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Publications by Jan Senderek

Mutations in the RNA Exosome Component Gene EXOSC3 Cause Pontocerebellar Hypoplasia and Spinal Motor Neuron Degeneration

Nature Genetics

English

Transient, Recurrent, White Matter Lesions in X-Linked Charcot-Marie-Tooth Disease With Novel Connexin 32 Mutation

Archives of Neurology

English

Related publications

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

American Journal of Human Genetics

English

Mutations of EXOSC3/Rrp40p Associated With Neurological Diseases Impact Ribosomal RNA Processing Functions of the Exosome inS. Cerevisiae

Molecular Biology

English

Pontocerebellar Hypoplasia Type 4

English

Non-Syndromic Pontocerebellar Hypoplasia

English

Pontocerebellar Hypoplasia Type 5

English

Pontocerebellar Hypoplasia Type 8

English

Pontocerebellar Hypoplasia Type 2

English

Pontocerebellar Hypoplasia Type 6

English

Unstable Mutants in the Peripheral Endosomal Membrane Component ALS2 Cause Early-Onset Motor Neuron Disease

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English