(Q46465758)

22 December 2017

title

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction (English)

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22 December 2017

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6

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22 December 2017

Giovanni Stevanin

12

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22 December 2017

Simon Edvardson

object named as

Simon Edvardson

14

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Alexandra Durr

9

object named as

Alexandra Durr

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22 December 2017

10

Alexis Brice

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22 December 2017

5

Naima Bouslam

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22 December 2017

Yuval Cinnamon

2

object named as

Yuval Cinnamon

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22 December 2017

author name string

Talya Dor

1

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22 December 2017

Laure Raymond

3

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22 December 2017

Avraham Shaag

4

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22 December 2017

Marion Gaussen

7

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22 December 2017

Vincent Meyer

8

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22 December 2017

Ali Benomar

11

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22 December 2017

Markus Schuelke

13

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22 December 2017

language of work or name

English

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publication date

6 December 2013

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22 December 2017

Journal of Medical Genetics

published in

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22 December 2017

volume

51

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22 December 2017

issue

2

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22 December 2017

page(s)

137-142

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22 December 2017

Classification of the hereditary ataxias and paraplegias

cites work

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Cellular pathways of hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Genetics of hereditary spastic paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Fusing a lasting relationship between ER tubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Geneious Basic: an integrated and extendable desktop software platform for the organization and analysis of sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

An integrated map of genetic variation from 1,092 human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Molecular motor KIF1C is not essential for mouse survival and motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Directional persistence of migrating cells requires Kif1C-mediated stabilization of trailing adhesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102012

10.1136/JMEDGENET-2013-102012

21 January 2018

Identifiers

DOI

1 reference

22 December 2017

release_kmcz7dujvnfw5bppcvwfnqelum

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kmcz7dujvnfw5bppcvwfnqelum

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

22 December 2017