Results 161 to 170 of about 40,385 (227)

Unifying biology of neurodegeneration in lysosomal storage diseases. [PDF]

J Inherit Metab Dis
Ludlaim AM, Waddington SN, McKay TR.
europepmc   +1 more source

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases. [PDF]

Biomedicines, 2022
La Cognata V, Cavallaro S.
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

Neurological manifestations of lysosomal storage diseases. [PDF]

Ann Med Surg (Lond)
Elendu C, Babawale EA, Babarinde FO, Babatunde OD, Chukwu C, Chiegboka SF, Shode OP, Ngozi-Ibeh JK, Njoku A, Ikokwu MN, Kaka GU, Hassan JI, Fatungase OO, Osifodunrin T, Udoeze CA, Ikeji VI.   +15 more
europepmc   +1 more source

Advancing the Research and Development of Enzyme Replacement Therapies for Lysosomal Storage Diseases. [PDF]

GEN Biotechnol, 2022
Puhl AC, Ekins S.
europepmc   +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

Feasibility and efficacy of the forced oscillation technique in patients with lysosomal storage diseases. [PDF]

Sci Rep
Alblooshi A, Zaabi NA, Albadi G, Al-Jasmi FA.   +3 more
europepmc   +1 more source

Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies. [PDF]

Int J Mol Sci, 2022
Stepien KM, Cufflin N, Donald A, Jones S, Church H, Hargreaves IP.   +5 more
europepmc   +1 more source

Lysosomal Storage Diseases—Regulating Neurodegeneration

Journal of Experimental Neuroscience, 2016
Rob U. Onyenwoke, Jay E. Brenman
doaj  

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