about
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type CNeurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.Mitochondrial dysfunction in central nervous system white matter disorders."Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.Double-trouble in pediatric neurology: Myotonia congenita combined with charcot-marie-tooth disease type 1a
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Anna Ardissone
@ast
Anna Ardissone
@en
Anna Ardissone
@es
Anna Ardissone
@nl
type
label
Anna Ardissone
@ast
Anna Ardissone
@en
Anna Ardissone
@es
Anna Ardissone
@nl
prefLabel
Anna Ardissone
@ast
Anna Ardissone
@en
Anna Ardissone
@es
Anna Ardissone
@nl
P106
P1153
26646312900
P21
P31
P496
0000-0003-1969-0147