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Mariangela Lo Giudice Selected Research

Spinocerebellar Ataxia with Epilepsy

4/2015The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

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Mariangela Lo Giudice Research Topics

Disease

1Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
04/2015
1Ataxia Neuropathy Spectrum
04/2015
1Ophthalmoplegia (External Ophthalmoplegia)
04/2015
1Dysarthria (Spastic Dysarthria)
04/2015
1Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
04/2015
1Spinocerebellar Ataxia with Epilepsy
04/2015
1Ataxia (Dyssynergia)
04/2015
1Hearing Loss (Hearing Impairment)
07/2013
1Double cortex
08/2010
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
08/2010
1Hydrocephalus (Hydrocephaly)
04/2010
1Spastic Paraparesis
02/2006
1Hereditary Spastic Paraplegia
02/2006

Drug/Important Bio-Agent (IBA)

2Mitochondrial DNA (mtDNA)IBA
04/2015 - 07/2013
1DNA (Deoxyribonucleic Acid)IBA
08/2010
1Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA
04/2010
1KinesinsIBA
02/2006
1SpastinIBA
02/2006