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Lista de obras de Nicolas Levy

172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands

artículo científico publicado en 2011

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

artículo científico publicado en 2011

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

artículo científico publicado en 2016

A New Lamin A Mutation Associated with Acrogeria Syndrome

artículo científico publicado en 2014

A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

artículo científico publicado en 2013

A conserved splicing mechanism of the LMNA gene controls premature aging.

artículo científico publicado en 2011

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

artículo científico publicado en 2010

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

artículo científico publicado en 2011

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

artículo científico publicado en 2013

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene

artículo científico publicado en 2016

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation

artículo científico publicado en 2013

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects

artículo científico publicado en 2008

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

artículo científico publicado en 2013

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern

artículo científico publicado en 2006

Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?

scientific article published on 28 May 2008

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion

scientific article published on 01 July 2004

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome

artículo científico publicado en 2011

An association of Hutchinson–Gilford progeria and malignancy

artículo científico publicado en 2007

An inheritedLMNAgene mutation in atypical Progeria syndrome

artículo científico publicado en 2012

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.

artículo científico publicado en 2018

Analysis of the DYSF mutational spectrum in a large cohort of patients

artículo científico publicado en 2009

Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode

artículo científico publicado en 2010

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells

scientific article published on 11 July 2016

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

artículo científico publicado en 2005

Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna R298C/R298C

scientific article published on 14 February 2012

Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene

artículo científico publicado en 2007

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

artículo científico publicado en 2010

CAPN3 mutations in patients with idiopathic eosinophilic myositis.

artículo científico publicado en 2006

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

artículo científico publicado en 2011

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

artículo científico publicado en 2015

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

article

Clinical massively parallel sequencing for the diagnosis of myopathies

artículo científico

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

artículo científico publicado en 2008

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

artículo científico publicado en 2015

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy ⬇️

artículo científico publicado el 17 de enero de 2013

Defective prelamin A processing resulting from LMNA or ZMPSTE24 mutations as the cause of restrictive dermopathy

scientific article published on 01 November 2005

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings

artículo científico publicado en 1999

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

artículo científico publicado en 2013

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

artículo científico publicado en 2014

Diagnostic strategy for limb-girdle muscular dystrophies.

artículo científico publicado en 2012

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation.

artículo científico publicado en 2016

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

scientific article published on 01 August 2005

Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases

artículo científico publicado en 2009

Dysferlinopathy in Iran: Clinical and genetic report

artículo científico publicado en 2015

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

artículo científico publicado en 2013

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

artículo científico publicado en 2010

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

artículo científico publicado en 2014

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

artículo científico publicado en 2011

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

artículo científico publicado en 2010

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

artículo científico publicado en 2011

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

artículo científico publicado en 2014

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

artículo científico publicado en 1998

Fine-mapping the gene for X-linked myopathy with excessive autophagy

scientific article published on 01 September 2008

First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope

artículo científico publicado en 2015

First case of gamma-thalassemia in association with a betaS allele: a pitfall in the neonatal screening for sickle cell disease.

artículo científico publicado en 2008

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

artículo científico publicado en 2008

Further heterogeneity in myopathy with tubular aggregates?

artículo científico publicado en 2012

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

artículo científico publicado en 2009

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

artículo científico publicado en 2006

HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" study

artículo científico publicado en 2012

HIV-1 infection and first line ART induced differential responses in mitochondria from blood lymphocytes and monocytes: the ANRS EP45 "Aging" study

artículo científico publicado en 2012

HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation

artículo científico publicado en 2011

High prevalence of laminopathies among patients with metabolic syndrome

artículo científico publicado en 2011

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

artículo científico publicado en 2005

Identification and sequencing the juvenile spermatogonial depletion critical interval on mouse chromosome 1 reveals the presence of eight candidate genes

scientific article published on 01 November 2001

Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.

artículo científico publicado en 2009

Identification of splicing defects caused by mutations in the dysferlin gene

artículo científico

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

artículo científico publicado en 2015

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

artículo científico publicado en 2011

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

artículo científico publicado en 2015

Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome

artículo científico publicado en 2014

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

artículo científico publicado en 2010

LMNA mutations in atypical Werner's syndrome

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy

artículo científico publicado en 2012

Lamin a truncation in Hutchinson-Gilford progeria.

artículo científico publicado en 2003

Late diagnosis of an unstable hemoglobin in a diabetic patient: Hb Baille alpha2 122(H5)His>Tyr

artículo científico publicado en 2009

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

artículo científico publicado en 2000

Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy

artículo científico publicado en 2013

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

artículo científico publicado en 2005

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

artículo científico publicado en 2015

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.

artículo científico publicado en 2017

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

artículo científico publicado en 2018

Molecular bases of progeroid syndromes.

artículo científico publicado en 2006

Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.

artículo científico publicado en 2008

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.

artículo científico publicado en 2011

Molecular dissection of the Schwann cell specific promoter of the PMP22 gene.

artículo científico publicado en 2000

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

artículo científico publicado en 2006

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

article

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

artículo científico publicado en 2013

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

artículo científico publicado en 2007

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

artículo científico publicado en 2006

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population

artículo científico publicado en 1997

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement

artículo científico publicado en 2006

Neonatal screening for sickle cell disease in France: evaluation of the selective process

artículo científico publicado en 2010

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

artículo científico publicado en 2013

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

artículo científico publicado en 2012

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

scientific article published on 18 December 2008

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

artículo científico publicado en 2011

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

article

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

article

Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform

artículo científico publicado en 2014

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

artículo científico

Numerical aberrations, including trisomy 22 as the sole anomaly, are recurrent in follicular thyroid adenomas

artículo científico publicado en 1993

PMP22 overexpression causes dysmyelination in mice.

artículo científico publicado en 2002

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

artículo científico publicado en 2015

Physical and genetic linkage of glutaminase (Gls), signal transducer and activator of transcription 1 (Stat1), and xeroderma pigmentosum complementation group G (Xpg) on mouse proximal chromosome 1.

artículo científico publicado en 1998

Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study

Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment

artículo científico publicado en 2014

Prelamin A processing and functional effects in restrictive dermopathy

artículo científico publicado en 2010

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A

artículo científico publicado en 2000

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders

artículo científico publicado en 2002

Primary laminopathy fibroblasts display altered genome organization and apoptosis.

artículo científico publicado en 2007

RETRACTED: VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification

scientific journal article

Relation of body mass index to high on-treatment platelet reactivity and of failed clopidogrel dose adjustment according to platelet reactivity monitoring in patients undergoing percutaneous coronary intervention

artículo científico publicado en 2009

Respiratory and cardiac function in japanese patients with dysferlinopathy

artículo científico publicado en 2015

Restrictive dermopathy in a Turkish newborn

artículo científico publicado en 2010

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

artículo científico publicado en 2012

SRPX2 mutations in disorders of language cortex and cognition

artículo científico publicado en 2006

Screening of the CAPN3 gene in patients with possible LGMD2A

artículo científico publicado en 2006

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

artículo científico publicado en 2004

Sex-dependent rearrangements resulting in CMT1A and HNPP.

artículo científico publicado en 1997

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

article

Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes

artículo científico publicado en 2005

Tetra-amelia and lung hypo/aplasia syndrome: New case report and review

artículo científico publicado en 2008

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

artículo científico publicado en 2008

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

artículo científico publicado en 2003

The rare codon 24 (T>A) (beta+) mutation in association with the common codon 39 (C> T) (beta0) mutation causes transfusion-dependent beta-thalassemia in a Moroccan patient.

artículo científico publicado en 2009

The ubiquitin-activating enzyme E1 homologous genes on the mouse Y chromosome (Ube1y) represent one functional gene and six partial pseudogenes

artículo científico publicado en 2000

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant

artículo científico publicado en 2005

Toward an objective measure of functional disability in dysferlinopathy

artículo científico publicado en 2015

Transcriptional explorations ofCAPN3identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

artículo científico publicado en 2007

Translational research and therapeutic perspectives in dysferlinopathies.

artículo científico publicado en 2011

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

artículo científico publicado en 2015

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

artículo científico publicado en 2012

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

artículo científico publicado en 2011

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

artículo científico publicado en 2011

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

artículo científico publicado en 2016

Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

artículo científico publicado en 2012

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

artículo científico publicado en 2013

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

scientific article published on 01 January 2012

Vascular Endothelial Growth Factor A c.*237C>T polymorphism is associated with bevacizumab efficacy and related hypertension in metastatic colorectal cancer.

artículo científico publicado en 2014

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

artículo científico publicado en 2015

[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain]

scientific article published on 01 September 2005

[Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012].

artículo científico publicado en 2013

[Conclusions of RARE 2011 and prospects for RARE 2013]

artículo científico publicado en 2012

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]

artículo científico publicado en 2008

[Introduction and welcome message]

artículo científico publicado en 2012

miR-9: the sentinel of neurons in progeria

artículo científico publicado en 2012

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

artículo científico publicado el 23 de octubre de 2009

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