الرئيسية › دليل الباحثين › Nicolas Lévy
Nicolas Lévy
الانتماء : Inserm · Aix-Marseille Université · Hôpital de la Timone · Centre de Génétique Médicale de Marseille
- 34منشورات (انتماء فرنسي)
- 446مجموع المنشورات
- 15521الاستشهادات
- 62مؤشر h
الملف البحثي
لدى Nicolas Lévy 34 منشور(ات) مفهرسة (2002–2023). تُنشر أعماله أساسًا في «Neuromuscular Disorders»، «Frontiers in Genetics» و«American Journal of Medical Genetics Part A». أكثر مقالاته استشهادًا هو «Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Mari» (2002)، وقد استُشهد به 562 مرة. 5 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في تونس، المغرب، الجزائر، ألمانيا.
هل هذا أنت؟ عرّف بأبحاثك
أنشئ ملفك على DzCademia مجانًا وأضف مقالاتك: ستظهر بسهولة أكبر على Google وفي مساعدي الذكاء الاصطناعي مثل ChatGPT، فيقرؤها ويستشهد بها عدد أكبر من الناس.
إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Nuclear Structure and Function
- Hereditary Neurological Disorders
- Neurogenetic and Muscular Disorders Research
المنشورات (34)
- A recurrent homozygous LMNA missense variant p. Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
- MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells
- FANCA Gene Mutations in North African Fanconi Anemia Patients
- Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype
- MG132 induces progerin clearance and improves disease phenotypes in fibroblasts of patients affected with Hutchinson-Gilford Progeria-like syndromes
- Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young
- Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family
- A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
- Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype
- A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide withRAF1S259Y neomutation
- International Symposium on Xeroderma Pigmentosum and other Nucleotide Excision Repair Disorders Downing College, University of Cambridge, Cambridge, UK. 20–22 March 2019
- Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features
- Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
- De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
- Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome
- Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells
- A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family
- Le profil clinique, évolutif, électrophysiologique et anatomopathologique de la maladie de Charcot-Marie-Tooth (CMT) à transmission autosomale récessive liée aux gènes GDAP1, MTMR2 et FGD4/FRABIN
- An inherited LMNA gene mutation in atypical Progeria syndrome
- Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna R298C/R298C
- Two novel missense mutations in FGD4/FRABIN cause Charcot‐Marie‐Tooth type 4H (CMT4H)
- La neuropathie avec cataracte congénitale et dysmorphie faciale (CCFDN). Analyse moléculaire du gène CTDP1 chez des familles consanguines
- Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders
- Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes
- The Rare Codon 24 (T>A) (β+) Mutation in Association with the Common Codon 39 (C> T) (β0) Mutation Causes Transfusion-Dependent β-Thalassemia in a Moroccan Patient
- G.P.4.04 A new MTMR2 mutation is responsible for a congenital form of Charcot-Marie-Tooth disease (CMT4B1) and vocal cord paresis
- 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
- Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H
- β‐Thalassemia intermedia due to two novel mutations in the promoter region of the β‐globin gene
- G.P.4.02 Pathophysiological mechanisms of lamin A/C associated Charcot-Marie-Tooth disease (CMT2B1/ARCMT2)
- Formes autosomales récessives de la maladie de Charcot-Marie-Tooth
- Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
- 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
- The phenotypic manifestations of autosomal recessive axonalCharcot–Marie–Tooth due to a mutation in Lamin A/C gene
مجلات النشر
- Neuromuscular Disorders × 4
- Frontiers in Genetics × 3
- American Journal of Medical Genetics Part A × 2
- Cells × 2
- Journal of Human Genetics × 2
- Annals of Human Genetics × 2
المنشورات حسب السنة
- 20231
- 20221
- 20213
- 20202
- 20194
- 20182
- 20172
- 20161
- 20132
- 20124
التعاون العلمي
المؤسسات الشريكة : Génétique Médicale & Génomique Fonctionelle · Centre National de la Recherche Scientifique · Institut de Myologie · Université Pierre-et-Marie-Curie · Genethon (France)
بلدان المؤلفين المشاركين : تونس · المغرب · الجزائر · ألمانيا
المؤلفون المشاركون
- Annachiara De Sandre‐Giovannoli
- Valérie Delague
- Djamel Grid
- Sahar Elouej
- Yannick Poitelon
- Arnaud Lagarde
- Rafaëlle Bernard
- Tarik Hamadouche
- Stéphane Zaffran
- Karim Harhouri
- Cécile Baudot
- Catherine Bartoli
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
لماذا تختارون Dzcademia؟
ملفات أكاديمية ومقالات ومداخلات علمية: امنحوا أبحاثكم حضوراً عاماً منظماً. تساعد البيانات الوصفية المدمجة محركات البحث ومساعدات الذكاء الاصطناعي على التعرف على أعمالكم وفهم مراجعها.
علّق عبر Google
سجّل الدخول عبر Google للتعليق مباشرة على هذه الصفحة.