Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

(2014) Hiroyuki Morino et al.   BMC Neurology

Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome

(2014) P S Bindu et al.   BRITISH JOURNAL OF RADIOLOGY

Alterations of oxidative phosphorylation complexes in astrocytomas

(2014) René Günther Feichtinger et al.   GLIA

Long Survival in Leigh Syndrome: New Cases and Review of Literature

(2014) Charlotte Thiels et al.   NEUROPEDIATRICS

A multicenter study on Leigh syndrome: disease course and predictors of survival

(2014) Kalliopi Sofou et al.   Orphanet Journal of Rare Diseases

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

(2014) Laura Melchionda et al.   Frontiers in Genetics

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

Diffusion Tensor Imaging in a Child with Hypertrophic Olivary Degeneration

(2013) Avner Meoded et al.   CEREBELLUM

Hypertrophic olivary degeneration with gadolinium enhancement after posterior fossa surgery in a child with medulloblastoma

(2013) Johannes Nowak et al.   CHILDS NERVOUS SYSTEM

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

(2013) Célia Nogueira et al.   NEUROGENETICS

Hypertrophic olivary degeneration in children: four new cases and a review of the literature with an emphasis on the MRI findings

(2012) S E Sanverdi et al.   BRITISH JOURNAL OF RADIOLOGY

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

(2012) Tomas Honzik et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations

(2012) K. J. Kinghorn et al.   JOURNAL OF NEUROLOGY

Cerebellar Ataxia in Patients With Mitochondrial DNA Disease

(2012) Nichola Zoe Lax et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

(2012) Kavi P. Patel et al.   MOLECULAR GENETICS AND METABOLISM

Red nucleus degeneration in hypertrophic olivary degeneration after pediatric posterior fossa tumor resection: use of susceptibility-weighted imaging (SWI)

(2012) Arastoo Vossough et al.   PEDIATRIC RADIOLOGY

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

(2011) Daniele Ghezzi et al.   NATURE GENETICS

MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome

(2008) Matthias Elstner et al.   MOLECULAR BIOTECHNOLOGY