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Adriano Jimenez-Escrig Selected Research

Sneddon Syndrome (Syndrome, Sneddon)

3/2021A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.

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Adriano Jimenez-Escrig Research Topics

Disease

2Parkinson Disease (Parkinson's Disease)
01/2012 - 11/2007
1Stroke (Strokes)
03/2021
1Sneddon Syndrome (Syndrome, Sneddon)
03/2021
1Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder)
12/2018
1Huntington Disease (Huntington's Disease)
12/2018
1Neurodegenerative Diseases (Neurodegenerative Disease)
01/2014
1Muscular Dystrophies (Muscular Dystrophy)
04/2012
1Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy)
04/2012
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
04/2012
1Frontotemporal Dementia (Semantic Dementia)
03/2010
1Dementia (Dementias)
07/2005

Drug/Important Bio-Agent (IBA)

2albumin-bilirubin complexIBA
01/2014 - 01/2012
1Nonsense Codon (Nonsense Mutation)IBA
03/2021
1Epidermal Growth Factor (EGF)IBA
03/2021
1RNA (Ribonucleic Acid)IBA
12/2018
1Protein Sorting Signals (Signal Peptide)IBA
12/2018
1Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
12/2018
1Proteins (Proteins, Gene)FDA Link
04/2012
1Arginine (L-Arginine)FDA Link
04/2012
1Lamin Type A (Lamin A)IBA
04/2012
1Lamin Type B (Lamin B)IBA
04/2012
1DNA (Deoxyribonucleic Acid)IBA
04/2012
1ApomorphineFDA Link
01/2012
1ProgranulinsIBA
03/2010
1Apolipoprotein E3IBA
07/2005
1Apolipoproteins E (ApoE)IBA
07/2005
1ApolipoproteinsIBA
07/2005

Therapy/Procedure

2Therapeutics
01/2012 - 11/2007
1Transplantation
01/2012