Novel CLN3 mutation causing autophagic vacuolar myopathy (Q33987153)

30 July 2017

Novel CLN3 mutation causing autophagic vacuolar myopathy. (English)

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Autophagic vacuolar myopathy

30 July 2017

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19

John Hardy

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30 July 2017

Ivana Ricca

10

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Michela Ripolone

Michela Ripolone

15

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Pietro Fratta

Pietro Fratta

5

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Alan Pittman

Alan Pittman

11

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Cristina Cereda

Cristina Cereda

8

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Sara E. Mole

Sara E Mole

18

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Gigliola Fagiolari

17

Gigliola Fagiolari

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30 July 2017

21

Maurizio Moggio

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30 July 2017

20

Arrigo Moglia

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30 July 2017

12

Patrizia Ciscato

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30 July 2017

Andrea Cortese

1

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30 July 2017

Arianna Tucci

2

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30 July 2017

Giovanni Piccolo

3

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30 July 2017

Carlo A Galimberti

4

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30 July 2017

Enrico Marchioni

6

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30 July 2017

Gianpiero Grampa

7

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30 July 2017

Gaetano Grieco

9

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30 July 2017

Laura Napoli

13

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30 July 2017

Valeria Lucchini

14

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30 July 2017

Raffaella Violano

16

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30 July 2017

language of work or name

English

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publication date

14 May 2014

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30 July 2017

5

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based on heuristic

inferred from page(s)

published in

Neurology

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30 July 2017

82

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30 July 2017

2072-2076

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30 July 2017

23

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30 July 2017

Human pathology in NCL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

RETRACTED: VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

Autophagic vacuolar myopathy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

Spectrum of mutations in the Batten disease gene, CLN3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

Lack of apoptosis in mitochondrial encephalomyopathies

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4118497

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24827497

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000000490

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30 July 2017

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30 July 2017

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