Results 51 to 60 of about 493 (92)

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 more
europepmc   +1 more source

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

Adult polyglucosan body disease associated with an extrapyramidal syndrome. [PDF]

J Neurol Neurosurg Psychiatry, 1998
Robertson NP, Wharton S, Anderson J, Scolding NJ.   +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

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

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

<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