An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1mutation

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

(2011) Lenka Nosková et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Involvement of the mitochondrial compartment in human NCL fibroblasts

(2011) Francesco Pezzini et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells

(2011) Yi Cao et al.   PLoS One

Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

(2010) C.-W. Liou et al.   JOURNAL OF MEDICAL GENETICS

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

(2010) Bruce H. Cohen et al.   METHODS

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

(2010) W. Xin et al.   NEUROLOGY

Bestrophins and retinopathies

(2010) Qinghuan Xiao et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Phenotypic Variations in 3 Children With POLG1 Mutations

(2009) Prinyarat Burusnukul et al.   JOURNAL OF CHILD NEUROLOGY

Neuronal ceroid lipofuscinoses

(2008) Anu Jalanko et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION

DNA deletions and clonal mutations drive premature aging in mitochondrial mutator mice

(2008) Marc Vermulst et al.   NATURE GENETICS