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F. Fortuna

University of Bologna

11

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188

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Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich’s Ataxia

2017 The Cerebellum
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Brain diffusion-weighted imaging in Friedreich's ataxia.

2011 Movement Disorders
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Increased Penetrance in Siblings of Affected Females in a Large Leber’s Hereditary Optic Neuropathy Pedigree From Brazil Is Not Reflected by the Frequency of Subclinical Abnormalities

2005 Investigative Ophthalmology & Visual Science
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Retinal Nerve Fiber Layer Thickness in Patients With Dominant Optic Atrophy (DOA) and Leber’s Hereditary Optic Neuropathy With DOA–Like Course

2005 Investigative Ophthalmology & Visual Science
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Characterization of optic neuropathy in Friedreich Ataxia.

2005 Neurological Sciences
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Leber’s hereditary optic neuropathy prevalent phenotype in a family segregating the G13042A/ND5 mtDNA point mutation.

2005
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Retinal Nerve Fiber Layer Thickness in Patients Showing Visual Recovery in Leber’s Hereditary Optic Neuropathy

2005 Investigative Ophthalmology & Visual Science
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The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

2005 Journal of Medical Genetics
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