Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
NICOLE, Sophie, CHAOUCH, Amina, COX, Daniel, MÜLLER, Juliane S, EVANGELISTA, Teresinha, STALBERG, Erik, LOOS, Christine, BAROIS, Annie, BROCHIER, Guy, STERNBERG, Damien, FOURNIER, Emmanuel, HANTAÏ, Daniel, TORBERGSEN, Torberg, ABICHT, Angela, DUSL, Marina, LAVAL, Steven H, GRIFFIN, Helen, EYMARD, Bruno, LOCHMÜLLER, Hanns, BAUCHE, Stéphanie, DE BRUYCKERE, Elodie, FONTENILLE, Marie-Joséphine, HORN, Morten A, VAN GHELUE, Marijke, LØSETH, Sissel, ISSOP, Yasmin
Published in Brain (London, England : 1878) (01.09.2014)
Published in Brain (London, England : 1878) (01.09.2014)
Get full text
Journal Article
Age-dependent penetrance among females with X-linked adrenoleukodystrophy
Horn, Morten A, Retterstøl, Lars, Abdelnoor, Michael, Skjeldal, Ola H, Tallaksen, Chantal M E
Published in Brain (London, England : 1878) (01.02.2015)
Published in Brain (London, England : 1878) (01.02.2015)
Get full text
Journal Article
Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy
Horn, Morten A, Nilsen, Kristian B, Jørum, Ellen, Mellgren, Svein I, Tallaksen, Chantal M E
Published in Neurology (13.05.2014)
Published in Neurology (13.05.2014)
Get more information
Journal Article
Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease
Horn, Morten A., Erichsen, Martina M., Wolff, Anette S. B., Månsson, Jan-Eric, Husebye, Eystein S., Tallaksen, Chantal M. E., Skjeldal, Ola H.
Published in Clinical endocrinology (Oxford) (01.09.2013)
Published in Clinical endocrinology (Oxford) (01.09.2013)
Get full text
Journal Article
Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
Horn, Morten A., Mikaelsen, Karin B. M., Ferdinandusse, Sacha, Jørum, Ellen, Mellgren, Svein I., Retterstøl, Lars, Wanders, Ronald J. A., Tallaksen, Chantal M. E.
Published in Clinical case reports (01.02.2016)
Published in Clinical case reports (01.02.2016)
Get full text
Journal Article
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report
Horn, Morten A, Mikaelsen, Karin B M, Ferdinandusse, Sacha, Jørum, Ellen, Mellgren, Svein I, Retterstøl, Lars, Wanders, Ronald J A, Tallaksen, Chantal M E
Published in Clinical case reports (01.02.2016)
Published in Clinical case reports (01.02.2016)
Get full text
Report