D. Turnbull

Mitochondrial complex I subunit deficiency promotes pancreatic α-cell proliferation

Laura C. Greaves, R. Berlinguer-Palmini, M. Walker, 2022, Molecular metabolism.

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

F. Muntoni, B. Andresen, S. Rahman, 2003, Journal of Inherited Metabolic Disease.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease.

M. Nesbit, C. Moore, K. Blighe, 2020, Molecular therapy : the journal of the American Society of Gene Therapy.

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

K. Bushby, F. Muntoni, A. Schapira, 2013, Human mutation.

Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder

J. Bourke, G. Gorman, S. Mohiddin, 2022, Open Heart.

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

F. Muntoni, B. Andresen, J. Bonham, 2005, Journal of Inherited Metabolic Disease.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.