(Q35538685)

8 August 2017

1 reference

title

Familial frontotemporal dementia: from gene discovery to clinical molecular diagnostics (English)

1 reference

8 August 2017

Familial Frontotemporal Dementia: From Gene Discovery to Clinical Molecular Diagnostics (English)

1 reference

12 March 2024

main subject

frontotemporal dementia

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14500612

12 March 2024

4

John Q Trojanowski

1 reference

8 August 2017

Virginia M-Y Lee

5

1 reference

8 August 2017

Vivianna M. Van Deerlin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14500612

12 March 2024

Lisa H. Gill

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14500612

12 March 2024

Jennifer M. Farmer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14500612

12 March 2024

language of work or name

English

0 references

publication date

1 October 2003

1 reference

8 August 2017

1 reference

8 August 2017

49

1 reference

8 August 2017

1717-1725

1 reference

8 August 2017

10

1 reference

Initial sequencing and analysis of the human genome

8 August 2017

1 reference

28 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1038/35057062

The Sequence of the Human Genome

2

1 reference

Target discovery and validation in the post-genomic era.

12 March 2024

3

1 reference

Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory

12 March 2024

4

1 reference

Association for Molecular Pathology statement. Recommendations for in-house development and operation of molecular diagnostic tests

12 March 2024

5

1 reference

Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders

12 March 2024

6

page(s)

86

publication date

2003

1 reference

Inheritance of frontotemporal dementia

12 March 2024

7

1 reference

Frontotemporal lobar degeneration--tau as a pied piper?

12 March 2024

8

1 reference

The new neuropathology of degenerative frontotemporal dementias

12 March 2024

9

1 reference

Epidemiology and genetics of frontotemporal dementia/Pick's disease.

12 March 2024

10

1 reference

The genetic and pathological classification of familial frontotemporal dementia.

12 March 2024

11

1 reference

12 March 2024

Frontotemporal dementia

12

1 reference

12 March 2024

Inherited dementias

13

1 reference

Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia

12 March 2024

14

1 reference

Relative frequencies of Alzheimer disease, Lewy body, vascular and frontotemporal dementia, and hippocampal sclerosis in the State of Florida Brain Bank

12 March 2024

15

1 reference

Frequency oftau mutations in three series of non-Alzheimer's degenerative dementia

12 March 2024

16

1 reference

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

12 March 2024

17

1 reference

Alzheimer's disease and Parkinson's disease

12 March 2024

18

1 reference

Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders

12 March 2024

19

page(s)

340

publication date

2003

1 reference

The prevalence of frontotemporal dementia

12 March 2024

20

1 reference

12 March 2024

Neurobiology of Aging

21

23

S419

2002

1 reference

Familial aggregation in frontotemporal dementia.

12 March 2024

22

1 reference

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease

12 March 2024

23

1 reference

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

12 March 2024

24

1 reference

Dementia of frontal lobe type

12 March 2024

25

1 reference

Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.

12 March 2024

26

1 reference

Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients

12 March 2024

27

1 reference

Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.

12 March 2024

28

1 reference

Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms

12 March 2024

29

1 reference

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17

12 March 2024

30

1 reference

Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation

12 March 2024

31

1 reference

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.

12 March 2024

32

1 reference

Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.

12 March 2024

33

1 reference

Frontotemporal dementia with novel tau pathology and a Glu342Valtau mutation

12 March 2024

34

1 reference

Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene.

12 March 2024

35

1 reference

A distinct familial presenile dementia with a novel missense mutation in the tau gene

12 March 2024

36

1 reference

The molecular genetics of the tauopathies

12 March 2024

37

1 reference

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

12 March 2024

39

1 reference

Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21.

12 March 2024

40

1 reference

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

12 March 2024

41

1 reference

Neutrophil apoptosis and dysfunction in uremia.

12 March 2024

42

1 reference

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

12 March 2024

43

1 reference

Interaction of tau with the neural plasma membrane mediated by tau's amino-terminal projection domain

12 March 2024

44

1 reference

Tau gene mutations: dissecting the pathogenesis of FTDP-17.

12 March 2024

45

1 reference

Untangling tau-related dementia

12 March 2024

46

1 reference

Tau protein isoforms, phosphorylation and role in neurodegenerative disorders11These authors contributed equally to this work

12 March 2024

47

1 reference

New developments in frontotemporal dementia and parkinsonism linked to chromosome 17.

12 March 2024

48

1 reference

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

12 March 2024

49

1 reference

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

12 March 2024

50

1 reference

Hereditary frontotemporal dementia is linked to chromosome 17q21?q22: A genetic and clinicopathological study of three dutch families

12 March 2024

51

1 reference

A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

12 March 2024

52

1 reference

From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation.

12 March 2024

53

1 reference

Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

12 March 2024

54

1 reference

Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau

12 March 2024

55

1 reference

Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation.

12 March 2024

56

1 reference

Patients + research = result! The role of patients and their interest groups in biomedical research

12 March 2024

57

1 reference

Proof of "disease causing" mutation

12 March 2024

60

1 reference

12 March 2024

61

32

1122

2002

1 reference

Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia

12 March 2024

62

1 reference

Preparing for presymptomatic DNA testing for early onset Alzheimer's disease/cerebral haemorrhage and hereditary Pick disease

12 March 2024

63

1 reference

Molecular genetic testing for adult-onset disorders: the evolving laboratory, physician, patient interface.

12 March 2024

65

1 reference

12 March 2024

Human genome agreements

66

1 reference

Alternative Approaches to Proficiency Testing in Molecular Genetics

12 March 2024

68

1 reference

Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors.

12 March 2024

69

1 reference

Risks and benefits of DNA testing for neurogenetic disorders

12 March 2024

70

1 reference

Consulting the source code: prospects for gene-based medical diagnostics

12 March 2024

72

1 reference

GeneTests-GeneClinics: genetic testing information for a growing audience

12 March 2024

73

1 reference

A consumer charter for genomic services

12 March 2024

74

1 reference

12 March 2024

Identifiers

DOI

10.1373/49.10.1717

1 reference

8 August 2017

1 reference