Julian Blake

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 368 citations

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

Sahar Al‐Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney et al. · Genomics · 2006 · 235 citations · Full text

Neurodegenerative Diseases, Degenerative Disease, Degenerative Pathology +7

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)

Henry Houlden, R. H. M. King, Julian Blake et al. · Brain · 2005 · 138 citations · Full text

Genetics, Pathology, Molecular Genetics +17

Genetic dysfunction of <i>MT-ATP6</i> causes axonal Charcot-Marie-Tooth disease

Robert D. S. Pitceathly, Sinéad M. Murphy, Ellen Cottenie et al. · Neurology · 2012 · 110 citations · Full text

Liver failure associated with mitochondrial DNA depletion

Andrew A. M. Morris, Jan‐Willem Taanman, Julian Blake et al. · Journal of Hepatology · 1998 · 101 citations

Dna Damage, Hepatology, Mitochondrial Function +7