DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, +16

The American Journal of Human Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisGenetic DisorderNatural SciencesGenetics +6

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Oleg V. Evgrafov, Irina Mersiyanova, Joy Irobi, +21

Nature Genetics

Neurodegenerative DiseasesNeurological DisorderMedicinePathologyDegenerative Disease +5

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

Constantin d’Ydewalle, Jyothsna Krishnan, Driss M Chiheb, +7

Nature Medicine

Signal TransductionHdac6 InhibitorsSignaling PathwayCell RegulationMolecular Regulation +9

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Joy Irobi, Katrien Van Impe, Pavel Seeman, +20

Nature Genetics

Peripheral NervesProtein FoldingMedicineExperimental NeuropathologyHot-spot Residue +4

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi, +17

Nature Genetics

Rare DiseasesMendelian DisorderGenetic DisorderMedicineGenetics +6

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Albena Jordanova, Joy Irobi, Florian P. Thomas, +21

Nature Genetics

Molecular NeuroscienceBiochemistryNeuroanatomyMutant Tyrosyl-trna SynthetaseMedicine +11

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Gregor Kuhlenbäumer, Mark Hannibal, Eva Nelis, +24

Nature Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisMolecular NeuroscienceGenetic DisorderGenetics +6

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida‐Souza, +11

The American Journal of Human Genetics

KinesiologyMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +3

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

Ines Dierick, Jonathan Baets, Joy Irobi, +20

Brain

Increased Monomerization of Mutant HSPB1 Leads to Protein Hyperactivity in Charcot-Marie-Tooth Neuropathy

Leonardo Almeida‐Souza, Sofie Goethals, Vicky De Winter, +9

Journal of Biological Chemistry