Lista de obras -

90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

artículo científico publicado en 2002

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2013

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

artículo científico publicado en 2008

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

artículo científico publicado en 2006

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

artículo científico

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

artículo científico publicado en 2012

An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomy.

artículo científico publicado en 2015

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2016

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

artículo científico publicado en 2006

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis

artículo científico publicado en 2017

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

artículo científico publicado en 2014

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

artículo científico publicado en 2017

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

artículo científico publicado en 2001

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

artículo científico publicado en 2010

Correlation between severity and SMN protein level in spinal muscular atrophy

artículo científico publicado en 1997

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

scientific article published on 01 June 1994

De novo deletions in spinal muscular atrophy: implications for genetic counselling

artículo científico publicado en 1997

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

scientific article published on 14 September 2020

Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload

artículo científico publicado en 2004

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

artículo científico publicado en 2018

Gene targeting restricted to mouse striated muscle lineage

artículo científico publicado en 1999

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2009

Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndrome

artículo científico publicado en 2013

Identification of the gene determining spinal muscular atrophy: perspectives ⬇️

artículo científico publicado el 1 de junio de 1995

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

artículo científico publicado en 2003

Inter- and intrastrain variation in mouse critical running speed.

artículo científico publicado en 2004

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

artículo científico publicado en 1996

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

artículo científico publicado en 2014

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation

artículo científico publicado en 2018

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita

artículo científico publicado en 2017

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

artículo científico publicado en 2012

Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrity.

artículo científico publicado en 2014

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice

artículo científico publicado en 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

artículo científico publicado en 2012

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

artículo científico publicado en 2013

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications

artículo científico publicado en 2008

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

artículo científico publicado en 2016

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

scientific journal article

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

scientific journal article

New role for serum response factor in postnatal skeletal muscle growth and regeneration via the interleukin 4 and insulin-like growth factor 1 pathways

artículo científico publicado en 2006

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

artículo científico publicado en 2013

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

artículo científico

Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies

scientific article published on 01 January 1994

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

artículo científico publicado en 2010

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Refined characterization of the expression and stability of the SMN gene products.

artículo científico publicado en 2007

Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.

artículo científico publicado en 2003

SMN gene deletion in variant of infantile spinal muscular atrophy ⬇️

artículo científico publicado el 29 de julio de 1995

SMN gene deletions in adult-onset spinal muscular atrophy

artículo científico publicado en 1995

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

artículo científico publicado en 2012

Spinal muscular atrophy associated with progressive myoclonus epilepsy

artículo científico publicado en 2016

Spinal muscular atrophy: recent advances and future prospects.

artículo científico publicado en 2002

Structure and organization of the human survival motor neurone (SMN) gene

artículo científico publicado en 1996

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

artículo científico publicado en 1996

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

artículo científico publicado en 2015

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

artículo científico publicado en 1997

The molecular bases of spinal muscular atrophy

artículo científico publicado en 2002

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

artículo científico publicado en 2012

The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements

artículo científico publicado en 1999

The role of the SMN gene in proximal spinal muscular atrophy ⬇️

artículo científico publicado el 1 de enero de 1998

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

artículo científico publicado en 2009

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

artículo científico publicado en 2015

YB-1 promotes microtubule assembly in vitro through interaction with tubulin and microtubules

artículo científico publicado en 2008

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

artículo científico publicado en 1997

Lista de obras de

90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomy.

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

Correlation between severity and SMN protein level in spinal muscular atrophy

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

De novo deletions in spinal muscular atrophy: implications for genetic counselling

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Gene targeting restricted to mouse striated muscle lineage

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndrome

Identification of the gene determining spinal muscular atrophy: perspectives ⬇️

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

Inter- and intrastrain variation in mouse critical running speed.

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrity.

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

New role for serum response factor in postnatal skeletal muscle growth and regeneration via the interleukin 4 and insulin-like growth factor 1 pathways

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Refined characterization of the expression and stability of the SMN gene products.

Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.

SMN gene deletion in variant of infantile spinal muscular atrophy ⬇️

SMN gene deletions in adult-onset spinal muscular atrophy

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

Spinal muscular atrophy associated with progressive myoclonus epilepsy

Spinal muscular atrophy: recent advances and future prospects.

Structure and organization of the human survival motor neurone (SMN) gene

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

The molecular bases of spinal muscular atrophy

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements

The role of the SMN gene in proximal spinal muscular atrophy ⬇️

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

YB-1 promotes microtubule assembly in vitro through interaction with tubulin and microtubules

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).