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Federica Natacci Selected Research

Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)

3/2014Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis.

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Federica Natacci Research Topics

Disease

4Neurofibromatosis 1 (Neurofibromatosis Type I)
11/2019 - 11/2003
3Neoplasms (Cancer)
08/2023 - 06/2009
2Neurofibroma
11/2019 - 01/2019
1Vision Disorders (Hemeralopia)
11/2023
1Strabismus (Squint)
11/2023
1Refractive Errors (Refractive Error)
11/2023
1Aneuploidy (Aneuploid)
08/2023
1Chromosomal Instability (Chromosome Stability)
08/2023
1Astrocytoma (Pilocytic Astrocytoma)
11/2019
1Optic Nerve Glioma
11/2019
1Neurofibrosarcoma (MPNST)
11/2019
1Plexiform Neurofibroma
11/2019
1Legius syndrome
11/2017
1Intellectual Disability (Idiocy)
11/2015
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
03/2014
1Epilepsy (Aura)
04/2012
1Megalencephaly
02/2011
1Spondyloperipheral dysplasia short ulna
02/2011
1Cardiovascular Diseases (Cardiovascular Disease)
02/2011
1Hypertension (High Blood Pressure)
02/2011
1Sensorineural Hearing Loss
02/2011
1Diverticular Diseases
02/2011
1Achondroplasia
03/2008

Drug/Important Bio-Agent (IBA)

2Neurofibromin 1 (Neurofibromin)IBA
08/2023 - 06/2009
1Retinaldehyde (Retinal)IBA
11/2023
1Drug CombinationsIBA
08/2023
1Reactive Oxygen Species (Oxygen Radicals)IBA
08/2023
1MicroRNAs (MicroRNA)IBA
11/2019
1Long Noncoding RNAIBA
11/2019
1Untranslated RNA (Noncoding RNA)IBA
11/2019
1Cholecalciferol (Vitamin D3)FDA Link
01/2019
1CalciumIBA
01/2019
1Amino AcidsFDA Link
11/2015
1Choline O-Acetyltransferase (Choline Acetyltransferase)IBA
03/2014
1HeterochromatinIBA
04/2012
1dimemorfan (AT 17)IBA
02/2011
1CollagenIBA
02/2011
1Glucose (Dextrose)FDA LinkGeneric
02/2011
1Proteins (Proteins, Gene)FDA Link
06/2009
1DNA (Deoxyribonucleic Acid)IBA
03/2008
1Complementary DNA (cDNA)IBA
11/2003

Therapy/Procedure

1Lasers (Laser)
11/2017