis-Smith, D.J., et al.
Publicado: (2016)

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
por: Lewis-Smith, David, et al.
Publicado: (2016)

Inherited Metabolic Disorders Presenting with Ataxia
por: Silver, Grace, et al.
Publicado: (2020)

The Cost of Living with Inherited Ataxia in Ireland
por: Kelly, Mark J., et al.
Publicado: (2021)

Lipid Dyshomeostasis and Inherited Cerebellar Ataxia
por: Zhao, Jin, et al.
Publicado: (2022)

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
por: Payne, Brendan A I, et al.
Publicado: (2011)

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
por: Marwaha, Shruti, et al.
Publicado: (2022)

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
por: Narita, Kotaro, et al.
Publicado: (2022)

Phenotypic convergence of Menkes and Wilson disease
por: Bansagi, Boglarka, et al.
Publicado: (2016)

RUNX1 Mutations in Inherited and Sporadic Leukemia
por: Bellissimo, Dana C., et al.
Publicado: (2017)

A Rare Phenotype of Inherited Cerebellar Ataxia
por: Raval, Darshankumar M, et al.
Publicado: (2022)

Universal heteroplasmy of human mitochondrial DNA
por: Payne, Brendan A.I., et al.
Publicado: (2013)

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
por: Zhu, Xiaolin, et al.
Publicado: (2015)

Mitochondrial ageing and antiretroviral therapy exposure
por: Payne, BAI, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_0tp8q0srvvginvl4v1469d0jpr