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View article: Impact of <scp>SDHA</scp> Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes
Impact of <span>SDHA</span> Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes Open
We present the case of a child who developed focal seizures, emotional and behavioral dysregulation, and sleep abnormalities at age 5. Trio whole genome sequencing identified biallelic mutations in the SDHA gene, which encodes a key compon…
View article: Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort Open
View article: Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene Open
Background Mitochondria adjust their shape in response to the different energetic and metabolic requirements of the cell, through extremely dynamic fusion and fission events. Several highly conserved dynamin-like GTPases are involved in th…
View article: Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae Open
Genetic defects in the nuclear encoded subunits and assembly factors of cytochrome c oxidase (mitochondrial complex IV) are very rare and are associated with a wide variety of phenotypes. Biallelic pathogenic variants in the COX11 protein …
View article: Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes Open
Cardiomyopathies are mostly determined by genetic mutations affecting either cardiac muscle cell structure or function. Nevertheless, cardiomyopathies may also be part of complex clinical phenotypes in the spectrum of neuromuscular (NMD) o…
View article: A Multisystem Mitochondrial Disease Caused by a Novel <i>MT-TL1 mtDNA</i> Variant: A Case Report
A Multisystem Mitochondrial Disease Caused by a Novel <i>MT-TL1 mtDNA</i> Variant: A Case Report Open
Background: Mitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations are associated with a broad spectrum of phenotype often with complex multisystem involve…
View article: Long term follow-up in two siblings with Sengers syndrome: Case report
Long term follow-up in two siblings with Sengers syndrome: Case report Open
View article: The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study Open
Mitochondrial diseases (MDs) are a large group of genetically determined multisystem disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual genomic control (nuclear and mitochondrial DNA) of the mito…
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View article: Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report Open
View article: A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly Open
View article: Expanding the clinical and genetic heterogeneity of SPAX5
Expanding the clinical and genetic heterogeneity of SPAX5 Open
Mutations in the ATPase family 3‐like gene ( AFG3L2 ) have been linked to autosomal‐dominant spinocerebellar ataxia type 28 and autosomal recessive spastic ataxia‐neuropathy syndrome. Here, we describe the case of a child carrying bi‐allel…
View article: Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction
Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction Open
View article: VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype Open
Given the paucity of clinical data about this very rare mitochondrial encephalopathy, our report might contribute to broaden the phenotypic spectrum of the disorder. Moreover, noteworthy, three out of five pedigrees so far described belong…
View article: Teaching NeuroImages: Leigh-like features expand the picture of <i>PMPCA</i> -related disorders
Teaching NeuroImages: Leigh-like features expand the picture of <i>PMPCA</i> -related disorders Open
A 7-year-old boy was referred at age 24 months with failure to thrive, global psychomotor delay, and spastic-ataxic gait with bilateral Babinski sign. Last examination revealed a further psychomotor regression and low IQ. The child could n…
View article: Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome
Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome Open
Introduction: There are several reported cases of patients developing motor and cognitive neurological impairment under treatment with valproic acid (VPA). We describe a woman who developed a subacute encephalopathy after VPA intake…
View article: Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome Open
View article: Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VI
Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VI Open
Unlike the previous HSAN-VI family, our description indicates that DST mutations may be associated with a nonlethal and nonsyndromic phenotype. Neuronal loss affects large and small sensory nerve fibers as well as autonomic ones. In…
View article: Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation Open
View article: A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease
A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease Open
View article: MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach
MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach Open
A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutat…
View article: Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy Open
FIGURE 1. Amage benhami sp. nov. holotype (SMF 17813): a: lateral overview, b: prostomium with two conspicuous anterolateral horns, c: schematic drawing showing arrangement of branchiae, d: thoracic uncinus, lateral view, e: thoracic uncin…