(Q44258509)

1 December 2017

title

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease (English)

1 reference

1 December 2017

12

1 reference

1 December 2017

13

G A Rouleau

1 reference

1 December 2017

M Cadieux-Dion

1

1 reference

1 December 2017

E Andermann

2

1 reference

1 December 2017

P Lachance-Touchette

3

1 reference

1 December 2017

O Ansorge

4

1 reference

1 December 2017

C Meloche

5

1 reference

1 December 2017

A Barnabé

6

1 reference

1 December 2017

R I Kuzniecky

7

1 reference

1 December 2017

F Andermann

8

1 reference

1 December 2017

E Faught

9

1 reference

1 December 2017

S Leonberg

10

1 reference

1 December 2017

J A Damiano

11

1 reference

1 December 2017

P Cossette

14

1 reference

1 December 2017

publication date

7 November 2012

1 reference

1 December 2017

1 reference

1 December 2017

volume

83

1 reference

1 December 2017

issue

6

1 reference

1 December 2017

page(s)

571-575

1 reference

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

1 December 2017

cites work

1 reference

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

21 January 2018

1 reference

A dominant form of neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama

21 January 2018

1 reference

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

21 January 2018

1 reference

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

21 January 2018

1 reference

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

21 January 2018

1 reference

Cysteine string proteins: a potential link between synaptic vesicles and presynaptic Ca2+ channels

21 January 2018

1 reference

Tandem MS analysis of brain clathrin-coated vesicles reveals their critical involvement in synaptic vesicle recycling

21 January 2018

1 reference

Dual role of the cysteine-string domain in membrane binding and palmitoylation-dependent sorting of the molecular chaperone cysteine-string protein.

21 January 2018

1 reference

Alpha-synuclein cooperates with CSPalpha in preventing neurodegeneration

21 January 2018

1 reference

CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity.

21 January 2018

1 reference

The synaptic vesicle protein CSP alpha prevents presynaptic degeneration.

21 January 2018

1 reference

CSPalpha-deficiency causes massive and rapid photoreceptor degeneration

21 January 2018

1 reference

Cysteine string protein-alpha prevents activity-dependent degeneration in GABAergic synapses.

21 January 2018

1 reference

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

21 January 2018

1 reference

CSPalpha: the neuroprotective J protein

21 January 2018

1 reference

Cell biology of protein misfolding: the examples of Alzheimer's and Parkinson's diseases

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12020

1 reference

1 December 2017

1 reference