(Q47330404)

17 June 2018

title

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases (English)

1 reference

17 June 2018

1 reference

45

Matthis Synofzik

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Ewa Pronicka

55

Ewa Pronicka

1 reference

Katarzyna Iwanicka-Pronicka

17 June 2018

Magdalena Pajdowska

33

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Katarzyna Iwanicka-Pronicka

2

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Joanna Trubicka

Joanna Trubicka

47

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Holger Prokisch

Holger Prokisch

53

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Robert William Taylor

46

Robert W Taylor

1 reference

17 June 2018

Frank Rutsch

38

Frank Rutsch

1 reference

17 June 2018

Karin Naess

Karin Naess

31

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Ron A. Wevers

Ron A Wevers

56

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author name string

Roeltje R Maas

1

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17 June 2018

Sema Kalkan Ucar

3

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17 June 2018

Bader Alhaddad

4

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17 June 2018

Moeenaldeen AlSayed

5

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17 June 2018

Mohammed A Al-Owain

6

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17 June 2018

Hamad I Al-Zaidan

7

1 reference

17 June 2018

Shanti Balasubramaniam

8

1 reference

17 June 2018

Ivo Barić

9

1 reference

17 June 2018

Dalal K Bubshait

10

1 reference

17 June 2018

Alberto Burlina

11

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17 June 2018

John Christodoulou

12

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17 June 2018

Wendy K Chung

13

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17 June 2018

Roberto Colombo

14

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17 June 2018

Niklas Darin

15

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17 June 2018

Peter Freisinger

16

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17 June 2018

Maria Teresa Garcia Silva

17

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17 June 2018

Stephanie Grunewald

18

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17 June 2018

Tobias B Haack

19

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17 June 2018

Peter M van Hasselt

20

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17 June 2018

Omar Hikmat

21

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17 June 2018

Friederike Hörster

22

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17 June 2018

Pirjo Isohanni

23

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17 June 2018

Khushnooda Ramzan

24

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17 June 2018

Reka Kovacs-Nagy

25

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17 June 2018

Zita Krumina

26

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17 June 2018

Elena Martin-Hernandez

27

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17 June 2018

Johannes A Mayr

28

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17 June 2018

Patricia McClean

29

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17 June 2018

Linda De Meirleir

30

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17 June 2018

Lock H Ngu

32

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17 June 2018

Shamima Rahman

34

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17 June 2018

Gillian Riordan

35

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17 June 2018

Lisa Riley

36

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17 June 2018

Benjamin Roeben

37

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17 June 2018

Rene Santer

39

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17 June 2018

Manuel Schiff

40

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17 June 2018

Martine Seders

41

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17 June 2018

Silvia Sequeira

42

1 reference

17 June 2018

Wolfgang Sperl

43

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17 June 2018

Christian Staufner

44

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17 June 2018

Konstantinos Tsiakas

48

1 reference

17 June 2018

Ozlem Unal

49

1 reference

17 June 2018

Evangeline Wassmer

50

1 reference

17 June 2018

Yehani Wedatilake

51

1 reference

17 June 2018

Toni Wolff

52

1 reference

17 June 2018

Eva Morava

54

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17 June 2018

Arjan P de Brouwer

57

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17 June 2018

Saskia B Wortmann

58

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17 June 2018

publication date

1 December 2017

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17 June 2018

published in

Annals of Neurology

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17 June 2018

volume

82

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17 June 2018

issue

6

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17 June 2018

page(s)

1004-1015

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17 June 2018

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

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1 reference

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Analysis of protein-coding genetic variation in 60,706 humans

18 June 2018

1 reference

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Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

A neurocognitive perspective on language: the declarative/procedural model

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Phospholipid synthesis in a membrane fraction associated with mitochondria

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

18 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

MEGDEL Syndrome: Expanding the Phenotype and New Mutations.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Mitochondrial dysfunction as a cause of axonal degeneration in multiple sclerosis patients.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5847115

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29205472

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.25110

1 reference

17 June 2018

PMCID

5847115

1 reference

17 June 2018

PubMed ID

29205472

1 reference

17 June 2018