Results 41 to 50 of about 187,598 (208)

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent [PDF]

Journal of Clinical and Diagnostic Research, 2017
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties.
Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro   +4 more
doaj   +1 more source

Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway

Biology Open, 2021
Elongator dysfunction is increasingly recognized as a contributor to multiple neurodevelopmental and neurodegenerative disorders including familial dysautonomia, intellectual disability, amyotrophic lateral sclerosis, and autism spectrum disorder ...
BreAnna Cameron, Elin Lehrmann, Tien Chih, Joseph Walters, Richard Buksch, Sara Snyder, Joy Goffena, Frances Lefcort, Kevin G. Becker, Lynn George   +9 more
doaj   +1 more source

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

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

Arthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo, Ashish P. Balar, Aidan K. Strother, Subhash Kulkarni, Michael Hughes, Brian Skaug, Maureen D. Mayes, Shervin Assassi, Ali Y. Ayla, Zsuzsanna H. McMahan   +9 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

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

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

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

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