Results 311 to 320 of about 461,280 (380)

Developmental transformations of Purkinje cells tracked by DNA electrokinetic mobility. [PDF]

Cell Rep Methods
Brandenburg C, Crutcher GW, Romanowski AJ, Donofrio SG, Duraine LR, Owusu-Mensah RNA, Cooper BH, Sugihara I, Blatt GJ, Sillitoe RV, Poulopoulos A.   +10 more
europepmc   +1 more source

Medulloblastoma of cerebellum with multiple cerebral metastases [PDF]

, 1960
Oswaldo Ricciardi Cruz, Mário Rubens Montenegro   +1 more
openalex  

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, EarlyView.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability. [PDF]

Int J Mol Sci
Deleanu R.
europepmc   +1 more source

TUBA1A‐related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures

Epileptic Disorders, EarlyView.
Abstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Andy Cheuk‐Him Ng, Morris H. Scantlebury   +1 more
wiley   +1 more source

Altered right inferior frontal gyrus-based functional connectivity associated with inhibition through swimming exercise in children with attention deficit hyperactivity disorder. [PDF]

BMC Pediatr
Ding L, Zhong W, Chen L, Shen H, Chen L, Jiang K.   +5 more
europepmc   +1 more source

Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1

Epileptic Disorders, EarlyView.
Abstract Objective Progressive myoclonic epilepsy type 1 (EPM1) is a neurodegenerative disease caused by biallelic variants in the cystatin B (CSTB) gene. Despite a progressive course, phenotype severity varies among patients, even within families. We studied the potential role of APOE ε4 in modifying phenotypic diversity in EPM1, given its established
Janina Gunnar, Yawu Liu, Henri Eronen, Tarja Joensuu, Marja Äikiä, Jelena Hyppönen, Katri Silvennoinen, Esa Mervaala, Juhana Hakumäki, Anna‐Elina Lehesjoki, Reetta Kälviäinen   +10 more
wiley   +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

Voxel-wise analysis of brain metastasis predilection sites in breast cancer by clinical features. [PDF]

Discov Oncol
Wang H, Chen H, Xie H, Duan H, Lin L, Chen J, Jiang D, Mou Y, Chen Z, Yang Q, Yao M, Guo C.   +11 more
europepmc   +1 more source