A. De Sandre-Giovannoli

发表

Lamin A Truncation in Hutchinson-Gilford Progeria

Pierre Cau, Arnold Munnich, Colin L. Stewart, 2003, Science.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

P. Bauer, A. Rötig, H. Kayserili, 2020, Nature Communications.

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

P. Calvas, N. Chassaing, C. Rooryck, 2011, European journal of medical genetics.

MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells

N. Lévy, L. Van Maldergem, A. De Sandre-Giovannoli, 2022, Cells.

MG132 induces progerin clearance and improves disease phenotypes in fibroblasts of patients affected with Hutchinson-Gilford Progeria-like syndromes

N. Lévy, L. Van Maldergem, A. De Sandre-Giovannoli, 2021, bioRxiv.

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

N. Philip, P. Calvas, N. Lévy, 2019, Orphanet Journal of Rare Diseases.

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

N. Lévy, A. De Sandre-Giovannoli, P. Roll, 2018, Nucleus.

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

N. Lévy, Nathalie Da Silva, A. De Sandre-Giovannoli, 2016, Cells.

An inherited LMNA gene mutation in atypical Progeria syndrome

N. Lévy, M. Tajir, S. Elalaoui, 2012, American journal of medical genetics. Part A.

An association of Hutchinson–Gilford progeria and malignancy

N. Lévy, S. Shalev, A. De Sandre-Giovannoli, 2007, American journal of medical genetics. Part A.

Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

A. Atalaia, C. Vigouroux, K. Wahbi, 2021, Journal of neuromuscular diseases.

The Assistance Publique Hôpitaux de Marseille’s Biobank

P. Morange, D. Figarella-Branger, B. Lacarelle, 2020 .

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status

N. Lévy, J. Micallef, P. Tomasini, 2017, PloS one.

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

W. Reardon, R. Hennekam, H. Cavé, 2005, Journal of Medical Genetics.

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

J. Grob, N. Lévy, C. Gaudy-Marqueste, 2010, Journal of Medical Genetics.

LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.

J. Grob, N. Lévy, C. Gaudy-Marqueste, 2009, Genetic testing and molecular biomarkers.

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

H. Lepidi, N. Philip, N. Lévy, 2016, International journal of cardiology.

Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

C. Bodemer, S. Hadj-Rabia, V. Cormier-Daire, 2013, American journal of medical genetics. Part A.

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

E. Génin, N. Lévy, D. Grid, 2008, Annals of human genetics.

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

N. Lévy, D. Amor, V. Cormier-Daire, 2013, European Journal of Human Genetics.

Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging

F. Magdinier, B. Binétruy, J. Robin, 2022, Life Science Alliance.

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

L. Hoch, Céline Bruge, X. Nissan, 2018, Scientific Reports.

Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson‐Gilford Progeria Syndrome

M. Peschanski, X. Nissan, N. Lévy, 2014, Stem cells translational medicine.

Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

N. Lévy, S. Abdelhak, O. Messaoud, 2021, Frontiers in Genetics.

FANCA Gene Mutations in North African Fanconi Anemia Patients

J. Surrallés, M. Bogliolo, N. Lévy, 2021, Frontiers in Genetics.

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

J. Tournois, X. Nissan, N. Lévy, 2016, Scientific Reports.

Neutralizing antibodies against SARS-CoV-2 variants following mRNA booster vaccination in adults older than 65 years

V. Appay, Y. Yazdanpanah, E. Tartour, 2022, Scientific Reports.

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

N. Philip, M. Mattei, J. Pouget, 2005, Journal of Medical Genetics.

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

Pierre Cau, Nicolas Lévy, N. Lévy, 2014, Seminars in cell & developmental biology.

Altered splicing in prelamin A-associated premature aging phenotypes.

N. Lévy, A. De Sandre-Giovannoli, Annachiara De Sandre-Giovannoli, 2006, Progress in molecular and subcellular biology.

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

N. Lévy, D. Bessis, A. De Sandre-Giovannoli, 2009, Stroke.

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

N. Lévy, A. De Sandre-Giovannoli, P. Roll, 2018, Aging cell.

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

M. Mattei, X. Nissan, N. Lévy, 2017, EMBO molecular medicine.

A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

N. Lévy, M. Derbent, A. De Sandre-Giovannoli, 2013, Annals of dermatology.

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

L. Hoch, X. Nissan, N. Lévy, 2018, Scientific Reports.

Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA.

M. Peschanski, X. Nissan, N. Lévy, 2012, Cell reports.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

R. Pfundt, W. Chung, S. Küry, 2021, European Journal of Human Genetics.

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

M. Peschanski, J. Tournois, X. Nissan, 2016, Cell Death and Disease.

miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence

F. Magdinier, E. Novoa-Del-Toro, J. Robin, 2022, iScience.

Restrictive Dermopathy in a Turkish Newborn

B. Tüysüz, N. Lévy, G. Yeşil, 2011, Pediatric dermatology.

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

N. Lévy, R. Śmigiel, A. Hałoń, 2010, American journal of medical genetics. Part A.

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

C. López-Otín, R. Hennekam, A. Wagner, 2005, Human molecular genetics.

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

R. Hennekam, A. Verloes, N. Lévy, 2004, Human molecular genetics.

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

A. Mégarbané, N. Lévy, J. Vallat, 2003, Journal of medical genetics.

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.

C. Stewart, N. Lévy, J. Vallat, 2002, American journal of human genetics.

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

C. López-Otín, J. Freije, J. Tazi, 2011, Human molecular genetics.

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

I. Varela, C. López-Otín, J. Tazi, 2011, Science Translational Medicine.

A new lamin a mutation associated with acrogeria syndrome.

C. Bodemer, N. Lévy, S. Hadj-Rabia, 2014, The Journal of investigative dermatology.

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

V. Quesada, Diana A. Puente, C. López-Otín, 2016, Journal of Medical Genetics.

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

R. Wevers, N. Lévy, E. Morava, 2015, European Journal of Human Genetics.

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13

J. de Magalhães, A. Ori, X. Nissan, 2020, Nature Communications.

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Christophe Béroud, Nicolas Lévy, Richard Caswell, 2017, Metabolism: clinical and experimental.

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

N. Lévy, S. Abdelhak, O. Messaoud, 2019, Front. Genet..

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

R. Porcher, É. Marijon, A. Lazarus, 2019, Circulation.

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

V. Quesada, Diana A. Puente, C. López-Otín, 2014, BMC Medical Genetics.

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

J. Desvignes, N. Lévy, S. Olschwang, 2018, BMC Pediatrics.

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

J. Pedespan, C. Goizet, M. Thibaud, 2020, Neuropediatrics.

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities

A. Munnich, D. Lessel, C. Kubisch, 2023, American journal of medical genetics. Part A.

Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis.

C. Marcelli, A. De Sandre-Giovannoli, A. Molin, 2019, Joint, bone, spine : revue du rhumatisme.