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A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

artículo científico

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders

artículo científico publicado en 2009

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

artículo científico publicado en 2018

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion

artículo científico publicado en 2011

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

artículo científico publicado en 2018

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

artículo científico publicado en 2018

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

artículo científico publicado en 2013

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

artículo científico publicado en 2017

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

artículo científico publicado en 2011

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

artículo científico publicado en 2016

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

artículo científico publicado en 2012

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

scholarly article by Rosalba Carrozzo published in September 2014

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

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