Results 151 to 160 of about 2,568 (202)

Allosteric Cholesterol Site in Glycine Receptors Characterized through Molecular Simulations. [PDF]

J Phys Chem B
Jalalypour F, Howard RJ, Lindahl E.
europepmc   +1 more source

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation. [PDF]

J Inherit Metab Dis
Mróz D, Jagłowska J, Wevers RA, Ziętkiewicz S.   +3 more
europepmc   +1 more source

Cell-free DNA integrity and complement C4d as novel liquid biopsy biomarkers for paraneoplastic and non-paraneoplastic autoimmune encephalitis. [PDF]

Front Immunol
Vakrakou AG, Brinia ME, Cheiraki A, Alexaki A, Papadopoulou A, Vatsellas G, Kokala Dimitropoulou V, Derventzi A, Constantinides VC, Stathopoulos P, Boufidou F, Stefanis L, Stadelmann C, Nessler S, Kapaki E, Kilidireas C.   +15 more
europepmc   +1 more source

Expanding the Understanding of Stiff-Person Syndrome: Insights from 17 Cases in India. [PDF]

Ann Indian Acad Neurol
Jain RS, Pemawat A, Sharma P, Nehra K.
europepmc   +1 more source

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An unusual case of hyperekplexia

European Journal of Paediatric Neurology, 2000
Hyperekplexia is a rare paroxysmal disorder characterized by exaggerated startle response, hypertonia during infancy and a transient increase in tone following startle attacks. We report an unusual case of hyperekplexia in a young man. In addition to common symptoms of the condition, we found generalized spasticity persisting beyond infancy, and facial
Heinz Jungbluth, Mark I Rees, A Y Manzur   +2 more
exaly   +4 more sources

Hereditary Hyperekplexia in Saudi Arabia

Pediatric Neurology, 2022
Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity.We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a ...
Heba Y El Khashab, Fowzan S Alkuraya, Mohammed Zain Seidahmed   +2 more
exaly   +3 more sources

Hyperekplexia and other startle syndromes

Journal of the Neurological Sciences, 2020
Abnormal startle syndromes are classified into hyperekplexia, stimulus-induced, and neuropsychiatric startle syndromes. Hyperekplexia is attributed to a genetic, idiopathic, or symptomatic cause. Hereditary hyperekplexia is a treatable neurogenetic disorder.
Arushi Gahlot Saini, Sanjay Pandey
exaly   +3 more sources

Saccadic eye movements in hyperekplexia

Movement Disorders, 1995
AbstractHyperekplexia is an autosomal dominant disorder characterized by excessive startle responses followed by a temporary generalized stiffness. The startle response is generated in the medial bulbopontine reticular formation in the lower brainstem.
E Bollen, J G van Dijk
exaly   +5 more sources

Hyperekplexia

Journal of Child Neurology, 2012
Hyperekplexia is a rare neurologic disorder, characterized by excessive startle response to unexpected stimuli. There are 3 cardinal features: generalized stiffness immediately after birth that normalizes during the first year of life; excessive startle reflex to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness ...
Keung Kit, Chan, Sharon Wan-Wah, Cherk, Hencher Han-Chih, Lee, Wing Tat, Poon, Albert Yan-Wo, Chan   +4 more
openaire   +3 more sources

Hyperekplexia in two siblings

The Indian Journal of Pediatrics, 2006
Hyperekplexia is a rare, hereditary, non-epileptic disorder characterized by an exaggerated startle reaction to unexpected auditory, somatosensory and visual stimuli. The authors describe a one-day-old term neonate, who presented with jitteriness and episodic tonic spasms, and his elder sister with hyperekplexia. Hyperekplexia though is a rare disorder
M L, Kulkarni, B, Kannan, Prakash, Mathadh   +2 more
openaire   +2 more sources