about
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiencyMolecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.COL4A1 mutation revealed by an isolated brain hemorrhage.First characterization of a large deletion of the PDHA 1 gene.COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.A new form of leukoencephalopathy with calcifications and cysts with nonrecessive inheritance and absence of gadolinium enhancement.Late diagnosis of COL4A1 mutation and problematic vascular risk factor management.Amyloid imaging by 18F-florbetaben PET in a patient with isolated microbleeds and leukoencephalopathy.COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathyFetal intracerebral hemorrhage and cataract: think COL4A1Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patientsIsolated Lacunar Infarct: An Early Clinical Presentation of CADASIL?A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertaintyAcute urinary retention due to a novel collagen COL4A1 mutationOptical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-8682-6660
@en
name
Manuèle Miné
@ast
Manuèle Miné
@en
Manuèle Miné
@nl
type
label
Manuèle Miné
@ast
Manuèle Miné
@en
Manuèle Miné
@nl
prefLabel
Manuèle Miné
@ast
Manuèle Miné
@en
Manuèle Miné
@nl
P106
P31
P496
0000-0001-8682-6660