Results 121 to 130 of about 9,561,546 (382)

An integrated transcriptomics and proteomics analysis reveals functional endocytic dysregulation caused by mutations in LRRK2

Neurobiology of Disease, 2019
Background: Mutations in LRRK2 are the most common cause of autosomal dominant Parkinson's disease, and the relevance of LRRK2 to the sporadic form of the disease is becoming ever more apparent.
Natalie Connor-Robson, Heather Booth, Jeffrey G. Martin, Benbo Gao, Kejie Li, Natalie Doig, Jane Vowles, Cathy Browne, Laura Klinger, Peter Juhasz, Christine Klein, Sally A. Cowley, Paul Bolam, Warren Hirst, Richard Wade-Martins   +14 more
doaj   +1 more source

Acting without being in control: Exploring volition in Parkinson's disease with impulsive compulsive behaviours. [PDF]

, 2017
BACKGROUND: Several aspects of volitional control of action may be relevant in the pathophysiology of impulsive-compulsive behaviours (ICB) in Parkinson's disease (PD).
de Boer, L, Edwards, MJ, Haggard, P, Morgante, F, Ricciardi, L, Sorbera, C, Stenner, M-P   +6 more
core   +2 more sources

Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato, Takayuki Abe, Sho Aoki, Setsuki Tsukagoshi, Yasushi Yuminaka, Yoshio Ikeda   +5 more
wiley   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Thalamic Deep Brain Stimulation for Orthostatic Tremor

Tremor and Other Hyperkinetic Movements, 2011
Background: Orthostatic tremor is an uncommon disorder manifest by high frequency, low amplitude leg tremor upon weight bearing. Treatment with oral tremor agents is inconsistent and usually not satisfactory.
Toby C. Yaltho, William G. Ondo
doaj   +1 more source

Wearable Platform for Automatic Recognition of Parkinson Disease by Muscular Implication Monitoring [PDF]

, 2017
The need for diagnostic tools for the characterization of progressive movement disorders - as the Parkinson Disease (PD) - aiming to early detect and monitor the pathology is getting more and more impelling.
Annese, V.F., De Venuto, D., Gallo, V.L., Mezzina, G., Scarola, V.   +4 more
core   +1 more source

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

Pathogenesis and pathophysiology of functional (psychogenic) movement disorders

Neurobiology of Disease, 2019
Functional movement disorders (FMDs), known over time as “hysteria”, “dissociative”, “conversion”, “somatoform”, “non-organic” and “psychogenic” disorders, are characterized by having a voluntary quality, being modifiable by attention and distraction but
José Fidel Baizabal-Carvallo, Mark Hallett, Joseph Jankovic   +2 more
doaj   +1 more source

On the analysis of EEG power, frequency and asymmetry in Parkinson's disease during emotion processing [PDF]

, 2014
Objective: While Parkinson’s disease (PD) has traditionally been described as a movement disorder, there is growing evidence of disruption in emotion information processing associated with the disease.
Ibrahim, Norlinah Mohamed, Mesquita, Edgar, Mohamad, Khairiyah, Murugappan, Murugappan, Omar, Mohd Iqbal, Palaniappan, Ramaswamy, Satiyan, Marimuthu, Sundaraj, Kenneth, Yuvaraj, Rajamanickam   +8 more
core   +2 more sources

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno, Giovanni Ermanis, Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, Enrico Belgrado, Elena Betto, Gian Luigi Gigli, David De Monte, Marco Domenico Scanni, Marco Mucchiut, Giuseppe Damante, Mariarosaria Valente, Francesco Janes   +13 more
wiley   +1 more source