الرئيسية › دليل الباحثين › Alexandra Dürr
Alexandra Dürr
الانتماء : Centre National de la Recherche Scientifique · Inserm · Sorbonne Université · Assistance Publique – Hôpitaux de Paris · Pitié-Salpêtrière Hospital · Institut du Cerveau
- 37منشورات (انتماء فرنسي)
- 1109مجموع المنشورات
- 67793الاستشهادات
- 127مؤشر h
الملف البحثي
لدى Alexandra Dürr 37 منشور(ات) مفهرسة (1996–2021). تُنشر أعماله أساسًا في «Brain»، «The American Journal of Human Genetics» و«Neurogenetics». أكثر مقالاته استشهادًا هو «Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders» (2014)، وقد استُشهد به 540 مرة. 4 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في تونس، إيطاليا، الأرجنتين.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
المنشورات (37)
- Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
- Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
- Deciphering the natural history of SCA7 in children
- Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
- Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1
- SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families
- Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
- SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
- Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans
- Longitudinal changes in functional connectivity of cortico‐basal ganglia networks in manifests and premanifest huntington's disease
- Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
- D19 Longitudinal changes in functional connectivity of cortico-basal ganglia networks in manifest and premanifest huntington’s disease
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
- Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
- Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
- KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
- The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism
- Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
- Combination of Positional Cloning and New Generation Sequencing Identifies 3 Novel Genes in Spastic Paraplegia Involved in Common Metabolic Pathways (P01.205)
- REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
- Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
- Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
- Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
- CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
- Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome
- Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
- Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
- A novel locus for autosomal recessive spastic ataxia on chromosome 17p
- Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
- Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
- G2019S LRRK2 mutation in French and North African families with Parkinson's disease
- Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
- Levodopa-responsive dystonia
- De Novo Expansion of Intermediate Alleles in Spinocerebellar Ataxia 7
- Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families
- Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1
- Autosomal dominant cerebellar ataxia type I in Morocco: presence of the SCA1 and SCA3/MJD mutations
مجلات النشر
- Brain × 6
- The American Journal of Human Genetics × 5
- Neurogenetics × 3
- Human Molecular Genetics × 3
- Genetics in Medicine × 2
- European Journal of Neurology × 2
المنشورات حسب السنة
- 20211
- 20203
- 20181
- 20171
- 20166
- 20141
- 20134
- 20122
- 20111
- 20101
التعاون العلمي
المؤسسات الشريكة : Université Pierre-et-Marie-Curie · Hopital Universitaire Habib Bourguiba · Centre Hospitalier Universitaire d'Angers · Bambino Gesù Children's Hospital · Hebrew University of Jerusalem
بلدان المؤلفين المشاركين : تونس · إيطاليا · الأرجنتين
المؤلفون المشاركون
- Alexis Brice
- Giovanni Stévanin
- Perrine Charles
- Cyril Goizet
- Christine Tranchant
- Sylvie Forlani
- Michel Koenig
- Yves Agid
- Mathieu Anheim
- Fanny Mochel
- A. Boukhris
- Naïma Bouslam
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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