Results 121 to 130 of about 99,722 (241)

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails. [PDF]

Ital J Pediatr
Gragnaniello V, Puma A, Gueraldi D, D'Errico I, Cazzorla C, Loro C, Porcù E, Salviati L, Burlina AB.   +8 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Imaging-based machine learning to evaluate the severity of ischemic stroke in the middle cerebral artery territory. [PDF]

BMC Med Imaging
Xie G, Gao J, Liu J, Zhou X, Zhao Z, Tang W, Zhang Y, Zhang L, Li K.   +8 more
europepmc   +1 more source

Phenotype and surgical management of drug‐resistant epilepsy in patients with COL4A1 and COL4A2 variants

Epilepsia Open, EarlyView.
Abstract Objective To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2‐related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery. Methods We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4
Jie Shi, Jiuluan Lin, Jianjun Bai, Haixiang Wang, Bingqing Zhang, Qian Feng, Zhaohui Sun, Yiou Liu, Jing He, Xiancheng Song, Siyu Wang, Xiaoyan Liu, Wenjing Zhou   +12 more
wiley   +1 more source

Grey-to-white matter ratio on computed tomography for predicting neurological outcome in patients with heat stroke: a retrospective cohort study. [PDF]

Front Neurol
Wei H, Zhu H, Liu M, Zhu X, Yu A, Luo C, Zeng Q, Zhou F, Duan H.   +8 more
europepmc   +1 more source

Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism

Epilepsia Open, EarlyView.
Abstract Dravet syndrome (DS) is an early onset, developmental, and epileptic encephalopathy characterized by drug‐resistant seizures and multiple comorbidities. It has been reported that in adulthood, it may be accompanied by parkinsonism, but the pathogenesis of this condition remains unclear.
Ryo Sugiyama, Takashi Saito, Atsuko Katsumoto, Shota Yoneno, Tomoyuki Akiyama, Hirofumi Komaki   +5 more
wiley   +1 more source

Choroid plexus enlargement contributes to motor severity via regional glymphatic dysfunction in Parkinson's disease. [PDF]

NPJ Parkinsons Dis
Liu L, Weng Q, Cai Q, Yu X, Huang W, Xie S, Shi Y, Li H, Zhang Y, Hu J, Li M, Chen G, Wang N, Lin X, Fu Y, Lin Y.   +15 more
europepmc   +1 more source

Oligodendrogenesis in Evolution, Development and Adulthood

Glia, EarlyView.
Oligodendrocytes and myelin took shape in jawed vertebrates. During development, OPCs are originated from NSCs and then undergo differentiation into mature oligodendrocytes that supply myelin. OPCs persist in the adult CNS and continue to produce oligodendrocytes and myelin. Adaptive myelination, which fine‐tunes neural circuits in response to neuronal
Hao Hu, Tianhao Gao, Jingwei Zhao, Huiliang Li   +3 more
wiley   +1 more source

Evaluation of Compliance With International Guidelines During the Follow-Up of Hypoparathyroidism. [PDF]

Int J Endocrinol
Turan Erdogan B, Polat SB, Keskin C, Nasiroglu İmga N, Ozdemir D, Topaloglu O, Ersoy R, Cakir B.   +7 more
europepmc   +1 more source

Phenotyping dividing cells in mouse models of neurodegenerative basal ganglia diseases. [PDF]

BMC Neurosci, 2013
Smardencas A, Rizkalla K, Kim HA, Massalas J, O'Leary C, Ehrlich ME, Schütz G, Lawrence AJ, Drago J.   +8 more
europepmc   +1 more source