(Q34538342)

2 August 2017

1 reference

title

Unraveling the genetics of distal hereditary motor neuronopathies (English)

1 reference

2 August 2017

Joy Irobi

1

1 reference

2 August 2017

Ines Dierick

2

1 reference

2 August 2017

Albena Jordanova

3

1 reference

2 August 2017

Kristl G Claeys

4

1 reference

2 August 2017

Peter De Jonghe

5

1 reference

2 August 2017

Vincent Timmerman

6

1 reference

2 August 2017

1 January 2006

1 reference

2 August 2017

NeuroMolecular Medicine

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2 August 2017

8

1 reference

2 August 2017

1-2

1 reference

2 August 2017

131-146

1 reference

https://scigraph.springernature.com/pub.10.1385/nmm:8:1-2:131

2 August 2017

0 references

cites work

Seipin: a mysterious protein

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Is spinal muscular atrophy the result of defects in motor neuron processes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Unraveling the mechanisms involved in motor neuron degeneration in ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Novel syndromic form of X-linked complicated spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Dominant congenital benign spinal muscular atrophy

21 January 2018

2 references

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

21 January 2018

12 December 2020

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Distal hereditary upper limb muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Motor neurons rely on motor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Molecular genetics of distal hereditary motor neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Axonal defects in mouse models of motoneuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Growth and maturation of the rat corticospinal tract.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Hereditary motor peripheral neuropathy predominantly affecting the arms

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Investigation of peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Distal type of chronic spinal muscular atrophy. Clinical, electrophysiological and pathological studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

The rat ortholog of the presumptive flounder antifreeze enhancer-binding protein is a helicase domain-containing protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

NERVE CONDUCTION AND OTHER STUDIES IN FAMILIES WITH CHARCOT-MARIE-TOOTH DISEASE

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

A functional interaction between the survival motor neuron complex and RNA polymerase II

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Distal spinal muscular atrophy with vocal cord paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Mutant dynactin in motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Autosomal dominant juvenile amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Anatomy, development and lesion-induced plasticity of rodent corticospinal tract

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Hsp27 and axonal growth in adult sensory neurons in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Hereditary distal spinal muscular atrophy with vocal cord paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A131

Amyotrophy of the hands and pyramidal features of predominantly the legs segregating within one large family

21 January 2018

1 reference

12 December 2020

Constitutive expression of human hsp27, Drosophila hsp27, or human alpha B-crystallin confers resistance to TNF- and oxidative stress-induced cytotoxicity in stably transfected murine L929 fibroblasts.

1 reference

12 December 2020

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

12 December 2020

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24

1 reference

12 December 2020

Sensory axonopathy in hereditary distal spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations

1 reference

12 December 2020

Morphometric study of the sensory nerve in classical (or Charcot disease) and juvenile amyotrophic lateral sclerosis

1 reference

12 December 2020

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

1 reference

12 December 2020

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

1 reference

12 December 2020

The nosology of the spinal muscular atrophies

1 reference

12 December 2020

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

12 December 2020

Distal hereditary motor neuronopathy of the Jerash type

1 reference

12 December 2020

Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease

1 reference

12 December 2020

A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.

1 reference

12 December 2020

Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin

1 reference

12 December 2020

Identifiers

DOI

10.1385/NMM:8:1-2:131

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference