Results 111 to 120 of about 62,774 (200)

A Novel Radiographic and Genetic Variant of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Case Report. [PDF]

Neurohospitalist
Nichol AA, Ngo AB, Alharthi M, Hird K, Owen M, Raefsky S, Yang JH.   +6 more
europepmc   +1 more source

Diagnosing Alexander disease in adults. [PDF]

Pract Neurol
Lynch DS, Wade C, Carlson AK, Barkhof F, Yoshida T, Collins A, Edwards MR, Waldman AT.   +7 more
europepmc   +1 more source

<i>PRKAG2</i> Variant, Motor Neuron Disease, and Parkinsonism: Fortuitous Association or a Potentially Underestimated Pathophysiological Mechanism? [PDF]

Muscles
Orsini M, Pinto WBVR, Sgobbi P, Oliveira ASB.   +3 more
europepmc   +1 more source

Neurological glycogen storage diseases and emerging therapeutics. [PDF]

Neurotherapeutics
Colpaert M, Singh PK, Donohue KJ, Pires NT, Fuller DD, Corti M, Byrne BJ, Sun RC, Vander Kooi CW, Gentry MS.   +9 more
europepmc   +1 more source

Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1. [PDF]

Mol Genet Metab Rep
Pühringer M, Eisenkölbl A, Gröppel G.
europepmc   +1 more source

Empagliflozin Repurposing for Lafora Disease: A Pilot Clinical Trial and Preclinical Investigation of Novel Therapeutic Targets. [PDF]

Methods Protoc
d'Orsi G, Liantonio A, Imbrici P, Gambacorta N, Dinoi G, Altomare CD, DEFEAT-LD Study Group, Carella M.   +7 more
europepmc   +1 more source

Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Dermitzakis I, Gargani S, Manthou ME, Theotokis P.   +6 more
europepmc   +1 more source

Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV. [PDF]

Mol Genet Metab Rep
Naito C, Kosar K, Kishimoto E, Pena L, Huang Y, Hao K, Bernieh A, Kasten J, Villa C, Kishnani P, Deeksha B, Gu M, Asai A.   +12 more
europepmc   +1 more source

¹H and ³¹P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease. [PDF]

Brain Commun
Chan KL, Panatpur A, Messahel S, Dahshi H, Johnson T, Henning A, Ren J, Minassian BA.   +7 more
europepmc   +1 more source

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model. [PDF]

JCI Insight
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS.   +10 more
europepmc   +1 more source