4.7 Review

Deciphering Neurodegenerative Diseases Using Long-Read Sequencing

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

Jianwen Deng et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

Article Genetics & Heredity

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

Yun Tian et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Neurosciences

Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families

Bernardo Machado Dias Domingues et al.

CEREBELLUM (2019)

Article Multidisciplinary Sciences

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark A. Corbett et al.

NATURE COMMUNICATIONS (2019)

Article Multidisciplinary Sciences

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Rahel T. Florian et al.

NATURE COMMUNICATIONS (2019)

Article Genetics & Heredity

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Jason D. Merker et al.

GENETICS IN MEDICINE (2018)

Article Biotechnology & Applied Microbiology

Nanopore sequencing and assembly of a human genome with ultra-long reads

Miten Jain et al.

NATURE BIOTECHNOLOGY (2018)

Article Genetics & Heredity

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Hiroyuki Ishiura et al.

NATURE GENETICS (2018)

Editorial Material Multidisciplinary Sciences

AMYOTROPHIC LATERAL SCLEROSIS

Brian Owens

NATURE (2017)

Article Neurosciences

Parkinson's disease associated with pure ATXN10 repeat expansion

Birgitt Schule et al.

NPJ PARKINSONS DISEASE (2017)

Article Biochemistry & Molecular Biology

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

Valerie Biancalana et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Multidisciplinary Sciences

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

Aaron R. Haeusler et al.

NATURE (2014)

Article Biochemistry & Molecular Biology

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

Patra Yeetong et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Article Biochemistry & Molecular Biology

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

Monique Losekoot et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Article Biochemistry & Molecular Biology

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

Karen N. McFarland et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Article Biochemistry & Molecular Biology

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene

Erick W. Loomis et al.

GENOME RESEARCH (2013)

Article Genetics & Heredity

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

Carolyn M. Yrigollen et al.

GENETICS IN MEDICINE (2012)

Article Genetics & Heredity

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease

Luciana de A. Agostinho et al.

JOURNAL OF HUMAN GENETICS (2012)

Review Genetics & Heredity

Repetitive DNA and next-generation sequencing: computational challenges and solutions

Todd J. Treangen et al.

NATURE REVIEWS GENETICS (2012)

Article Multidisciplinary Sciences

Mutations of optineurin in amyotrophic lateral sclerosis

Hirofumi Maruyama et al.

NATURE (2010)

Article Biochemical Research Methods

Direct detection of DNA methylation during single-molecule, real-time sequencing

Benjamin A. Flusberg et al.

NATURE METHODS (2010)

Article Nanoscience & Nanotechnology

Continuous base identification for single-molecule nanopore DNA sequencing

James Clarke et al.

NATURE NANOTECHNOLOGY (2009)

Article Multidisciplinary Sciences

Real-Time DNA Sequencing from Single Polymerase Molecules

John Eid et al.

SCIENCE (2009)

Article Multidisciplinary Sciences

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

T. J. Kwiatkowski et al.

SCIENCE (2009)

Article Multidisciplinary Sciences

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

Jemeen Sreedharan et al.

SCIENCE (2008)

Article Multidisciplinary Sciences

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Manuela Neumann et al.

SCIENCE (2006)

Article Genetics & Heredity

Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates

S Jacquemont et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Genetics & Heredity

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

T Matsuura et al.

NATURE GENETICS (2000)