Claudio Fiorini

发表

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

C. La Morgia, M. Montopoli, V. Carelli, 2022, Molecular medicine.

The role of mtDNA haplogroups on metabolic features in narcolepsy type 1

G. Plazzi, A. Torroni, C. La Morgia, 2022, Mitochondrion.

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

V. Carelli, V. Leuzzi, L. Caporali, 2020, Annals of clinical and translational neurology.

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia

C. La Morgia, V. Carelli, R. Liguori, 2022, Neurology. Genetics.

Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?

C. La Morgia, V. Carelli, R. Liguori, 2022, Journal of Neurology.

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

E. Bacchelli, A. Battaglia, E. Maestrini, 2022, Frontiers in Genetics.

Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant

M. Carbonelli, R. Lodi, C. La Morgia, 2022, Frontiers in Genetics.

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

E. Bacchelli, E. Maestrini, V. Carelli, 2021, Journal of cellular and molecular medicine.

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

V. Tiranti, V. Broccoli, V. Carelli, 2021, Stem cell reports.

Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population

G. Cerroni, E. Bonanni, S. Sorbi, 2021, GeroScience.

Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors

M. Sobrinho-Simões, G. Tallini, V. Carelli, 2021, The journal of pathology. Clinical research.

A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy

V. Carelli, F. Pisani, M. Capristo, 2021, American journal of medical genetics. Part A.

Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?

C. La Morgia, V. Carelli, R. Liguori, 2022, Journal of Neurology.

The pattern of retinal ganglion cell loss in Wolfram syndrome is distinct from mitochondrial optic neuropathies.

P. Barboni, M. Carbonelli, C. La Morgia, 2022, American journal of ophthalmology-glaucoma.

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

C. La Morgia, M. Montopoli, V. Carelli, 2022, Molecular Medicine.

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

P. Barboni, M. Carbonelli, C. La Morgia, 2023, Journal of medical genetics.

The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report

M. Valentino, L. Caporali, D. Ormanbekova, 2023, Frontiers in Genetics.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

R. Carrozzo, T. Arzberger, C. La Morgia, 2024, American journal of human genetics.