Benedetta Nacmias Selected Research

Spastic Paraparesis

1/2017

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

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Benedetta Nacmias Research Topics

Disease

65	Alzheimer Disease (Alzheimer's Disease) 08/2022 - 08/2002
14	Frontotemporal Dementia (Semantic Dementia) 01/2022 - 01/2012
10	Dementia (Dementias) 01/2022 - 01/2014
9	Cognitive Dysfunction 08/2022 - 01/2007
9	Feeding and Eating Disorders (Eating Disorder) 01/2017 - 04/2002
6	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2021 - 01/2017
6	Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar) 01/2018 - 01/2012
5	Multiple Sclerosis 01/2022 - 04/2004
4	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 12/2002
3	Anorexia 01/2020 - 06/2004
3	Anorexia Nervosa 01/2019 - 07/2004
3	Disease Progression 03/2015 - 12/2002
2	Progressive Supranuclear Palsy (Steele Richardson Olszewski Syndrome) 01/2021 - 03/2015
2	Starvation 01/2020 - 04/2005
2	Mental Disorders (Mental Disorder) 01/2019 - 10/2010
2	Memory Disorders (Memory Loss) 01/2018 - 01/2007
2	Asymptomatic Diseases 03/2015 - 02/2012
2	Neuroblastoma 04/2012 - 06/2010
2	Atrophy 01/2011 - 11/2006
2	Obesity 12/2010 - 04/2005
2	Relapsing-Remitting Multiple Sclerosis 12/2009 - 04/2004
2	Bulimia Nervosa 04/2006 - 07/2004
2	Body Weight (Weight, Body) 04/2005 - 06/2004
1	Prodromal Symptoms 08/2022
1	Normal Pressure Hydrocephalus 06/2022
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2022
1	Brain Injuries (Brain Injury) 01/2022
1	Corticobasal Degeneration 01/2021
1	Sporadic Creutzfeldt-Jakob Disease 01/2021
1	Synucleinopathies 01/2021
1	Hemorrhagic Stroke 01/2021
1	Mixed Dementias 01/2021
1	Genetic Risk Score 01/2021
1	Stroke (Strokes) 01/2021
1	Primary Progressive Aphasia 12/2020
1	Dyslipidemias (Dyslipidemia) 05/2020
1	Heart Diseases (Heart Disease) 05/2020
1	Hematoma 01/2020
1	Aphasia (Dysphasia) 05/2019
1	Obstructive Sleep Apnea 01/2018
1	Spastic Paraparesis 01/2017
1	Pediatric Obesity 09/2016
1	Motor Neuron Disease (Primary Lateral Sclerosis) 03/2015
1	Huntington Disease (Huntington's Disease) 01/2015
1	Disease Susceptibility (Diathesis) 09/2014

Drug/Important Bio-Agent (IBA)

19	Biomarkers (Surrogate Marker)IBA 08/2022 - 12/2009
17	Apolipoproteins E (ApoE)IBA 01/2022 - 02/2004
13	Amyloid (Amyloid Fibrils)IBA 04/2022 - 01/2008
9	Brain-Derived Neurotrophic Factor (BDNF)IBA 01/2022 - 03/2004
9	ApolipoproteinsIBA 01/2019 - 04/2004
8	Proteins (Proteins, Gene)FDA Link 01/2019 - 11/2002
6	Presenilin-1IBA 01/2018 - 11/2003
5	LipidsIBA 09/2019 - 06/2010
4	Flavin-Adenine Dinucleotide (FAD)IBA 01/2018 - 11/2002
4	Phosphotransferases (Kinase)IBA 01/2018 - 11/2007
4	Peptides (Polypeptides)IBA 01/2014 - 10/2009
3	Biological ProductsIBA 01/2022 - 10/2009
3	ProgranulinsIBA 05/2019 - 01/2012
3	sortilinIBA 01/2018 - 10/2009
3	CalciumIBA 01/2017 - 01/2010
3	Nerve Growth Factors (Neurotrophins)IBA 10/2010 - 05/2008
3	Amyloid beta-PeptidesIBA 10/2009 - 11/2003
2	CytokinesIBA 08/2020 - 12/2008
2	Carrier Proteins (Binding Protein)IBA 01/2019 - 01/2009
2	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 11/2014
2	Presenilin-2IBA 01/2018 - 11/2003
2	Codon (Codons)IBA 01/2017 - 01/2006
2	Biological FactorsIBA 01/2017 - 10/2010
2	Glucocorticoid Receptors (Glucocorticoid Receptor)IBA 09/2016 - 12/2010
2	Serotonin Plasma Membrane Transport Proteins (Serotonin Transporter)IBA 07/2012 - 03/2011
2	CholesterolIBA 02/2011 - 05/2006
2	Leucine (L-Leucine)FDA Link 01/2010 - 11/2007
2	Nerve Growth Factor (NGF)IBA 09/2008 - 05/2008
2	5-HT2A Serotonin Receptor (5 HT2A Receptor)IBA 07/2004 - 04/2002
1	Neuroprotective AgentsIBA 01/2022
1	sharpinIBA 01/2021
1	SynucleinsIBA 01/2021
1	alpha-SynucleinIBA 01/2021
1	15-phenyl-beta-methylpentadecanoic acidIBA 12/2020
1	Natriuretic AgentsIBA 06/2020
1	Sirtuin 1IBA 01/2020
1	Untranslated RNA (Noncoding RNA)IBA 10/2018
1	HLA-DRB1 Chains (HLA DRB1)IBA 10/2018
1	DNA-Binding Proteins (DNA Binding Protein)IBA 01/2018
1	T-Cell Intracellular Antigen-1IBA 01/2018
1	Nonsense Codon (Nonsense Mutation)IBA 09/2017
1	Adenosine Triphosphate (ATP)IBA 09/2017
1	florbetapirIBA 01/2017
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2017
1	Prion ProteinsIBA 01/2016
1	Phospholipases (Phospholipase)IBA 12/2015
1	GranulinsIBA 03/2015
1	AntibodiesIBA 01/2015
1	hydrogen sulfite (bisulfite)IBA 11/2014
1	Lipid Bilayers (Lipid Bilayer)IBA 01/2014

Therapy/Procedure

3	Therapeutics 11/2021 - 01/2008
1	Neurosurgical Procedures 01/2022
1	Critical Care (Surgical Intensive Care) 01/2022
1	Stroke Rehabilitation 01/2021
1	Transplantation 01/2015