Jörg Klepper

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 406 citations · Full text

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

Glen Seidner, Marcela Garcia Alvarez, Jih‐I Yeh et al. · Nature Genetics · 1998 · 374 citations

Clinical Disorders, Heme Homeostasis, Inherited Metabolic Disease +9

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Annika Keller, Ana Westenberger, María Jesús Sobrido et al. · Nature Genetics · 2013 · 324 citations · Full text

Molecular Neuroscience, Neurology, Neuroscience +7

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek, Carsten Bergmann, Claudia Stendel et al. · The American Journal of Human Genetics · 2003 · 210 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +9

Seizure Control and Acceptance of the Ketogenic Diet in GLUT1 Deficiency Syndrome: A 2- to 5-Year Follow-Up of 15 Children Enrolled Prospectively

Jörg Klepper, Hans Scheffer, B. Leiendecker et al. · Neuropediatrics · 2005 · 140 citations