Results 171 to 180 of about 238,953 (314)

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

A case of metformin-associated encephalopathy in a patient undergoing maintenance hemodialysis. [PDF]

CEN Case Rep
Fukata F, Iwami S, Yasuda K, Masunaga M, Yasukawa M.   +4 more
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Basal ganglia

, 1997
Basal ganglia. Anterior commissure, fornix, nucleus accumbens, caudate. Coronal plane.

core  

Basal ganglia cryptococcomas presenting as parkinsonism in an immunocompetent patient. [PDF]

IDCases
Ruiz LLP, Arévalo-Carvajal PF, Agudelo LG, Mariño DA.   +3 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification. [PDF]

Front Genet
Liang F, Ban R, Li J, Li J, Li S, Chen J, Wang D, Liu Y, Luo Z, Li J, Wang L.   +10 more
europepmc   +1 more source

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

Isolated Upper-Extremity Monoparesis From Basal Ganglia Infarction in a Child With Congenital Internal Carotid and Anterior Cerebral Artery Agenesis: A Case Report. [PDF]

Cureus
Habte YM, Habte MM, Habte BM, Jima SG, Abdu EM.   +4 more
europepmc   +1 more source

A Case of Physiologic Enhancement of Scarpa's Ganglia Mimicking Bilateral Vestibular Schwannomas in a Patient With Atypical Meningioma With NF2 Mutation. [PDF]

Case Rep Radiol
Paradise EA, Schmidgall JA, Dubey P, Baskin DS, Teh BS, Tremont-Lukats IW, Fung SH.   +6 more
europepmc   +1 more source