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Emanuela Piermarini Selected Research

Type 1 Kenny-Caffey syndrome

10/2016TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

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Emanuela Piermarini Research Topics

Disease

6Neurodegenerative Diseases (Neurodegenerative Disease)
12/2016 - 04/2013
4Friedreich Ataxia (Friedreich's Ataxia)
10/2017 - 04/2013
1Nervous System Diseases (Neurological Disorders)
01/2022
1Memory Disorders (Memory Loss)
11/2021
1Hereditary Spastic Paraplegia
01/2019
1Optic Atrophy
10/2016
1Atrophy
10/2016
1Brain Diseases (Brain Disorder)
10/2016
1Hypoparathyroidism
10/2016
1Intellectual Disability (Idiocy)
10/2016
1Microcephaly
10/2016
1Type 1 Kenny-Caffey syndrome
10/2016
1Quadriplegia (Spastic Quadriplegia)
10/2016
1Seizures (Absence Seizure)
10/2016
1Pathologic Processes
01/2015
1Nervous System Heredodegenerative Disorders
04/2014

Drug/Important Bio-Agent (IBA)

4FrataxinIBA
10/2017 - 04/2013
2TubulinIBA
10/2016 - 10/2016
2IronIBA
04/2014 - 04/2013
1Proteins (Proteins, Gene)FDA Link
01/2019
1SpastinIBA
01/2019
1AntioxidantsIBA
10/2017
1Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA
10/2016
1Protein Isoforms (Isoforms)IBA
10/2016
1Biomarkers (Surrogate Marker)IBA
01/2015
1Mitochondrial Proteins (Mitochondrial Protein)IBA
04/2013

Therapy/Procedure

2Therapeutics
11/2021 - 12/2016
1Precision Medicine
01/2022