Results 101 to 110 of about 9,468,531 (154)

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

Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.

J Clin Endocrinol Metab
Visuttijai K, Hedberg-Oldfors C, Braun O, Englund E, Glamuzina E, Turner C, Vukusic K, Sandstedt J, Dellgren G, Karason K, Oldfors A.   +10 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

Ubiquitination of glycogen and metabolites in cells and tissues. [PDF]

Nature
Jochem M, Cobbold SA, Goodman CA, Kueng C, Cerra A, Fielden LF, Kim ML, Schenk P, Agarwal R, Wang XS, Scutts SR, Pandos M, Tang L, Hermanns T, Devine SM, Brzozowski M, Shibata Y, Geoghegan ND, McLean CA, Lechtenberg BC, Hofmann K, Gregorevic P, Komander D.   +22 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

Clinical Reasoning: A 63-Year-Old Female Patient Presenting With Orthostatic Hypotension and Ataxia. [PDF]

Neurology
Shen F, Graham EL, Opal P.
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

Surgical Treatment of Tethered Cord Syndrome by Release of Filum Terminalis: A Review. [PDF]

Children (Basel)
Lampros M, Giordano F, Zagorianakou P, Alexiou GA, Voulgaris S.   +4 more
europepmc   +1 more source