Results 61 to 70 of about 253,124 (183)

Involvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons. [PDF]

PLoS ONE, 2014
A splicing mutation in the ikbkap gene causes Familial Dysautonomia (FD), affecting the IKAP protein expression levels and proper development and function of the peripheral nervous system (PNS).
Anastasia Abashidze, Veronica Gold, Yaron Anavi, Hayit Greenspan, Miguel Weil   +4 more
doaj   +1 more source

Cardiovascular morbidity following epilepsy: A nationwide retrospective cohort study in South Korea

Epilepsia Open, EarlyView.
Abstract Objective This study evaluated the long‐term risk of major cardiovascular diseases (CVDs) in patients with epilepsy using a nationwide cohort, aiming to address critical gaps in population‐based evidence on brain–heart interactions. Methods Data from the Korean National Health Insurance Service (2002–2013) were analyzed.
Youngoh Bae, Chaeyoon Kang, Yejin Lee, Haerim Cho, Hohyun Jung, Seung Won Lee   +5 more
wiley   +1 more source

Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia. [PDF]

PLoS ONE, 2010
BACKGROUND: Familial dysautonomia (FD) is a hereditary neuropathy caused by mutations in the IKBKAP gene, the most common of which results in variable tissue-specific mRNA splicing with skipping of exon 20.
Nathalie Boone, Béatrice Loriod, Aurélie Bergon, Oualid Sbai, Christine Formisano-Tréziny, Jean Gabert, Michel Khrestchatisky, Catherine Nguyen, François Féron, Felicia B Axelrod, El Chérif Ibrahim   +10 more
doaj   +1 more source

Prodromal Lewy Body Symptoms and α‐Synuclein Seeding in Idiopathic Olfactory Dysfunction

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Early identification of pathological α‐synuclein deposition (αSynD) may improve understanding of Lewy body disorder (LBD) progression and enable timely disease‐modifying treatments. Objectives We investigated αSynD using a seed amplification assay and assessed prodromal LBD symptoms in individuals with idiopathic olfactory ...
Oskar Hoffmann McWilliam, Remarh Bsoul, Gunhild Waldemar, Steen Gregers Hasselbalch, Anja Hvid Simonsen, Marie Bruun, Laura Storm Næsborg Andersen, Christian von Buchwald, Kasper Aanæs, Christian K. Pedersen, Ida S.B. Andersen, Magne Bech, Clara Hageman Pinborg, Aušrinė Areškevičiūtė, Eva Løbner Lund, Kristian Steen Frederiksen   +15 more
wiley   +1 more source

Sympathetic Shift and Insular Alteration: Unravelling the Link Between Anxiety and Heart Rate Variability in Parkinson's Disease

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, Alessandra Fanciulli, Francescopaolo P. Cucinotta, Bryony Ishihara, Ioana Cociasu, Fahd Baig, Michael Hart, Erlick Pereira, Francesca Morgante, Elena Makovac   +9 more
wiley   +1 more source

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, Ziv Abramovitch, Shani Gluska, Sivan Yannai, Yuvraj Joshi, Maya Donyo, Keren Ben-Yaakov, Tal Gradus, Jonathan Zonszain, Chen Farhy, Ruth Ashery-Padan, Eran Perlson, Gil Ast   +12 more
doaj   +1 more source

Familial dysautonomia.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998
No ...
  +7 more sources

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, Mubasher A. Qamar, Maria Alexandra Chiriac, Georg Göbel, Julia Wanschitz, Andreas Schlager, Bianca Caliò, Fabian Leys, Pam Bower, Laura Zamarian, Anette Schrag, Roy Freeman, Horacio Kaufmann, Roberta Granata, Stefan Kiechl, Werner Poewe, Klaus Seppi, Gregor Wenning, K. Ray Chaudhuri, Alessandra Fanciulli   +19 more
wiley   +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, Kelly A. Mills, Joseph Seemiller, Christopher B. Morrow, Gregory M. Pontone, Abhimanyu Mahajan   +5 more
wiley   +1 more source

Altered Pain Perception in a Young Adult with Childhood Trauma and Suspected Riley-Day Syndrome: A Case Report

Reports
Background and Clinical Significance: Altered pain perception is a diagnostic challenge for patients with a history of trauma and substance use. Familial dysautonomia (Riley-Day syndrome) may further complicate the sensory profiles. Case Presentation: We
Pedro Martínez-Lozano, Maurcio Sousa-Pitti, Natalia Toro-Pérez, Juan Nicolás Cuenca-Zaldívar, Rosana Cid-Verdejo, Oliver Martínez-Pozas, Laura Jiménez-Ortega, Eleuterio A. Sánchez-Romero   +7 more
doaj   +1 more source