Müller, Juliane S.

Top Publications

Top Publications Authored or Co-Authored by "Müller, Juliane S."

• Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal γ subunit

  American Journal of Human Genetics, Volume 79, No. 2, Year 2006, Citations 149
• Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

  Brain, Volume 131, No. 3, Year 2008, Citations 133
• Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

  Brain, Volume 136, No. 3, Year 2013, Citations 114
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes

  Neurology, Volume 73, No. 22, Year 2009, Citations 60