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A. Pittmann
A. Pittmann
Genetics
Biology
Ribosomal RNA
Mitochondrial encephalomyopathy
Ribosomal protein
4
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Mitochondrial ribosomal protein S25 (MRPS25) mutations impair ribosomal assembly and cause mitochondrial encephalomyopathy with partial agenesis of the corpus callosum
2018
Neuromuscular Disorders
Enrico Bugiardini
Alice Mitchell
I. Dalla Rosa
M. Menunni
A. Pittmann
O.V. Poole
Janice L. Holton
R. Quinlivan
Ian J. Holt
H. Houlden
Michael G. Hanna
Antonella Spinazzola
R.D.S. Pitceathly
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Hereditory Sensory Neuropathy Type 1 ( SPTLC1 ): phenotypic variation in patients with the English founder mutation
2017
Neuromuscular Disorders
U Kugathasan
M Laura
Pedro J. Tomaselli
M.R.B. Evans
A. Pittmann
C. J. D. Sinclair
Thorsten Hornemann
Saranya Suriyanarayanan
R. Phadke
Giuseppe Lauria
Raffaella Lombardi
James M. Polke
David L.H. Bennett
H. Houlden
Julian Blake
Mary M. Reilly
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DIAGNOSTIC YIELD OF A 6000 DISEASE-ASSOCIATED GENE FOCUSED EXOME IN CMT AND COMPLEX NEUROPATHY CASES: AN EXPLORATORY STUDY
2017
Andrea Cortese
Enrico Bugiardini
Derralyn Hughes
A. Pittmann
M Laura
Am Rossor
H. Houlden
Mary M. Reilly
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Tau gene polymorphism influences risk of sporadic tauopathy by allele-specific changes in transcription and alternative splicing
2010
Kay
Jana Vandrovcova
A. Pittmann
Aj Lees
R de Silva
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