(Q36507152)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

review article

1 reference

title

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference

Annachiara De Sandre-Giovannoli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Valerie Delague

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Nicolas Levy

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

author name string

Rafaëlle Bernard

1

1 reference

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30 January 2020

publication date

1 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

published in

NeuroMolecular Medicine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

page(s)

87-106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16775369%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1385/nmm:8:1-2:87

30 January 2020

exact match

0 references

cites work

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Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

21 January 2018

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Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

21 January 2018

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Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity

21 January 2018

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Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.

21 January 2018

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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

21 January 2018

1 reference

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Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

21 January 2018

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Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

21 January 2018

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Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene

21 January 2018

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CMT4A: identification of a Hispanic GDAP1 founder mutation

21 January 2018

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Periaxin mutations cause recessive Dejerine-Sottas neuropathy

21 January 2018

1 reference

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

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High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients

21 January 2018

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A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

21 January 2018

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Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

21 January 2018

1 reference

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A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

21 January 2018

1 reference

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The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

21 January 2018

1 reference

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LMNA mutations in atypical Werner's syndrome

21 January 2018

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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

21 January 2018

1 reference

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Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24

21 January 2018

1 reference

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

21 January 2018

1 reference

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Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

21 January 2018

1 reference

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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

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Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

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Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

21 January 2018

1 reference

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Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

21 January 2018

1 reference

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A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect

21 January 2018

1 reference

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In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C.

21 January 2018

1 reference

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Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

21 January 2018

1 reference

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

1 reference

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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

1 reference

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Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts

21 January 2018

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ATP: an extracellular signaling molecule between neurons and glia

21 January 2018

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New insights into neuron-glia communication

21 January 2018

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Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice

21 January 2018

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Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood.

21 January 2018

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Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.

21 January 2018

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A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

21 January 2018

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Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

21 January 2018

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The nuclear lamina comes of age.

21 January 2018

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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

21 January 2018

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Autosomal recessive forms of hereditary motor and sensory neuropathy

21 January 2018

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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

21 January 2018

1 reference

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A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

21 January 2018

1 reference

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Genomic instability in laminopathy-based premature aging

21 January 2018

1 reference

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A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies

21 January 2018

1 reference

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Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes

21 January 2018

1 reference

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Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

21 January 2018

1 reference

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Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

A progeroid syndrome in mice is caused by defects in A-type lamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

21 January 2018

1 reference

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Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model.

21 January 2018

1 reference

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Neuronal differentiation of NT2/D1 teratocarcinoma cells is accompanied by a loss of lamin A/C expression and an increase in lamin B1 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

21 January 2018

2 references

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

21 January 2018

12 December 2020

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Charcot-Marie-Tooth disease: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Nuclear envelopathies--raising the nuclear veil

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Autosomal-recessive Charcot-Marie-Tooth diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

The nuclear muscular dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Proteins that bind A-type lamins: integrating isolated clues

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Fine localization of the CMT4A locus using a PAC contig and haplotype analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A87

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

21 January 2018

1 reference

12 December 2020

Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?

1 reference

12 December 2020

Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study.

1 reference

12 December 2020

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

12 December 2020

LMNA mutations in atypical Werner's syndrome

1 reference

12 December 2020

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

1 reference

12 December 2020

Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.

1 reference

12 December 2020

Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice

1 reference

12 December 2020

Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood

1 reference

12 December 2020

The regulation of bidirectional mitochondrial transport is coordinated with axonal outgrowth

1 reference

12 December 2020

Electrophysiological findings including single fibre EMG in a family with mitochondrial myopathy

1 reference

12 December 2020

Autosomal recessive forms of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations

1 reference

12 December 2020

Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy.

1 reference

12 December 2020

The giant axonal neuropathy--clinical and hisotological aspects, differential diagnosis and a new case

1 reference

12 December 2020

LMNA mutations in atypical Werner's syndrome

1 reference

12 December 2020

Mitochondrial neuropathy

1 reference

12 December 2020

Complex formation between lamin A and the retinoblastoma gene product: identification of the domain on lamin A required for its interaction

1 reference

12 December 2020