Results 91 to 100 of about 253,124 (183)

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

European Journal of Neurology, Volume 33, Issue 2, February 2026.
In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Victor Alm, Linda Säll, Kristin Samuelsson, Rayomand Press, Snjolaug Arnardottir, Anna Lindstrand, Valter Niemelä, Lilia Terinte, Frida Nordin, Per Svenningsson, Daniel Nilsson, Luca Verrecchia, Martin Paucar   +12 more
wiley   +1 more source

Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice

Nucleic Acids Research, 2018
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder caused by a point mutation in the IKBKAP gene that results in defective splicing of its pre-mRNA.
Rahul Sinha, Kim Yj, Kim Yj, T. Nomakuchi, T. Nomakuchi, K. Sahashi, K. Sahashi, Y. Hua, Y. Hua, F. Rigo, C. Bennett, A. Krainer   +11 more
semanticscholar   +1 more source

Clinical Validation of α‐Synuclein in Salivary Extracellular Vesicles as a Biomarker for Parkinson's Disease: A Longitudinal Study

European Journal of Neurology, Volume 33, Issue 2, February 2026.
Salivary Extracellular vesicles (SEVs) isolated from PD patients exhibit increased levels of both total (α‐SynTot) and oligomeric alpha‐synuclein (α‐SynOlig). In PD patients, SEVS‐α‐SynOlig levels correlate with cognitive decline (MMSE) and motor fluctuations (MDS‐UPDRS IV) and remain stable after 1 year follow‐up.
Antonia Gurgone, Vita Cardinale, Marta M. Tangari, Serena Budicin, Debora Comai, Claudia Ledda, Leonardo Lopiano, Giovanni Camussi, Maurizio Zibetti, Maurizio Giustetto   +9 more
wiley   +1 more source

Review of published research on primary dysautonomia of domestic animals

Veterinary Record, Volume 198, Issue 1, Page e30-e40, 3/10 January 2026.
Abstract An article published in 1992 by Marion M. Pollin and I.R. Griffiths reviewed the topic of primary dysautonomias of the autonomic nervous system of unidentified origin in multiple domestic species, specifically cats, dogs and horses. Thirty‐one years later, we appear no closer to identifying the causal agents of these strikingly similar ...
Tanith Harte, David Smith, Jo Moore, Beth Wells   +3 more
wiley   +1 more source

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

Human Molecular Genetics, 2018
Familial dysautonomia (FD) is a rare genetic disease with no treatment, caused by an intronic point mutation (c.2204+6T>C) that negatively affects the definition of exon 20 in the elongator complex protein 1 gene (ELP1 also known as IKBKAP).
Irving Donadon, M. Pinotti, K. Rajkowska, G. Pianigiani, Elena Barbon, E. Morini, H. Motaln, B. Rogelj, F. Mingozzi, S. Slaugenhaupt, F. Pagani   +10 more
semanticscholar   +1 more source

IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies

The Application of Clinical Genetics, 2017
Berish Y Rubin, Sylvia L Anderson Department of Biological Sciences, Fordham University, Bronx, NY, USA Abstract: The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders ...
Rubin BY, Anderson SL
doaj  

The Many Faces of Elongator in Neurodevelopment and Disease

Frontiers in Molecular Neuroscience, 2016
Development of the nervous system requires a variety of cellular activities, such as proliferation, migration, axonal outgrowth and guidance and synapse formation during the differentiation of neural precursors into mature neurons.
Marija Kojic, Brandon Wainwright
doaj   +1 more source

The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation.

PLoS Genetics, 2010
Although acetylated alpha-tubulin is known to be a marker of stable microtubules in neurons, precise factors that regulate alpha-tubulin acetylation are, to date, largely unknown.
Jachen A Solinger, Roberta Paolinelli, Holger Klöss, Francesco Berlanda Scorza, Stefano Marchesi, Ursula Sauder, Dai Mitsushima, Fabrizio Capuani, Stephen R Stürzenbaum, Giuseppe Cassata   +9 more
doaj   +1 more source

Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study

Journal of Pediatric Gastroenterology and Nutrition - JPGN, 2019
Objectives: Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy characterized by chronic lung disease and cyclic vomiting due to hyper-adrenergic crises.
Bat el Bar Aluma, L. Norcliffe-Kaufmann, I. Sarouk, A. Dagan, M. Ashkenazi, Y. Bezalel, D. Vilozni, A. Lahad, O. Efrati   +8 more
semanticscholar   +1 more source

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

Nucleic Acids Research, 2018
Familial dysautonomia (FD) is a severe genetic disorder causing sensory and autonomic dysfunction. It is predominantly caused by a c.2204+6T>C mutation in the IKBKAP gene.
G. H. Bruun, J. M. V. Bang, L. Christensen, Sabrina Brøner, Ulrika S. S. Petersen, B. Guerra, Alexander G. B. Grønning, T. K. Doktor, B. Andresen   +8 more
semanticscholar   +1 more source