Rosa Woldegebriel

Chchd10 or Chchd2 are not Required for Human Motor Neuron Differentiation In Vitro but Modify Synaptic Transcriptomes

T. Otonkoski, T. Taira, T. Rasila, 2019, bioRxiv.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2017, Brain : a journal of neurology.

MCM 3 AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2022 .

ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons

R. Torregrosa-Muñumer, T. Otonkoski, T. Taira, 2020, Neurobiology of Disease.

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

S. Kaakkola, Alexander Wolf, Sjoerd Wanrooij, 2017, Human molecular genetics.

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Matthew A. White, C. Bönnemann, R. Maroofian, 2020, Human molecular genetics.

Peripheral neuropathy linked mRNA export factor GANP reshapes gene regulation in human motor neurons

Matthew A. White, Andrew R. Bassett, S. Herukka, 2021, bioRxiv.

Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.

H. Tyynismaa, E. Ylikallio, Rosa Woldegebriel, 2018, Brain : a journal of neurology.