Results 121 to 130 of about 187,598 (208)

ELP1’s Role in Cerebellar Development: Implications for Familial Dysautonomia and SHH-Medulloblastoma

The cerebellum plays a pivotal role in the coordination of motor movement, behavior, and language. Abnormalities in cerebellar development can have two opposing, catastrophic effects.
Arnskötter, Carl Frederik
core   +1 more source

Cold face test demonstrates parasympathetic cardiac dysfunction in familial dysautonomia

, 1999
In familial dysautonomia (FD), i.e., Riley-Day syndrome, parasympathetic dysfunction has not been sufficiently evaluated. The cold face test is a noninvasive method of activating trigeminal brain stem cardiovagal and sympathetic pathways and can be ...
M. J. Hilz, P. Sauer, W. Singer, B. Stemper, U. Haertl, F. B. Axelrod   +5 more
core   +1 more source

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia. [PDF]

Am J Hum Genet, 2023
Morini E, Chekuri A, Logan EM, Bolduc JM, Kirchner EG, Salani M, Krauson AJ, Narasimhan J, Gabbeta V, Grover S, Dakka A, Mollin A, Jung SP, Zhao X, Zhang N, Zhang S, Arnold M, Woll MG, Naryshkin NA, Weetall M, Slaugenhaupt SA.   +20 more
europepmc   +1 more source

Advanced electrocardiographic predictors of mortality in familial dysautonomia

, 2008
Objective: To identify electrocardiographic predictors of mortality in patients with familial dysautonomia (FD). Methods: Ten-minute resting high-fidelity 12-lead electrocardiograms (ECGs) were obtained from 14 FD patients and 14 age/gender-matched ...
A.H. Feiveson, S. Buechner, E.C. Greco, Axelrod, F. B., H. Marthol, Greco, Edward Carl, Buechner, S., V. Starc, DePalma, J. L., Tutaj, M., T.T. Schlegel, J.L. DePalma, Schlegel, T. T., I. Solaimanzadeh, F.B. Axelrod, M.J. Hilz, M. Tutaj, Feiveson, A. H., Starc, V., Solaimanzadeh, I., Marthol, H., Hilz, M. J.   +21 more
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Cardiac dysautonomia in depression – heart rate variability biofeedback as a potential add-on therapy

, 2019
Alexandra Pinter,1,2 Szabolcs Szatmari Jr,1,3–4 Tamas Horvath,5 Ana Isabel Penzlin,6 Kristian Barlinn,7 Martin Siepmann,8 Timo Siepmann1,71Division of Health Care Sciences, Dresden International University, Dresden, Germany; 2Department of Family ...
Szatmari S Jr, Siepmann T, Barlinn K, Penzlin AI, Pinter A, Siepmann M, Horvath T   +6 more
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Familial dysautonomia [PDF]

Nature, 1976
Felicia Axelrod, Thomas W. Mittag, J. P. Green   +2 more
openaire   +1 more source

Longitudinal changes in the macula and optic nerve in familial dysautonomia. [PDF]

J Neurol, 2021
Kfir J, Wu M, Liu M, Raju L, Schuman JS, Ishikawa H, Vanegas IM, Mendoza-Santiesteban CE, Palma JA, Norcliffe-Kaufmann L, Morgenstein B, Kaufmann H, Wollstein G.   +12 more
europepmc   +1 more source

Jaw-in-a-Riley-Day: Mandibular Free Flap Reconstruction With Virtual Surgical Planning in a Patient With Familial Dysautonomia. [PDF]

Cureus, 2022
Itamura K, Kupferman S, Lee J, Mallen-St Clair J.   +3 more
europepmc   +1 more source

Dysautonomia after severe traumatic brain injury. [PDF]

, 2010
BACKGROUND: Dysautonomia after traumatic brain injury (TBI) is characterized by episodes of increased heart rate, respiratory rate, temperature, blood pressure, muscle tone, decorticate or decerebrate posturing, and profuse sweating. This study addresses
Hendricks, H.T., Vos, P.E., Heeren, J.H.M.   +2 more
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Avortement : Une situation aggravée. Entretien avec le Planning familial

, 1982
Planning familial, Bataille Claire. Avortement : Une situation aggravée. Entretien avec le Planning familial. In: Cahiers du féminisme, n°20, 1982. Dossier Asie (Chine, Japon) (juillet - août 1982) pp.
Planning familial, Bataille, Claire
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