Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome

por Braathen, Geir J, Sand, Jette C, Russell, Michael B
Publicado 2010

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

por Braathen, Geir J, Sand, Jette C, Bukholm, Geir, Russell, Michael B
Publicado 2007

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families

por Braathen, Geir J, Sand, Jette C, Lobato, Ana, Høyer, Helle, Russell, Michael B
Publicado 2010

Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease

por Høyer, Helle, Braathen, Geir J., Eek, Anette K., Nordang, Gry B. N., Skjelbred, Camilla F., Russell, Michael B.
Publicado 2015

HINT1 neuropathy in Norway: clinical, genetic and functional profiling

por Amor-Barris, Silvia, Høyer, Helle, Brauteset, Lin V., De Vriendt, Els, Strand, Linda, Jordanova, Albena, Braathen, Geir J., Peeters, Kristien
Publicado 2021

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

por Høyer, Helle, Braathen, Geir J., Busk, Øyvind L., Holla, Øystein L., Svendsen, Marit, Hilmarsen, Hilde T., Strand, Linda, Skjelbred, Camilla F., Russell, Michael B.
Publicado 2014

Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”

por Høyer, Helle, Braathen, Geir J., Busk, Øyvind L., Holla, Øystein L., Svendsen, Marit, Hilmarsen, Hilde T., Strand, Linda, Skjelbred, Camilla F., Russell, Michael B.
Publicado 2015

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation

por Høyer, Helle, Busk, Øyvind L., Esbensen, Q. Ying., Røsby, Oddveig, Hilmarsen, Hilde T., Russell, Michael B., Nyman, Tuula A., Braathen, Geir J., Nilsen, Hilde L.
Publicado 2022

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

por Høyer, Helle, Hilmarsen, Hilde T, Sunder-Plassmann, Raute, Braathen, Geir J, Andersen, Peter M, Beetz, Christian, Hacker, Sandra, Holla, Øystein L, Kurth, Ingo, Löscher, Wolfgang N, Reiter, Simone B C F, Rudnik-Schöneborn, Sabine, Strand, Linda, Windhager, Reinhard, Witsch-Baumgartner, Martina, Senderek, Jan, Auer-Grumbach, Michaela
Publicado 2022