Results 81 to 90 of about 8,964,539 (118)

Colocalization and functional analyses identify <i>GBE1</i> as a gene linking muscle strength and cardiometabolic fitness. [PDF]

Am J Physiol Endocrinol Metab
Schnurr TM, Johnson ML, Jin C, Sørensen KV, Kim L, Jahng JW, Ramste A, Bielczyk-Maczynska E, Gloudemans MJ, Saliba-Gustafsson P, Vinton E, Jurney PL, Carcamo-Orive I, Ashley EA, Hansen T, Knowles JW, Palmisano BT.   +16 more
europepmc   +1 more source

Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy. [PDF]

Mol Genet Metab
Blake JM, Miller AD, Marr JL, Ekenstedt KJ.   +3 more
europepmc   +1 more source

A 61-Year-Old Man With Weakness and Gait Dysfunction. [PDF]

JAMA Neurol
Jones FJS, Edmundson C, Orthmann-Murphy J.   +2 more
europepmc   +1 more source

Genetic diagnosis of Jordanian patients with glycogen storage diseases. [PDF]

Orphanet J Rare Dis
Shboul M, El-Khateeb M, Fathallah R.
europepmc   +1 more source

The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness. [PDF]

Epilepsy Behav
Williams MI, Donohue KJ, Sanz P, Messahel S, Serratosa JM, Duran J, Michelucci R, Muccioli L, Delgado-Escueta A, Nguyen VV, Minassian BA, Gentry MS.   +11 more
europepmc   +1 more source

Perisynaptic Astrocytic Processes as Communication Hubs and Early Sites of Dysfunction. [PDF]

Neuroscientist
Puletti F, Tugulu I, Hong S.
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

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