Mariangela Lo Giudice Selected Research

Hydrocephalus (Hydrocephaly)

4/2010

A novel L1CAM mutation in a fetus detected by prenatal diagnosis.

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Mariangela Lo Giudice Research Topics

Disease

2	Ophthalmoplegia (External Ophthalmoplegia) 04/2023 - 04/2015
2	Ataxia Neuropathy Spectrum 04/2023 - 04/2015
2	Dysarthria (Spastic Dysarthria) 04/2023 - 04/2015
2	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 04/2023 - 04/2015
2	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease) 04/2023 - 04/2015
2	Hearing Loss (Hearing Impairment) 02/2023 - 07/2013
2	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 02/2023 - 08/2010
1	Aromatic amino acid decarboxylase deficiency 01/2024
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 04/2023
1	Epilepsy (Aura) 04/2023
1	Intellectual Disability (Idiocy) 02/2023
1	Sensorineural Hearing Loss 02/2023
1	Muscular Diseases (Myopathy) 02/2023
1	Quadriplegia (Spastic Quadriplegia) 02/2023
1	Vomiting 02/2023
1	Epilepsia Partialis Continua 02/2023
1	MELAS Syndrome (Syndrome, MELAS) 02/2023
1	Cytochrome-c Oxidase Deficiency 02/2023
1	Ataxia (Dyssynergia) 04/2015
1	Spinocerebellar Ataxia with Epilepsy 04/2015
1	Double cortex 08/2010
1	Hydrocephalus (Hydrocephaly) 04/2010
1	Hereditary Spastic Paraplegia 02/2006
1	Spastic Paraparesis 02/2006

Drug/Important Bio-Agent (IBA)

3	Mitochondrial DNA (mtDNA)IBA 04/2023 - 07/2013
1	EnzymesIBA 01/2024
1	AminoglycosidesIBA 02/2023
1	AnticodonIBA 02/2023
1	Ser Transfer RNAIBA 02/2023
1	DNA (Deoxyribonucleic Acid)IBA 08/2010
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 04/2010
1	SpastinIBA 02/2006
1	KinesinsIBA 02/2006