(Q46732385)

24 December 2017

title

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation (English)

1 reference

24 December 2017

North Sea progressive myoclonus epilepsy

main subject

0 references

author

Jozef Gécz

24

1 reference

24 December 2017

Samuel Berkovic

26

1 reference

24 December 2017

John O'Sullivan

object named as

John D O'Sullivan

11

0 references

Anna-Elina Lehesjoki

21

object named as

Anna-Elina Lehesjoki

1 reference

24 December 2017

13

Bastiaan R Bloem

1 reference

24 December 2017

25

Leanne M Dibbens

1 reference

24 December 2017

author name string

Lysa Boissé Lomax

1

1 reference

24 December 2017

Marta A Bayly

2

1 reference

24 December 2017

Helle Hjalgrim

3

1 reference

24 December 2017

Rikke S Møller

4

1 reference

24 December 2017

Annemarie M Vlaar

5

1 reference

24 December 2017

Kari M Aaberg

6

1 reference

24 December 2017

Iris Marquardt

7

1 reference

24 December 2017

Luke C Gandolfo

8

1 reference

24 December 2017

Michèl Willemsen

9

1 reference

24 December 2017

Erik-Jan Kamsteeg

10

1 reference

24 December 2017

G Christoph Korenke

12

1 reference

24 December 2017

Irenaeus F de Coo

14

1 reference

24 December 2017

Judith M A Verhagen

15

1 reference

24 December 2017

Ines Said

16

1 reference

24 December 2017

Trine Prescott

17

1 reference

24 December 2017

Asbjørg Stray-Pedersen

18

1 reference

24 December 2017

Magnhild Rasmussen

19

1 reference

24 December 2017

Danya F Vears

20

1 reference

24 December 2017

Mark A Corbett

22

1 reference

24 December 2017

Melanie Bahlo

23

1 reference

24 December 2017

language of work or name

English

0 references

publication date

28 February 2013

1 reference

24 December 2017

number of pages

9

1 reference

based on heuristic

inferred from page(s)

published in

Brain

1 reference

24 December 2017

volume

136

1 reference

24 December 2017

issue

Pt 4

1 reference

24 December 2017

page(s)

1146-1154

1 reference

24 December 2017

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Progressive myoclonus epilepsies: specific causes and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Long-term evolution of EEG in Unverricht-Lundborg disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Clinical picture of EPM1-Unverricht-Lundborg disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

A SNARE involved in protein transport through the Golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Vertebrate segmentation: from cyclic gene networks to scoliosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

22-year-old girl with status epilepticus and progressive neurological symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

Mutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral Neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT021

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWT021

1 reference

24 December 2017

1 reference

24 December 2017