(Q35599514)

9 August 2017

Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). (English)

1 reference

juvenile neuronal ceroid lipofuscinosis

9 August 2017

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author name string

J M Kwon

1

1 reference

9 August 2017

H Adams

2

1 reference

9 August 2017

P G Rothberg

3

1 reference

9 August 2017

E F Augustine

4

1 reference

9 August 2017

F J Marshall

5

1 reference

9 August 2017

E A Deblieck

6

1 reference

9 August 2017

A Vierhile

7

1 reference

9 August 2017

C A Beck

8

1 reference

9 August 2017

N J Newhouse

9

1 reference

9 August 2017

J Cialone

10

1 reference

9 August 2017

E Levy

11

1 reference

9 August 2017

D Ramirez-Montealegre

12

1 reference

9 August 2017

L S Dure

13

1 reference

9 August 2017

K R Rose

14

1 reference

9 August 2017

J W Mink

15

1 reference

9 August 2017

language of work or name

English

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publication date

19 October 2011

1 reference

9 August 2017

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9 August 2017

77

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9 August 2017

20

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9 August 2017

1801-1807

1 reference

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Splicing in disease: disruption of the splicing code and the decoding machinery

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

CLN3, the protein associated with batten disease: structure, function and localization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Current state of clinical and morphological features in human NCL.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Molecular genetic testing for neuronal ceroid lipofuscinoses

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Rate of functional decline in Huntington's disease. Huntington Study Group

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Spectrum of mutations in the Batten disease gene, CLN3

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Longitudinal analysis of regional grey matter loss in Huntington disease: effects of the length of the expanded CAG repeat.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

A clinical rating scale for Batten disease: reliable and relevant for clinical trials

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3233207

Can focusing on UPDRS Part II make assessments of Parkinson disease progression more efficient?

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22013180

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The evolution of disability in Parkinson disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22013180

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E318237F649

1 reference

9 August 2017

1 reference

9 August 2017

1 reference