(Q36008185)

11 August 2017

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia (English)

1 reference

hereditary spastic paraplegia

11 August 2017

1 reference

27

Alexis Brice

0 references

Alexandre Dionne-Laporte

6

Alexandre Dionne-Laporte

0 references

Sara Morais

Sara Morais

5

0 references

Marie Coutelier

Marie Coutelier

1

0 references

Florence Habarou

Florence Habarou

4

0 references

Frédéric Darios

Frédéric Darios

29

0 references

Chris Ottolenghi

Chris Ottolenghi

32

0 references

Isabel Alonso

Isabel Alonso

13

0 references

Giovanni Stevanin

Giovanni Stevanin

34

0 references

Guy A. Rouleau

26

Guy Rouleau

1 reference

11 August 2017

3

Alexandra Durr

1 reference

11 August 2017

18

Rebecca Schule

1 reference

11 August 2017

31

Stephan Zuchner

1 reference

11 August 2017

30

José L Loureiro

1 reference

11 August 2017

21

Christelle M Durand

1 reference

11 August 2017

22

Christel Depienne

1 reference

11 August 2017

10

Perrine Charles

1 reference

11 August 2017

33

Fanny Mochel

1 reference

11 August 2017

2

Cyril Goizet

1 reference

11 August 2017

7

Feifei Tao

1 reference

11 August 2017

8

Juliette Konop

1 reference

11 August 2017

9

Marion Stoll

1 reference

11 August 2017

11

Maxime Jacoupy

1 reference

11 August 2017

12

Raphaël Matusiak

1 reference

11 August 2017

Chantal M E Tallaksen

14

Chantal Tallaksen

1 reference

11 August 2017

15

Mathilde Mairey

1 reference

11 August 2017

23

Patrick Calvas

1 reference

11 August 2017

20

Fanny Morice-Picard

1 reference

11 August 2017

Marina Kennerson

16

1 reference

11 August 2017

Marion Gaussen

17

1 reference

11 August 2017

Maxime Janin

19

1 reference

11 August 2017

Paula Coutinho

24

1 reference

11 August 2017

Jean-Marie Saudubray

25

1 reference

11 August 2017

Garth Nicholson

28

1 reference

11 August 2017

language of work or name

English

0 references

publication date

29 May 2015

1 reference

11 August 2017

1 reference

11 August 2017

138

1 reference

11 August 2017

Pt 8

1 reference

11 August 2017

2191-2205

1 reference

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Evolution of proline biosynthesis: enzymology, bioinformatics, genetics, and transcriptional regulation.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

DJ-1 cooperates with PYCR1 in cell protection against oxidative stress

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Cellular pathways of hereditary spastic paraplegia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Mutations in PYCR1 cause cutis laxa with progeroid features

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Human Delta1-pyrroline-5-carboxylate synthase: function and regulation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

The skeletal muscle chloride channel in dominant and recessive human myotonia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4553756

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV143

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26026163

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWV143

1 reference

11 August 2017

1 reference

11 August 2017

1 reference