(Q28246639)

16

0 references

Kiyotaka Toshimori

9

object named as

Kiyotaka Toshimori

0 references

Chizuru Ito

8

object named as

Chizuru Ito

0 references

author name string

Gen Tamiya

1

0 references

Satoshi Makino

2

0 references

Makiko Hayashi

3

0 references

Akiko Abe

4

0 references

Chikahiko Numakura

5

0 references

Masao Ueki

6

0 references

Atsushi Tanaka

7

0 references

Nobuhiro Ogawa

10

0 references

Tomoya Terashima

11

0 references

Hiroshi Maegawa

12

0 references

Daijiro Yanagisawa

13

0 references

Masayoshi Tada

15

0 references

Kiyoshi Hayasaka

American Journal of Human Genetics

17

0 references

language of work or name

English

0 references

publication date

4 September 2014

0 references

published in

0 references

volume

95

0 references

issue

3

0 references

page(s)

294-300

0 references

cites work

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

A method and server for predicting damaging missense mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

A gene atlas of the mouse and human protein-encoding transcriptomes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

MutationTaster evaluates disease-causing potential of sequence alterations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Allegro, a new computer program for multipoint linkage analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Predicting the functional effect of amino acid substitutions and indels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Disease mechanisms in inherited neuropathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

A computational analysis of sequence features involved in recognition of short introns

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157141

Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity

29 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25152455

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25152455

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25152455