Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Fachbereich
Pitié-Salpêtrière Hospital
París, FranciaPublikationen in Zusammenarbeit mit Forschern von Pitié-Salpêtrière Hospital (12)
2023
2022
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Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
2020
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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848
2019
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Nature Communications, Vol. 10, Núm. 1
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Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)
Nature Genetics
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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Nature Genetics, Vol. 51, Núm. 3, pp. 414-430
2017
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Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Neuromuscular Disorders, Vol. 27, Núm. 2, pp. 188-192
2015
2013
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082
2012
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Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk
Neurobiology of Aging, Vol. 33, Núm. 7, pp. 1487.e21-1487.e28