Results 101 to 110 of about 47,175 (263)

Reversing brain aging: Targeting energy metabolism in endogenous neural stem cells

Interdisciplinary Medicine, EarlyView.
Mechanism of endogenous neural stem cells (eNSCs) energy metabolism disorder leading to brain aging and targeted eNSCs intervention strategies (By biorender). The disorder of energy metabolism of eNSCs can lead to their resting and aging, and eventually lead to brain aging.
Chong Chen, Jiayi Wang, Jimin Yu, Yiran Zhou, Lihai Liu, Jing Liu, Liang Wang   +6 more
wiley   +1 more source

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants. [PDF]

Hum Genome Var, 2023
Taura Y, Tozawa T, Isoda K, Hirai S, Chiyonobu T, Yano N, Hayashi T, Yoshida T, Iehara T.   +8 more
europepmc   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

SCN2A- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report. [PDF]

Child Neurol Open, 2023
Murray M, Martindale JM, Otallah SI.
europepmc   +1 more source

Amyloid‐β–Related Cortical Susceptibility Alterations in Individuals Under Assessment for Alzheimer's Disease: A χ‐Separation Study

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Assessment of amyloid‐β (Aβ) burden and associated iron deposition and neurodegeneration is important for Alzheimer's disease (AD) management. Although quantitative susceptibility mapping (QSM) detects iron and myelin changes, conventional metrics suffer from signal cancelation between paramagnetic and diamagnetic components ...
Hiroyuki Tatekawa, Tatsushi Oura, Akitoshi Takeda, Ayako Omori, Natsuko Atsukawa, Shu Matsushita, Daisuke Horiuchi, Hirotaka Takita, Yasuhito Mitsuyama, Yoshihito Ban, Taro Shimono, Josef Pfeuffer, Daiju Ueda, Yoshiaki Itoh, Yukio Miki   +14 more
wiley   +1 more source

Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy: Clues to an Ultrarare ACO2-Related Neurometabolic Diagnosis. [PDF]

Neurology, 2023
Lail N, Pandey AK, Venkatesh S, Noland RD, Swanson G, Pain D, Branson HM, Suzuki CK, Yoon G.   +8 more
europepmc   +1 more source

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders. [PDF]

Int J Mol Sci, 2022
Romaniello R, Pasca L, Panzeri E, D'Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F.   +13 more
europepmc   +1 more source

Management of Absent Upper Esophageal Sphincter Opening After Neurological Injury

The Laryngoscope, EarlyView.
This study evaluated the effects of swallowing therapy and cricopharyngeus (CP) muscle surgery on upper esophageal sphincter (UES) opening, oral intake, and airway protection in patients with absent UES opening following neurological injury. CP‐targeted surgeries were associated with improved bolus passage and oral intake, but persistent aspiration ...
Radhika Rawat, Cyrus W. Abrahamson, Kelly Rogers, Jonelyn Langenstein, Jaymie Bromfield, Arjun Seth, James A. Burns, Andrew P. Stein   +7 more
wiley   +1 more source

The humanised CYP2C19 transgenic mouse exhibits cerebellar atrophy and movement impairment reminiscent of ataxia. [PDF]

Neuropathol Appl Neurobiol, 2023
Milosavljević F, Brusini I, Atanasov A, Manojlović M, Vučić M, Oreščanin-Dušić Z, Brkljačić J, Miljević Č, Nikolić-Kokić A, Blagojević D, Wang C, Damberg P, Pešić V, Tyndale RF, Ingelman-Sundberg M, Jukić MM.   +15 more
europepmc   +1 more source

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source