(Q37477352)

20 August 2017

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum (English)

1 reference

20 August 2017

1 reference

12

Ludger Schöls

1 reference

20 August 2017

1

Matthis Synofzik

0 references

Marie Coutelier

Marie Coutelier

4

0 references

Giovanni Stevanin

Giovanni Stevanin

16

0 references

Holger Prokisch

Holger Prokisch

9

0 references

Alexandra Durr

11

Alexandra Durr

1 reference

20 August 2017

15

Rebecca Schüle

1 reference

20 August 2017

18

Stephan Züchner

1 reference

20 August 2017

7

Didier Hannequin

1 reference

20 August 2017

Wilson Marques Júnior

17

Wilson Marques

1 reference

20 August 2017

5

Tobias B Haack

1 reference

20 August 2017

6

Adriana Rebelo

1 reference

20 August 2017

8

Tim M Strom

1 reference

20 August 2017

Michael A Gonzalez

2

1 reference

20 August 2017

Charles Marques Lourenco

3

1 reference

20 August 2017

Christoph Kernstock

10

1 reference

20 August 2017

Marcos M Lima-Martínez

13

1 reference

20 August 2017

Amjad Farooq

14

1 reference

20 August 2017

language of work or name

English

0 references

publication date

19 December 2013

1 reference

20 August 2017

1 reference

20 August 2017

137

1 reference

20 August 2017

Pt 1

1 reference

20 August 2017

69-77

1 reference

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

The puzzle of TRPV4 channelopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

The autosomal recessive cerebellar ataxias

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Fast and accurate short read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Neuropathy target esterase gene mutations cause motor neuron disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

The crystal structure, mutagenesis, and activity studies reveal that patatin is a lipid acyl hydrolase with a Ser-Asp catalytic dyad

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Human neuropathy target esterase catalyzes hydrolysis of membrane lipids

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Monomers of the catalytic domain of human neuropathy target esterase are active in the presence of phospholipid

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Comparative protein structure modeling of genes and genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Regulatory subunit of protein kinase A: structure of deletion mutant with cAMP binding domains

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism*

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Neuropathy target esterase (NTE): overview and future.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Inhibition of Diabrotica Larval Growth by Patatin, the Lipid Acyl Hydrolase from Potato Tubers.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

Familial ataxia, hypogonadism and retinal degeneration

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891450

2 September 2018

Identifiers

DOI

10.1093/BRAIN/AWT326

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

24355708

1 reference