(Q35737875)

10 August 2017

title

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome (English)

1 reference

Gabriel Miltenberger-Miltényi

10 August 2017

author

11

Gabriel Miltenberger-Miltenyi

0 references

Michaela Auer-Grumbach

18

Michaela Auer-Grumbach

0 references

Ludger Schöls

6

Ludger Schöls

1 reference

10 August 2017

Andreas R Janecke

10

0 references

Hanns Lochmüller

Hanns Lochmüller

3

0 references

Mary Reilly

2

Mary M Reilly

1 reference

10 August 2017

Barbara Rohkamm

1

1 reference

10 August 2017

Beate Schlotter-Weigel

4

1 reference

10 August 2017

Nina Barisic

5

1 reference

10 August 2017

Garth Nicholson

7

1 reference

10 August 2017

Davide Pareyson

8

1 reference

10 August 2017

Matilde Laurà

9

1 reference

10 August 2017

Elisabeth John

12

1 reference

10 August 2017

Carina Fischer

13

1 reference

10 August 2017

Franz Grill

14

1 reference

10 August 2017

William Wakeling

15

1 reference

10 August 2017

Mary Davis

16

1 reference

10 August 2017

Thomas R Pieber

17

1 reference

10 August 2017

publication date

30 July 2007

1 reference

Journal of the Neurological Sciences

10 August 2017

published in

1 reference

10 August 2017

volume

263

1 reference

10 August 2017

issue

1-2

1 reference

10 August 2017

page(s)

100-106

1 reference

Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Molecular genetics of distal hereditary motor neuropathies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Phenotype of Charcot-Marie-Tooth disease Type 2.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Familial spastic paraplegia with amyotrophy of the hands

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272403

Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17663003

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17663003

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JNS.2007.06.047

1 reference

10 August 2017

1 reference

10 August 2017

1 reference