Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. (Q40962089)

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7 March 2020

title

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia (English)

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progressive myoclonus epilepsy

7 March 2020

main subject

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17

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Karen Oliver

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Richard J Smith

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Nathan E Hall

11

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Khalid Mahmood

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Mikko Muona

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Michael S. Hildebrand

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14

Ingrid E Scheffer

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7 March 2020

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Samuel F Berkovic

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7 March 2020

author name string

John A Damiano

1

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Zaid Afawi

2

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Melanie Bahlo

3

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Monika Mauermann

4

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Adel Misk

5

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Todor Arsov

6

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Hans-Henrik M Dahl

8

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A Eliot Shearer

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Richard J Leventer

13

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Harald Herrmann

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Anna-Elina Lehesjoki

16

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language of work or name

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7 May 2015

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7 March 2020

published in

Human Molecular Genetics

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volume

24

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issue

16

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7 March 2020

page(s)

4483-4490

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Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

7 March 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

21 January 2018

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

21 January 2018

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Nuclear lamins and neurobiology

21 January 2018

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Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency.

21 January 2018

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Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neurons

21 January 2018

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Understanding the roles of nuclear A- and B-type lamins in brain development

21 January 2018

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Expression of chicken lamin B2 in Escherichia coli: characterization of its structure, assembly, and molecular interactions

21 January 2018

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The role of the head and tail domain in lamin structure and assembly: analysis of bacterially expressed chicken lamin A and truncated B2 lamins

21 January 2018

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Characterization of the head-to-tail overlap complexes formed by human lamin A, B1 and B2 "half-minilamin" dimers

21 January 2018

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The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription

21 January 2018

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Lamin B1 duplications cause autosomal dominant leukodystrophy

21 January 2018

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Local translation of extranuclear lamin B promotes axon maintenance

21 January 2018

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Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

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A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

21 January 2018

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Generating linkage mapping files from Affymetrix SNP chip data

21 January 2018

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

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Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

21 January 2018

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

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Improving SNP discovery by base alignment quality

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

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

21 January 2018

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Identification of a novel, highly variable amino-terminal amino acid sequence element in the nuclear intermediate filament protein lamin B(2) from higher vertebrates

21 January 2018

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Vimentin coil 1A-A molecular switch involved in the initiation of filament elongation

21 January 2018

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Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study

21 January 2018

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The nuclear lamina is a meshwork of intermediate-type filaments

21 January 2018

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LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging.

21 January 2018

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12 December 2020

Isolation, characterization, and in vitro assembly of intermediate filaments.

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Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene

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Solubility properties and specific assembly pathways of the B-type lamin from Caenorhabditis elegans

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDV171

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25954030%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

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7 March 2020

PubMed publication ID

25954030

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25954030%20AND%20SRC:MED&resulttype=core&format=json