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G. Pfeffer

Observed name: G Pfeffer
OpenAlex ID: A5157900787
Exome sequencing in undiagnosed inherited and sporadic ataxias
2015 · Angela Pyle, T Smertenko, et al. · Newcastle University ePrints (Newcastle Univesity)
Proteomic analysis in 72 myofibrillar myopathy (MFM) patients identifies new disease-relevant proteins accumulating in aggregates and reveals subtype-specific proteomic profiles
2014 · A. Maerkens, M. Olive, et al. · RWTH Publications (RWTH Aachen)
Proteomic profile of cytoplasmic bodies (CB) compared to non-CB aggretates in HMERF associated with mutations in A-band titin
2014 · A. Maerkens, G. Tasca, et al. · Newcastle University ePrints (Newcastle Univesity)
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
2014 · G Pfeffer, GS Gorman, et al. · Newcastle University ePrints (Newcastle Univesity)
Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies
2013 · A. Maerkens, G. Pfeffer, et al. · Newcastle University ePrints (Newcastle Univesity)
A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure
2013 · G. Pfeffer, R. Barresi, et al. · Newcastle University ePrints (Newcastle Univesity)
Anti-retroviral exposure and somatic mitochondrial DNA mutations
2012 · B. A. I. Payne, G. Pfeffer, et al. · Newcastle University ePrints (Newcastle Univesity)
Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure
2012 · G. Pfeffer, Helen Griffin, et al. · Newcastle University ePrints (Newcastle Univesity)
Works count: 8
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