Results 91 to 100 of about 187,613 (226)

Clinical Neuro-ophthalmic Findings in Familial Dysautonomia

, 2012
To define the clinical neuro-ophthalmic abnormalities of patients with familial dysautonomia (FD). Sixteen patients (32 eyes) with the clinical and molecular diagnoses of FD underwent thorough neuro-ophthalmic clinical evaluation.
Felicia B. Axelrod, Floyd Warren, Hedges, 3rd, Thomas R, Mendoza-Santiesteban, Carlos E, Thomas R. Hedges, Lucy Norcliffe-Kaufmann, Warren, Floyd, Shantan Reddy, Horacio Kaufmann, Axelrod, Felicia B, Reddy, Shantan, Carlos E. Mendoza-Santiesteban, Norcliffe-Kaufmann, Lucy, Kaufmann, Horacio   +13 more
core   +1 more source

Familial Dysautonomia [PDF]

BMJ, 1965
Y R, AHUJA, H, FUDENBERG
openaire   +2 more sources

Early‐Onset Wild‐Type Transthyretin Amyloidosis Polyneuropathy

Muscle &Nerve, EarlyView.
Chafic Karam, Kaylee Baker, Sami Khella, Brian Drachman, Pranav Chandrashekar, MacLean Nasrallah, Shunsuke Koga, Janice Pieretti   +7 more
wiley   +1 more source

Cardiovascular Autonomic Neuropathy in Charcot–Marie–Tooth Disease: A Genotype‐Stratified Study of PMP22 Duplication and GJB1 Mutation Carriers

Journal of the Peripheral Nervous System, Volume 31, Issue 4, December 2026.
ABSTRACT Background and Aims Data on cardiovascular autonomic neuropathy (CAN) are sparse in Charcot–Marie–Tooth disease. We aimed to determine the prevalence of CAN in CMT1A and CMTX1 and its associations with neuropathy severity and heart rate variability (HRV), compared with age‐ and sex‐matched controls. Methods Thirty‐six CMT1A, 24 CMTX1 patients,
Kryštof Prášil, Veronika Potočková, Tomáš Nedělka, Alžběta Prášilová, Radim Mazanec   +4 more
wiley   +1 more source

Cross‐Sectional Associations Between Gut Microbiota and Neuroimaging Changes in Post‐COVID‐19 Condition

Comprehensive Physiology, Volume 16, Issue 5, October 2026.
In patients with post‐COVID‐19 condition, a significant shift in gut microbiota composition can be observed, marked by a decrease in butyrate‐producing taxa. Relevant taxa correlate with clinical symptoms, structural and functional brain changes, which suggests potential therapeutic targets and highlight the need for further investigation in their ...
Sophie Wetz, Ravi Dadsena, Nicole Treichel, Ana S. Costa, Anna Hofmann, Sandro Romanzetti, Thomas Clavel, Kathrin Reetz, Julia Walders   +8 more
wiley   +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

A new model of care for familial hypercholesterolaemia: What is the role of cardiology?

, 2012
Familial hypercholesterolaemia (FH) is a co-dominantly inherited disorder that causes marked elevation in plasma cholesterol and premature coronary heart disease.
Clifton, P., Watts, G., van Bockxmeer, Frank M, Clifton, Peter M., Sullivan, David R, George, Peter M, Australasia Network Consensus Group (Aust, Familial Hypercholesterolaemia, Poplawski, N., Bishop, W., Semsarian, Christopher, Tonkin, Andrew, Semsarian, C., O'Brien, Richard C, O'Brien, R., Hamilton-Craig, I., Sullivan, D., van Bockxmeer, F., van Bockxmeer, Frank M., Tonkin, A., Hamilton-Craig, Ian, Clifton, Peter M, Watts, Gerald F, O'Brien, Richard C., Bishop, Warrick, Poplawski, Nicola, George, Peter M., George, P., Watts, Gerald F., Sullivan, David R.   +28 more
core   +1 more source

Familial Dysautonomia [PDF]

Archives of Disease in Childhood, 1958
openaire   +4 more sources

Cytokine‐Driven Hyperinflammation in Long COVID: Mechanisms, Biomarkers, Complement Dysregulation, and Emerging Immunotherapies—A Narrative Review

Health Science Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background and Aims Long COVID, also known as post‐acute sequelae of SARS‐CoV‐2 infection (PASC), is a multisystem condition characterized by persistent symptoms that continue beyond the acute phase of infection. Growing evidence indicates that sustained immune dysregulation involving cytokine‐mediated inflammation, complement activation ...
Emmanuel Ifeanyi Obeagu
wiley   +1 more source

Walsh & Hoyt: Familial Dysautonomia

, 2005
Riley-Day syndrome, also called familial dysautonomia, is a rare disorder found almost exclusively in persons of Ashkenazi Jewish descent. The responsible gene maps to chromosome 9q3133 and is inherited in autosomal-recessive fashion.
Aki Kawasaki, MD, PhD
core