Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features (Q21261404)

17 August 2022

17

Stefan Kääb

Stefan

Kääb

1 reference

17 August 2022

15

Arne Pfeufer

Arne

Pfeufer

1 reference

17 August 2022

23

Juliane Winkelmann

Juliane

Winkelmann

1 reference

17 August 2022

20

Peter Lichtner

Peter

Lichtner

1 reference

17 August 2022

2

Barbara Schormair

Barbara

Schormair

1 reference

17 August 2022

21

Claudia Trenkwalder

Claudia

Trenkwalder

1 reference

17 August 2022

22

Konrad Oexle

Konrad

Oexle

1 reference

17 August 2022

Friedrich Zimprich

13

Friedrich

Zimprich

1 reference

17 August 2022

Wolfram Kunz

12

Wolfram

Kunz

1 reference

17 August 2022

Rolf-Detlef Treede

8

Rolf-Detlef

Treede

1 reference

17 August 2022

Franziska Hopfner

1

Franziska

Hopfner

2 references

ORCID Public Data File 2021

17 August 2022

10

Claudia

Sommer

Claudia Sommer

2 references

ORCID Public Data File 2021

17 August 2022

Franziska Knauf

3

Franziska

Knauf

1 reference

17 August 2022

Achim Berthele

4

Achim

Berthele

1 reference

17 August 2022

Thomas R Tölle

5

Thomas R

Tölle

1 reference

17 August 2022

Ralf Baron

6

Ralf

Baron

1 reference

17 August 2022

Christoph Maier

7

Christoph

Maier

1 reference

17 August 2022

Andreas Binder

9

Andreas

Binder

1 reference

17 August 2022

Christian Maihöfner

11

Christian

Maihöfner

1 reference

17 August 2022

Uwe Heemann

14

Uwe

Heemann

1 reference

17 August 2022

Michael Näbauer

16

Michael

Näbauer

1 reference

17 August 2022

Barbara Nowak

18

Barbara

Nowak

1 reference

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

17 August 2022

language of work or name

English

0 references

publication date

2011

0 references

published in

BMC Neurology

0 references

volume

11

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issue

1

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page(s)

134

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

Cloning, sequencing, and expression of a cDNA encoding rat LIMP II, a novel 74-kDa lysosomal membrane protein related to the surface adhesion protein CD36

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

KORA-gen--resource for population genetics, controls and a broad spectrum of disease phenotypes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

Progressive myoclonus epilepsy. A clinical and histopathological study.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222607

Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-134

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-134

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-134

Seizures, ataxia, and neuronal loss in cystatin B heterozygous mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-134

[Familial myoclonus-renal failure syndrome]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22032306

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2377-11-134

0 references