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。Are the UK genetic testing criteria for dementia too exclusive?
Annita Christodoulidou et al.
JOURNAL OF NEUROLOGY (2021)
Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing
Jill S. Goldman et al.
MOLECULAR DIAGNOSIS & THERAPY (2018)
Novel valosin-containing protein mutations associated with multisystem proteinopathy
Sejad Al-Tahan et al.
NEUROMUSCULAR DISORDERS (2018)
A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction
Ana Lopez et al.
BRAIN (2017)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Distinct neurological disorders with C9orf72 mutations: genetics, pathogenesis, and therapy
Song Chi et al.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
The behavioural/dysexecutive variant of Alzheimer's disease: clinical, neuroimaging and pathological features
Rik Ossenkoppele et al.
BRAIN (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Axel Freischmidt et al.
NATURE NEUROSCIENCE (2015)
Phenotypic heterogeneity of monogenic frontotemporal dementia
Alberto Benussi et al.
FRONTIERS IN AGING NEUROSCIENCE (2015)
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Pietro Fratta et al.
ACTA NEUROPATHOLOGICA (2013)
Familial Dementia With Frontotemporal Features Associated With M146V Presenilin-1 Mutation
Miguel A. Riudavets et al.
BRAIN PATHOLOGY (2013)
The Presenilin 1 P264L Mutation Presenting as non-Fluent/Agrammatic Primary Progressive Aphasia
Colin J. Mahoney et al.
JOURNAL OF ALZHEIMERS DISEASE (2013)
Association between repeat sizes and clinical and pathological characteristics in carriers of C90RF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
Marka van Blitterswijk et al.
LANCET NEUROLOGY (2013)
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
Marka van Blitterswijk et al.
NEUROLOGY (2013)
Variant of TREM2 Associated with the Risk of Alzheimer's Disease
Thorlakur Jonsson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
TREM2 Variants in Alzheimer's Disease
Rita Guerreiro et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
New Approaches to Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Degeneration
Jill S. Goldman
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2012)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie et al.
LANCET NEUROLOGY (2012)
Advances in understanding the molecular basis of frontotemporal dementia
Rosa Rademakers et al.
NATURE REVIEWS NEUROLOGY (2012)
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
Carol Dobson-Stone et al.
NEUROLOGY (2012)
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Elisa Rubino et al.
NEUROLOGY (2012)
Repeat Expansion in C9ORF72 in Alzheimer's Disease
Elisa Majounie et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
Melissa E. Murray et al.
ACTA NEUROPATHOLOGICA (2011)
Mutational analysis of TARDBP in neurodegenerative diseases
Nicola Ticozzi et al.
NEUROBIOLOGY OF AGING (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD
Emilie Tresse et al.
AUTOPHAGY (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Genetic contribution of FUS to frontotemporal lobar degeneration
T. Van Langenhove et al.
NEUROLOGY (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V)
A. Robles et al.
AMERICAN JOURNAL OF ALZHEIMERS DISEASE AND OTHER DEMENTIAS (2009)
TARDBP Mutations in Motoneuron Disease with Frontotemporal Lobar Degeneration
Lina Benajiba et al.
ANNALS OF NEUROLOGY (2009)
Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia
Livia Bernardi et al.
NEUROBIOLOGY OF AGING (2009)
The heritability and genetics of frontotemporal lobar degeneration
J. D. Rohrer et al.
NEUROLOGY (2009)
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study
Isabelle Le Ber et al.
BRAIN (2008)
Novel Mutations in TARDBP(TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis
Nicola J. Rutherford et al.
PLOS GENETICS (2008)
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Matt Baker et al.
NATURE (2006)
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
Marc Cruts et al.
NATURE (2006)
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
G Skibinski et al.
NATURE GENETICS (2005)
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
GDJ Watts et al.
NATURE GENETICS (2004)
分享论文
