A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia (Q34394536)

1 August 2017

title

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia (English)

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1 August 2017

Johanna A Reed

1

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1 August 2017

Phillip A Wilkinson

2

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1 August 2017

Heema Patel

3

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1 August 2017

Michael A Simpson

4

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1 August 2017

Arnaud Chatonnet

5

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1 August 2017

Dimitri Robay

6

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1 August 2017

Michael A Patton

7

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1 August 2017

Andrew H Crosby

8

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1 August 2017

Thomas T Warner

9

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1 August 2017

publication date

12 February 2005

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1 August 2017

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1 August 2017

volume

6

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1 August 2017

issue

2

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1 August 2017

page(s)

79-84

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Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

1 August 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS10048-004-0209-9

Hereditary spastic paraplegia

21 January 2018

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12 December 2020

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

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12 December 2020

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

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12 December 2020

Many pathways lead to hereditary spastic paraplegia

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12 December 2020

Structural basis of G protein-coupled receptor function

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12 December 2020

The iodocyanopindolol and SM-11044 binding protein belongs to the TM9SF multispanning membrane protein superfamily.

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12 December 2020

Strategies for multilocus linkage analysis in humans

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12 December 2020

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

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12 December 2020

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

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12 December 2020

Is the transportation highway the right road for hereditary spastic paraplegia?

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12 December 2020

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

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12 December 2020

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

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12 December 2020

Characterization of a 76 kDa endosomal, multispanning membrane protein that is highly conserved throughout evolution

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12 December 2020

Hereditary spastic paraplegia: spastin phenotype and function

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12 December 2020

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

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12 December 2020

Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon

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12 December 2020

Evaluation of methods for the prediction of membrane spanning regions

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12 December 2020

Disruption of cellular transport: a common cause of neurodegeneration?

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12 December 2020

Metabolism of arachidonic acid in nervous system of marine mollusk Aplysia californica

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12 December 2020

Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family

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12 December 2020

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

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12 December 2020

Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci

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12 December 2020

Multiple sequence alignment with hierarchical clustering

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12 December 2020

10.1007/S10048-004-0209-9

Identifiers

DOI

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1 August 2017

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