(Q36451472)

14 August 2017

0 references

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia (English)

1 reference

14 August 2017

Jeremy Schwartzentruber

14

Jeremy Schwartzentruber

0 references

Annette Schenck

Annette Schenck

38

0 references

Riad Bayoumi

Riad Bayoumi

20

0 references

Bassam R. Ali

Bassam R Ali

16

0 references

Christian Gilissen

Christian Gilissen

24

0 references

Joris A Veltman

Joris A Veltman

25

0 references

Martin Lammens

Martin Lammens

34

0 references

Sascha Vermeer

11

Sascha Vermeer

1 reference

14 August 2017

39

Lihadh Al-Gazali

1 reference

14 August 2017

36

Han G Brunner

1 reference

14 August 2017

33

Lisenka E L M Vissers

1 reference

14 August 2017

3

Erik-Jan Kamsteeg

1 reference

14 August 2017

Michèl A A P Willemsen

32

Michèl A Willemsen

1 reference

14 August 2017

29

Dirk J Lefeber

1 reference

Anneke T Vulto-van Silfhout

14 August 2017

27

Anneke T Vulto-van Silfhout

1 reference

14 August 2017

41

Arjan P M de Brouwer

1 reference

14 August 2017

23

Willem M R van den Akker

1 reference

14 August 2017

31

Corrie E Erasmus

1 reference

Janneke H M Schuurs-Hoeijmakers

14 August 2017

1

Janneke H M Schuurs-Hoeijmakers

1 reference

Ilse I G M van de Vondervoort

14 August 2017

7

Ilse I G M van de Vondervoort

1 reference

14 August 2017

Bart van de Warrenburg

22

Bart P van de Warrenburg

1 reference

14 August 2017

15

FORGE Canada Consortium

1 reference

14 August 2017

40

Bert B A de Vries

1 reference

14 August 2017

35

Hans van Bokhoven

1 reference

14 August 2017

26

Irene M Janssen

1 reference

14 August 2017

37

Ron A Wevers

1 reference

14 August 2017

Michael T Geraghty

2

1 reference

14 August 2017

Salma Ben-Salem

4

1 reference

14 August 2017

Susanne T de Bot

5

1 reference

14 August 2017

Bonnie Nijhof

6

1 reference

14 August 2017

Marinette van der Graaf

8

1 reference

14 August 2017

Anna Castells Nobau

9

1 reference

14 August 2017

Irene Otte-Höller

10

1 reference

14 August 2017

Amanda C Smith

12

1 reference

14 August 2017

Peter Humphreys

13

1 reference

14 August 2017

Saeed A Al-Yahyaee

17

1 reference

14 August 2017

Said Tariq

18

1 reference

14 August 2017

Thachillath Pramathan

19

1 reference

14 August 2017

Hubertus P H Kremer

21

1 reference

14 August 2017

Saskia van der Velde-Visser

28

1 reference

14 August 2017

Adinda Diekstra

30

1 reference

14 August 2017

language of work or name

English

0 references

publication date

21 November 2012

1 reference

American Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

91

1 reference

14 August 2017

1073-1081

1 reference

14 August 2017

6

1 reference

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

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Genetics of hereditary spastic paraplegias

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Hereditary spastic paraplegias: membrane traffic and the motor pathway

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

The BMP signaling pathway at the Drosophila neuromuscular junction and its links to neurodegenerative diseases.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

The active zone T-bar--a plasticity module?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Intracellular phospholipase A1gamma (iPLA1gamma) is a novel factor involved in coat protein complex I- and Rab6-independent retrograde transport between the endoplasmic reticulum and the Golgi complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Drosophila larval neuromuscular junction: molecular components and mechanisms underlying synaptic plasticity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

p125 is a novel mammalian Sec23p-interacting protein with structural similarity to phospholipid-modifying proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Drosophila Acyl-CoA synthetase long-chain family member 4 regulates axonal transport of synaptic vesicles and is required for synaptic development and transmission.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

A de novo paradigm for mental retardation.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516595

Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23176823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23176823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23176823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.10.017

1 reference

14 August 2017

1 reference

14 August 2017

1 reference