Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families (Q34383503)

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English	Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families	scientific article

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1 August 2017

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families (English)

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1 August 2017

hereditary spastic paraplegia

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Patrick H. Maxwell

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Patrick H Maxwell

13

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Suqin Chen

1

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1 August 2017

Chun Song

2

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1 August 2017

Hui Guo

3

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1 August 2017

Pingyi Xu

4

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1 August 2017

Weijun Huang

5

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1 August 2017

Yan Zhou

6

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1 August 2017

Jiandong Sun

7

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1 August 2017

Cai-Xia Li

8

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1 August 2017

Yong Du

9

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1 August 2017

Xunhua Li

10

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1 August 2017

Zhuolin Liu

11

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1 August 2017

Deqin Geng

12

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1 August 2017

Cheng Zhang

14

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Yiming Wang

15

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1 August 2017

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1 February 2005

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25

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1 August 2017

2

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1 August 2017

135-141

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1 August 2017

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

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Prediction of transmembrane alpha-helices in prokaryotic membrane proteins: the dense alignment surface method

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

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

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

TMAP: a new email and WWW service for membrane-protein structural predictions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

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https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

The HMMTOP transmembrane topology prediction server

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

21 January 2018

The phenotype of "pure" autosomal dominant spastic paraplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

7 January 2021

based on heuristic

inferred from DOI database lookup

Advances in hereditary spastic paraplegia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20126

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20126

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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