User profiles for "author:Michelangelo Mancuso"

michelangelo mancuso

Neurological Clinic, AOUP & University of Pisa, Italy
Verified email at ao-pisa.toscana.it
Cited by 29853

Sarcopenia: a time for action. An SCWD position paper

J Bauer, JE Morley, AMWJ Schols… - Journal of cachexia …, 2019 - Wiley Online Library
The term sarcopenia was introduced in 1988. The original definition was a “muscle loss” of
the appendicular muscle mass in the older people as measured by dual energy x‐ray …

[HTML][HTML] Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm… - Genetics in …, 2017 - Elsevier
The purpose of this statement is to provide consensus-based recommendations for optimal
management and care for patients with primary mitochondrial disease. This statement is …

Mitochondrial disease in adults: recent advances and future promise

YS Ng, LA Bindoff, GS Gorman, T Klopstock… - The Lancet …, 2021 - thelancet.com
Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

JC Lambert, CA Ibrahim-Verbaas, D Harold, AC Naj… - Nature …, 2013 - nature.com
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by
previous studies; however, a large portion of the genetic risk for this disease remains …

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

JC Lambert, S Heath, G Even, D Campion, K Sleegers… - Nature …, 2009 - nature.com
The gene encoding apolipoprotein E (APOE) on chromosome 19 is the only confirmed
susceptibility locus for late-onset Alzheimer's disease. To identify other risk loci, we …

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

P Hollingworth, D Harold, R Sims, A Gerrish… - Nature …, 2011 - nature.com
We sought to identify new susceptibility loci for Alzheimer's disease through a staged
association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's …

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

E Genin, D Hannequin, D Wallon, K Sleegers… - Molecular …, 2011 - nature.com
Apolipoprotein E (APOE) dependent lifetime risks (LTRs) for Alzheimer Disease (AD) are
currently not accurately known and odds ratios alone are insufficient to assess these risks …

Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease

F Bosetti, F Brizzi, S Barogi, M Mancuso, G Siciliano… - Neurobiology of …, 2002 - Elsevier
Evidence suggests that mitochondrial dysfunction is prominent in Alzheimer's disease (AD).
A failure of one or more of the mitochondrial electron transport chain enzymes or of F1F0 …

Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)

G Meola, V Sansone, D Perani, S Scarone… - Neuromuscular …, 2003 - Elsevier
A previous study in proximal myotonic myopathy (PROMM/DM-2) and myotonic dystrophy
type 1 (DM-1) using brain positron emission tomography demonstrated a reduced cerebral …

An international classification of inherited metabolic disorders (ICIMD)

CR Ferreira, S Rahman, M Keller… - Journal of inherited …, 2021 - Wiley Online Library
Several initiatives at establishing a classification of inherited metabolic disorders have been
published previously, some focusing on pathomechanisms, others on clinical …