Results 51 to 60 of about 5,744 (198)
Phosphatidylserine Ameliorates Neurodegenerative Symptoms and Enhances Axonal Transport in a Mouse Model of Familial Dysautonomia. [PDF]
PLoS Genetics, 2016 Familial Dysautonomia (FD) is a neurodegenerative disease in which aberrant tissue-specific splicing of IKBKAP exon 20 leads to reduction of IKAP protein levels in neuronal tissues. Here we generated a conditional knockout (CKO) mouse in which exon 20 of
Shiran Naftelberg +12 more
doaj +1 more source
Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist [PDF]
, 2014 Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized.
Arie Oksenberg, Natan Gadoth
core +1 more source
Movement Disorders, EarlyView.Abstract Background Anxiety and autonomic dysfunction are frequent non‐motor symptoms of Parkinson's disease (PD). Their relationship, as well as the neural mechanisms underlying this relationship, remain unexplored. Objectives We aimed to investigate the relationship between cardiovascular functions and anxiety in PD and the structural neural changes ...
Lucia Ricciardi +9 more
wiley +1 more source
Neural Regeneration Research, 2017 Familial dysautonomia (FD) is a rare children neurodegenerative disease caused due to a point mutation in the IKBKAP gene that results in decreased IKK complex-associated protein (IKAP) protein production.
Shiran Naftelberg, Gil Ast, Eran Perlson
doaj +1 more source
Metabolites, 2023 Central metabolism has a profound impact on the clinical phenotypes and penetrance of neurological diseases such as Alzheimer’s (AD) and Parkinson’s (PD) diseases, Amyotrophic Lateral Sclerosis (ALS) and Autism Spectrum Disorder (ASD). In contrast to the
Stephanann M. Costello +8 more
doaj +1 more source
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998 No ...
+7 more sources
Porque fazer modelos? Modelos matemáticos para ciclo de vigília/sono em humanos, fornecem novos insights na fisiopatologia da insônia família fatal (IFF) [PDF]
, 2013 FFI, a rare prion disease, constitutes by their wake and sleep abnormalities a unique pathophysiological model of disease. Recently, a neurobiological-mathematical model of the human sleep/ wake cycle (MMSWC) developed by Rempe, BestJ and Terman ...
Blanco, Susana Alicia Ana, Garay, Arturo
core +1 more source
Types of Pain in Multiple System Atrophy
Movement Disorders, EarlyView.Abstract Background Pain affects up to 87% of people with multiple system atrophy (MSA), but it remains unclear which types of pain contribute most to the overall burden. Objective To estimate the frequency of different types of pain in MSA individuals.
Nicole Campese +19 more
wiley +1 more source
Disease Models & Mechanisms, 2016 Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ...
Mylène Hervé, El Chérif Ibrahim
doaj +1 more source
Early Autonomic Burden in Prodromal Parkinson's Disease Predicts Cognitive Impairment
Movement Disorders, EarlyView.Abstract Background Autonomic dysfunction is a known contributor to cognitive impairment in Parkinson's disease (PD), but its impact during prodromal stage is unknown. Objective The aim was to determine whether early autonomic burden predicts incident cognitive impairment in prodromal PD.
A. Enrique Martinez‐Nunez +5 more
wiley +1 more source