about
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationSDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyMutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and fliesHereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsSequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?Adult-onset leukodystrophies from respiratory chain disorders: do they exist?Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersL-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.Infantile mitochondrial encephalopathy.Mitochondrial dysfunction in central nervous system white matter disorders.Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.Childhood cerebral X-linked adrenoleukodystrophy more than 5 years after hematopoietic cell transplantation: the first case from Serbia and southeastern Europe.Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials.Identification of novel mutations in five patients with mitochondrial encephalomyopathy.Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.Rhythmic cortical myoclonus in Niemann-Pick disease type C.Effects of riboflavin in children with complex II deficiency.Brain fluorodeoxyglucose PET in adrenoleukodystrophy.
P50
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P50
name
Graziella Uziel
@en
type
label
Graziella Uziel
@en
prefLabel
Graziella Uziel
@en