الرئيسية › دليل الباحثين › Guy Lenaers
Guy Lenaers
الانتماء : Centre National de la Recherche Scientifique · Inserm · Centre Hospitalier Universitaire d'Angers · Mitochondrial and Cardiovascular Physiopathology · Université d'Angers
- 56منشورات (انتماء فرنسي)
- 349مجموع المنشورات
- 14090الاستشهادات
- 57مؤشر h
الملف البحثي
لدى Guy Lenaers 56 منشور(ات) مفهرسة (2006–2026). تُنشر أعماله أساسًا في «Figshare»، «Molecular Biology Reports» و«Brain Communications». أكثر مقالاته استشهادًا هو «Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies» (2015)، وقد استُشهد به 75 مرة. 13 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في المغرب، تونس، سنغافورة، الولايات المتحدة.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Glaucoma and retinal disorders
- Retinal Development and Disorders
- Metabolism and Genetic Disorders
المنشورات (56)
- Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients
- Genetic diversity of Usher syndrome in Moroccan patients
- Clinical and Genetic Spectrum of ACO2 -Linked Dominant Optic Atrophy
- Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion
- Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort
- Pathophysiological insights into ACO2-related inherited disorders through combined functional and multi-omic analyses of ACO2 patient-derived fibroblasts
- Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation
- A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders
- Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families
- Identification of the Genetic Causes of Inherited Diseases in a North African Biobank: Implications for Genetic Diagnosis
- The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice
- Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
- Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
- Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm
- Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome
- A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias
- A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant
- GNE Myopathy and Duchenne Muscular Dystrophy in Two Moroccans Families
- Novel variant in Moroccan patient with hereditary spastic paraplegia type 35
- The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
- A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability
- Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment
- Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy
- First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta
- Syndromic Hearing Loss in Moroccan families is associated to homozygous missense variants in COL4A3 and MASP1
- Additional file 5 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
- Additional file 2 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
- Additional file 6 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
- Additional file 4 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
- Additional file 3 of Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
- DominantACO2mutations are a frequent cause of isolated optic atrophy
- Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model
- Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy
- Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
- Characterization of SSBP1-related optic atrophy and foveopathy
- Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
- ACO2 clinicobiological dataset with extensive phenotype ontology annotation
- Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
- A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY
- A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family
- Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases
- First characterization of LHON pedigrees in North Africa
- Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
- Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families
- Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family
- Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
- Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration
- Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
- Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
- A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
- Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population
- Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss
- Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss
- Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss
- Homozygous Deletion Related to Alu Repeats in RLBP1 Causes Retinitis Punctata Albescens
مجلات النشر
- Figshare × 5
- Molecular Biology Reports × 3
- Brain Communications × 3
- Mitochondrion × 2
- Scientific Reports × 2
- Brain × 2
المنشورات حسب السنة
- 20266
- 20254
- 20243
- 20236
- 202212
- 20217
- 20205
- 20181
- 20173
- 20161
التعاون العلمي
المؤسسات الشريكة : Mohamed I University · Institute for Neurosciences of Montpellier · Institut Pasteur du Maroc · Université de Montpellier · Institut Pasteur
بلدان المؤلفين المشاركين : المغرب · تونس · سنغافورة · الولايات المتحدة
المؤلفون المشاركون
- Majida Charif
- Aymane Bouzidi
- Patrizia Amati‐Bonneau
- Ghita Amalou
- Valérie Desquiret‐Dumas
- Pascal Reynier
- Dominique Bonneau
- Céline Bris
- Isabelle Meunier
- Vincent Procaccio
- David Goudenège
- Naïg Guéguen
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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