Results 171 to 180 of about 157,060 (309)

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Motor cortex directly excites the substantia nigra pars reticulata, the basal ganglia output nucleus. [PDF]

Nat Commun
Thompson WS, Wekwejt P, Grillner S, Silberberg G.   +3 more
europepmc   +1 more source

A left basal ganglia lesion in a 57-year-old patient. [PDF]

Brain Pathol
Atiya S, Sonani A, Eickoff J, Vizcaino MA.   +3 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Basal Ganglia Intraparenchymal Cyst Revealed by a Movement Disorder. [PDF]

Cureus
Benyarou K, El Hasnaoui S, Yousfi S, Mebrouk Y.   +3 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Horizontally tiled network of cortico-basal ganglia-like modules performs reinforcement learning. [PDF]

Sci Rep
Hirokane K, Takehara R, Kita T, Onoi S, Matsushita S, Kitsukawa T.   +5 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Introduction to Basal Ganglia X - Proceedings of the 10th Triennial Meeting of the International Basal Ganglia Society

Frontiers in Systems Neuroscience, 2012
James M Tepper
doaj   +1 more source

Spatial propagation of movement-related basal ganglia activity predicts parkinsonian motor state. [PDF]

Brain
Averna A, Sousa M, Bernasconi E, Moraud EM, Pollo C, Krack P, Bergman H, Duchet B, Tinkhauser G.   +8 more
europepmc   +1 more source