Related references
Note: Only part of the references are listed.CLP1 links tRNA metabolism to progressive motor-neuron loss
Toshikatsu Hanada et al.
NATURE (2013)
Making sense of genetic heterogeneity Emergence of pathways in developmental brain disorders
Alex R. Paciorkowski et al.
NEUROLOGY (2013)
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
Sabine Rudnik-Schoeneborn et al.
NEUROLOGY (2013)
Exome and Whole-Genome Sequencing as Clinical Tests: A Transformative Practice in Molecular Diagnostics
Yongguo Yu et al.
CLINICAL CHEMISTRY (2012)
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Josef Finsterer et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2012)
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Jijun Wan et al.
NATURE GENETICS (2012)
Clinical features of SCA36 A novel spinocerebellar ataxia with motor neuron involvement (Asidan)
Yoshio Ikeda et al.
NEUROLOGY (2012)
The C-terminal Region of the Exosome-associated Protein Rrp47 Is Specifically Required for Box C/D Small Nucleolar RNA 3′-Maturation
Joe L. Costello et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
Yasmin Namavar et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
The role of the S1 domain in exoribonucleolytic activity: Substrate specificity and multimerization
Monica Amblar et al.
RNA (2007)
Reconstitution, activities, and structure of the eukaryotic RNA exosome
Quansheng Liu et al.
CELL (2006)
A protein interaction framework for human mRNA degradation
B Lehner et al.
GENOME RESEARCH (2004)
Share Paper
