Results 141 to 150 of about 600,045 (285)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. [PDF]

Int J Mol Sci, 2023
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C.   +14 more
europepmc   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Dysembryoplastic neuroepithelial tumour and cerebellar atrophy: case report

, 2001
Dysembryoplastic neuroepithelial tumours (DNET) are mainly benign cortical lesions. DNET in the caudate nucleus, thalamus, hypothalamus, pons and cerebellar hemispheres has also been reported.
Fanis, S. L., Papadopoulou, Z. L., Argyropoulou, M. I., Tzoufi, M., Efremidis, S. C., Arvanitis, D. L.   +5 more
core  

Stress responsive miR-23a attenuates skeletal muscle atrophy by targeting MAFbx /atrogin-1 [PDF]

, 2008
Muscle atrophy occurs in many pathological states and results primarily from accelerated protein degradation by the ubiquitin-proteasome pathway. We used dexamethasone to induce muscle wasting and investigated the role of a microRNA (miRNA) in the ...
Shigeru Miyaki, Yoshio Kato, Shogo Wada, Zhen Yan, Katsuhiko Suzuki, Takashi Ushida, Takayuki Akimoto, Mitsuharu Okutsu, Hiroshi Asahara   +8 more
core  

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 more
wiley   +1 more source

Disrupted Brain Structure and Function in Alzheimer's Disease Patients With Behavioral and Psychological Symptoms

iNew Medicine, EarlyView.
ABSTRACT Objective Behavioral and psychological symptoms of dementia (BPSD) are highly prevalent in Alzheimer’s disease (AD), but the underlying mechanisms are unclear. This study aims to elucidate the neuropathological mechanisms underlying BPSD by investigating gray matter volume (GMV) and brain connectivity in AD patients with and without BPSD ...
Xuerui Pang, Linbo Xie, Mengdan Chen, Yi Ji, Yibing Yan, Shanshan Zhou, Panpan Hu, Xingqi Wu, Kai Wang   +8 more
wiley   +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

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

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Journal of Medical Genetics, 2018
Yeshaya Langer, A. Aran, S. Gulsuner, B. Abu-Libdeh, P. Renbaum, D. Brunetti, P. Teixeira, T. Walsh, S. Zeligson, R. Ruotolo, R. Beeri, Imad Dweikat, M. Shahrour, A. Weinberg-Shukron, F. Zahdeh, E. Baruffini, E. Glaser, M. King, E. Levy-Lahad, M. Zeviani, R. Segel   +20 more
semanticscholar   +1 more source