Results 211 to 220 of about 37,969 (302)

Ten-year follow-up of suprascapular nerve decompression in a competitive volleyball player: a case report. [PDF]

J Surg Case Rep
Orie G, Lutnick E, Ablove RH, Rauh M.
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

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore)
Ji Z, Zheng H, Yang Y, Li D, Li Z, Guo X.   +5 more
europepmc   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Targeting the mutant androgen receptor with PROTACs in spinal and bulbar muscular atrophy. [PDF]

Neurotherapeutics
Lee C, Lim J.
europepmc   +1 more source

PROGRESSIVE MUSCULAR ATROPHY, ACUTE FORM [PDF]

The Journal of Nervous and Mental Disease, 1915
openaire   +1 more source

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

Matched-pair analysis of motor outcomes in adults with spinal muscular atrophy on nusinersen vs. risdiplam. [PDF]

J Neurol
Svenja N, Benjamin S, Jaqueline L, Melina S, Refik P, Linda-Isabell S, Markus L, Jelena S, Cornelius D, Michael F, Christoph K, Tim H.   +11 more
europepmc   +1 more source

[Progressive neural muscular atrophy].

Lijecnicki vjesnik, 1969
P, Dürrigl, Z, Domljan
openaire   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source