Results 41 to 50 of about 187,613 (226)

Disautonomia familiar: relato de caso. [PDF]

, 2001
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Usuy Junior, Eduardo Nobuyuki
core  

α-Catulin maps to the familial dysautonomia region on 9q31

, 2001
Familial dysautonomia is a severe autosomal-recessive neurodegenerative disease that primarily affects the Ashkenazi Jewish population. We present the mapping of α-catulin and show that it maps precisely to the familial dysautonomia candidate region on ...
Paula C Demacio, Peter N Ray
core   +1 more source

A Closer Look at Familial Dysautonomia from a Social Communication Perspective: A Case Report and Review of Literature

, 2022
Familial dysautonomia (Riley Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-kappa-B kinase complex-associated protein gene.
Ibrahim Selcuk Esin, Bahadir Turan, ESİN, İbrahim Selçuk, Dursun, Onur Burak, Gulsum Yitik Tonkaz, Onur Burak Dursun, Turan, Bahadir, Tonkaz, Gulsum Yitik   +7 more
core   +1 more source

Reframing the Gut–Brain Axis: The Gut Wall as a Neural Immune Interface in Multiple Sclerosis and Autoimmune Neurological Diseases

Annals of Neurology, EarlyView.
Gut wall physiology in multiple sclerosis (MS) and autoimmune neurologic diseases remains underexplored but may span gut barrier dysfunction, enteric glial targeting, mucosal immune dysregulation, and autoimmune targets within the enteric nervous system (ENS).
Federico Montini, Sean J. Pittock, Laura Cacciaguerra, Howard L. Weiner, Luke A. Schwerdtfeger   +4 more
wiley   +1 more source

Clinical Model‐Informed Precision Dosing Consult Service for Accelerating Personalized Medication in Pediatric Patients

Clinical Pharmacology &Therapeutics, EarlyView.
Traditional dosing strategies often rely on a “one‐size‐fits‐all” paradigm, assuming an “average” patient with typical demographic and pharmacological characteristics. In reality, this often overlooks existing between‐patient variability and can lead to suboptimal drug exposure or toxicity. This issue is especially pronounced in pediatric patients, who
Zachary L. Taylor, Takanobu Nadai, Kei Irie, Wen Rui Tan, Sanjana Parikh, Anhar Hosawi, Matthijs W. van Hoogdalem, Ronaldo Morales Junior, Sonya Tang Girdwood, Abbie D. Leino, Kana Mizuno, Alexander A. Vinks, Tomoyuki Mizuno   +12 more
wiley   +1 more source

The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system

Disease Models & Mechanisms, 2017
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction.
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A. Michael Babcock, George A. Carlson, Frances Lefcort   +15 more
doaj   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Phosphatidylserine improves axonal transport by inhibition of HDAC and has potential in treatment of neurodegenerative diseases

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

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

NMDAR‐antibody encephalitis: Seizure semiology and EEG findings

Epileptic Disorders, EarlyView.
Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus, Bernard Liem, Sidra Aurangzeb, Mkael Symmonds, Adam E. Handel, Sarosh R. Irani, Arjune Sen   +6 more
wiley   +1 more source