Role of Niemann-Pick Type C Disease Mutations in Dementia. (Q52964979)

9 May 2018

http://europepmc.org/abstract/MED/27792009

title

Role of Niemann-Pick Type C Disease Mutations in Dementia. (English)

1 reference

9 May 2018

http://europepmc.org/abstract/MED/27792009

author

Chiara Cupidi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Rosanna Colao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Nicoletta Smirne

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

18

Milena Romanello

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

21

Amalia Cecilia Bruni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

7

Maria Anfossi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

15

Gianfranco Puccio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

6

Livia Bernardi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Francesca Frangipane

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Maura Gallo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Alessandra Clodomiro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Maria Elena Conidi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Franca Vasso

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Sabrina Anna Maria Curcio

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Maria Mirabelli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Giusi Torchia

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Maria Gabriella Muraca

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Raffaele Di Lorenzo

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Stefania Zampieri

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Andrea Dardis

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Raffaele Giovanni Maletta

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

publication date

24 October 2016

1 reference

9 May 2018

http://europepmc.org/abstract/MED/27792009

published in

Journal of Alzheimer's Disease

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

1249-1259

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

3 June 2020

cites work

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

The diagnosis of young-onset dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

A clinical approach to early-onset inheritable dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

The link between the GBA gene and parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Bidirectional links between Alzheimer's disease and Niemann-Pick type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

The adult form of Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

The NP-C gene: a key to pathways of intracellular cholesterol transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Long-term miglustat therapy in children with Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-Pick disease type C

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Disease and patient characteristics in NP-C patients: findings from an international disease registry

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Classification of primary progressive aphasia and its variants

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Criteria for the diagnosis of corticobasal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

The Mental Deterioration Battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The Group for the Standardization of the Mental Deterioration Battery

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Tau is a candidate gene for chromosome 17 frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Genetic background predicts poor prognosis in frontotemporal lobar degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Heterozygous Niemann-Pick disease type C presenting with tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-Pick type C disease in a 68-year-old patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Niemann-Pick Type C disease and Alzheimer's disease: the APP-endosome connection fattens up.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Mutations in Niemann Pick type C gene are risk factor for Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Neurodegeneration in heterozygous Niemann-Pick type C1 (NPC1) mouse: implication of heterozygous NPC1 mutations being a risk for tauopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

The effects of APOE and tau gene variability on risk of frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.3233%2FJAD-160214

21 January 2018

Identifiers

DOI

10.3233/JAD-160214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27792009%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference