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List of works by Nicolas Levy

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

scientific article published on 23 May 2011

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

scientific article published on 27 January 2011

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

scientific article published on 25 April 2016

A New Lamin A Mutation Associated with Acrogeria Syndrome

scientific article published on 01 April 2014

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

scientific article

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

scientific article published on 29 August 2011

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

scientific article published in September 2010

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

scientific article published in February 2011

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

scientific article

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

scientific article published on 16 February 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

scientific article published on 28 March 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

scientific article

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

scientific article published on 12 June 2013

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

scientific article published in October 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

scientific article published on 04 April 2011

An association of Hutchinson–Gilford progeria and malignancy

scientific article published on 01 August 2007

An inheritedLMNAgene mutation in atypical Progeria syndrome

scientific article published on 18 September 2012

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

scientific article published in January 2018

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

scientific article published in February 2009

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

scientific article published on 28 December 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.

scientific article published in March 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

scientific article published on 10 December 2007

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

scientific article

CAPN3 mutations in patients with idiopathic eosinophilic myositis.

scientific article

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

scientific article published on 24 February 2011

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

scientific article published on 10 December 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

scientific article published on 26 May 2015

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

scientific article

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

scientific article published on July 2015

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

scientific article published on January 17, 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

scientific article published on 01 October 1999

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

scientific article

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

scientific article published on 29 October 2014

Diagnostic strategy for limb-girdle muscular dystrophies.

scientific article published on 06 June 2012

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

scientific article

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

scientific article published in February 2009

Dysferlinopathy in Iran: Clinical and genetic report

scientific article published on 11 November 2015

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

scientific article published on 17 June 2013

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

scientific article published in February 2010

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

scientific article published on 5 August 2014

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

scientific article published on 01 October 2011

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

scientific article published in February 2010

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

scientific article

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

scientific article

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

scientific article published in January 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

scientific article published on 6 November 2015

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

scientific article

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.

scientific article published on 6 June 2008

Further heterogeneity in myopathy with tubular aggregates?

scientific article published on 01 December 2012

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

scientific article

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

scientific article

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

scientific article

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

scientific article (publication date: 2012)

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

scientific article published on 8 December 2011

High prevalence of laminopathies among patients with metabolic syndrome

scientific article published on 30 June 2011

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

scientific article

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.

scientific article

Identification of splicing defects caused by mutations in the dysferlin gene

scientific article published on December 2014

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

scientific article published on 19 March 2015

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

scientific article

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

scientific article published on 23 October 2009

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

scientific article published on 17 March 2015

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

scientific article published on 05 March 2014

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

scientific article

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

scientific article (publication date: 2012)

Lamin a truncation in Hutchinson-Gilford progeria.

scientific article

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

scientific article

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

scientific article published on 01 February 2000

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

scientific article published on 26 March 2013

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

scientific article

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

scientific article

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

scientific article published on 3 July 2017

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

scientific article

Molecular bases of progeroid syndromes.

scientific article

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

scientific article

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy

scientific article

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

scientific article

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

scientific article published on January 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

scientific article published on September 2013

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

scientific article

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

scientific article published in July 2006

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

scientific article published on 01 September 1997

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

scientific article published on 4 December 2006

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

scientific article published in June 2010

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

scientific article

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

scientific article

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

scientific article published on 09 March 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

scientific article published on 4 December 2014

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

scientific article published on 22 March 2014

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

scientific article published on 01 September 1993

PMP22 overexpression causes dysmyelination in mice.

scientific article published in October 2002

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

scientific article

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.

scientific article published in December 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

scientific article published on 28 August 2014

Prelamin A processing and functional effects in restrictive dermopathy

scientific article

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

scientific article published on 01 March 2000

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

scientific article published on 01 May 2002

Primary laminopathy fibroblasts display altered genome organization and apoptosis.

scientific article published on 5 February 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

scientific article published in December 2009

Respiratory and cardiac function in japanese patients with dysferlinopathy

scientific article published on 18 June 2015

Restrictive dermopathy in a Turkish newborn

scientific article published on 2 December 2010

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

scientific article published on 22 March 2012

SRPX2 mutations in disorders of language cortex and cognition

scientific article

Screening of the CAPN3 gene in patients with possible LGMD2A

scientific article published on 01 May 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

scientific article

Sex-dependent rearrangements resulting in CMT1A and HNPP.

scientific article published in October 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

scientific article published on 01 December 2005

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

scientific article published on 01 November 2008

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

scientific article published in November 2008

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

scientific article

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.

scientific article

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

scientific article published in February 2000

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

scientific article published on 22 February 2005

Toward an objective measure of functional disability in dysferlinopathy

scientific article published on 21 April 2015

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

scientific article published on 01 November 2007

Translational research and therapeutic perspectives in dysferlinopathies.

scientific article published on 06 May 2011

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

scientific article published on 4 February 2015

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

scientific article

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

scientific article

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

scientific article published on 29 December 2011

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

scientific article published on 04 February 2016

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

scientific article published on 21 June 2012

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

scientific article

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.

scientific article published on 30 December 2014

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

scientific article

[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].

scientific article

[Conclusions of RARE 2011 and prospects for RARE 2013]

scientific article published on 04 April 2012

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

scientific article published on 15 April 2008

[Introduction and welcome message]

scientific article published on 06 April 2012

miR-9: the sentinel of neurons in progeria

scientific article

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