P P Pramstaller
Overview
Explore the profile of P P Pramstaller including associated specialties, affiliations and a list of published articles.
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53
Citations
985
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Recent Articles
1.
Benzoni P, Arici M, Giannetti F, Cospito A, Prevostini R, Volani C, et al.
Acta Physiol (Oxf)
. 2024 May;
240(8):e14160.
PMID: 38747650
Aim: Striatin (Strn) is a scaffold protein expressed in cardiomyocytes (CMs) and alteration of its expression are described in various cardiac diseases. However, the alteration underlying its pathogenicity have been...
2.
Fazzini F, Lamina C, Raftopoulou A, Koller A, Fuchsberger C, Pattaro C, et al.
J Intern Med
. 2021 Jan;
290(1):190-202.
PMID: 33453124
Background: Mitochondria play an important role in cellular metabolism, and their dysfunction is postulated to be involved in metabolic disturbances. Mitochondrial DNA is present in multiple copies per cell. The...
3.
Peronio P, Labanca I, Acconcia G, Ruggeri A, Lavdas A, Hicks A, et al.
Rev Sci Instrum
. 2017 Sep;
88(8):083704.
PMID: 28863689
Time-Correlated Single Photon Counting (TCSPC) is a very efficient technique for measuring weak and fast optical signals, but it is mainly limited by the relatively "long" measurement time. Multichannel systems...
4.
Sun M, Jobling M, Taliun D, Pramstaller P, Egeland T, Sheehan N
Theor Popul Biol
. 2015 Oct;
107:14-25.
PMID: 26474828
There has been recent interest in the exploitation of readily available dense genome scan marker data for the identification of relatives. However, there are conflicting findings on how informative these...
5.
Giannini G, Zanigni S, Melotti R, Gogele M, Provini F, Facheris M, et al.
Eur J Neurol
. 2013 Aug;
21(1):72-8.
PMID: 23906194
Background And Purpose: Restless legs syndrome (RLS) is a sleep-related movement disorder characterized by an irresistible urge to move the legs accompanied by paresthesia and/or dysesthesia that begins or worsens...
6.
Allebrandt K, Amin N, Muller-Myhsok B, Esko T, Teder-Laving M, Azevedo R, et al.
Mol Psychiatry
. 2011 Nov;
18(1):122-32.
PMID: 22105623
Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with metabolic syndrome and psychiatric disorders suggests that the...
7.
Machner B, Klein C, Sprenger A, Baumbach P, Pramstaller P, Helmchen C, et al.
Neurology
. 2010 Jul;
75(2):125-8.
PMID: 20625164
Objectives: Parkin gene mutations are the most common cause of early-onset parkinsonism. Patients with Parkin mutations may be clinically indistinguishable from patients with idiopathic early-onset Parkinson disease (EOPD) without Parkin...
8.
Reetz K, Siebner H, Gaser C, Hagenah J, Buechel C, Kasten M, et al.
Open Neuroimag J
. 2009 Jun;
2:102-5.
PMID: 19526072
In the present voxel-based morphometric study, we investigated whether the severity and duration of disease are associated with alterations in gray matter volume (GMV) in symptomatic Parkin mutation carriers (sPARKIN-MC)...
9.
van Nuenen B, Weiss M, Bloem B, Reetz K, van Eimeren T, Lohmann K, et al.
Neurology
. 2008 Nov;
72(12):1041-7.
PMID: 19038850
Objective: To use a combined neurogenetic-neuroimaging approach to examine the functional consequences of preclinical dopaminergic nigrostriatal dysfunction in the human motor system. Specifically, we examined how a single heterozygous mutation...
10.
Facheris M, Vogl F, Hollmann S, Sixt G, Pattaro C, Schonhuber R, et al.
Eur J Neurol
. 2008 Aug;
15(10):1071-4.
PMID: 18715259
Background And Purpose: The hypothesis of a genetic component in the etiology of migraine is getting a foothold. However, to explore genetic associations, precision in clinical phenotypization is crucial. For...