FLAVIA PALOMBO

IRCCS Istituto Delle Scienze Neurologiche di Bologna

Italy

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Articles (10)

Year:

2024

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Collaborators (4)

Enrico Baruffini

Researcher, assistant professor

Università degli Studi di Pavia

ITALY

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SARA DE FANTI

ITALY

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Andrea Mastrangelo

University of Bologna

ITALY

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Arturo Carta

associate professor in ophthalmology

ITALY

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FLAVIA PALOMBO

Research Interests

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Articles (10)

AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype–Phenotype Characterization Compared to OPA1 Patients

Progressive Ataxia and Palatal Tremor Is Not Associated with IgLON5 Antibodies: Results From Two Cases

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

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

Expanding the Clinical Spectrum of <i>UBTF</i>-Related Neurodevelopmental Disorder.

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.

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

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

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

A Second Case With the V374A <i>KCND3</i> Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.

Collaborators (4)

Enrico Baruffini

SARA DE FANTI

Andrea Mastrangelo

Arturo Carta

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