Related references
Note: Only part of the references are listed.Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
Immacolata Andolfo et al.
BLOOD (2013)
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
Emmanuel Scalais et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
Darrell L. Dinwiddie et al.
GENOMICS (2013)
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
Denise Cassandrini et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
Leonardo Salviati et al.
JOURNAL OF MEDICAL GENETICS (2012)
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells
Marco Spinazzi et al.
NATURE PROTOCOLS (2012)
Renal involvement in mitochondrial cytopathies
Francesco Emma et al.
PEDIATRIC NEPHROLOGY (2012)
Coenzyme Q deficiency in muscle
Eva Trevisson et al.
CURRENT OPINION IN NEUROLOGY (2011)
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations
Eva Trevisson et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes
Raquel Montero et al.
CLINICAL BIOCHEMISTRY (2008)
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency
Giovanni Montini et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
COQ2 nephropathy:: A newly described inherited mitochondriopathy with primary renal involvement
Francesca Diomedi-Camassei et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis
Jose M. Lopez-Martin et al.
HUMAN MOLECULAR GENETICS (2007)
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
Julie Mollet et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
C Quinzii et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
L Salviati et al.
NEUROLOGY (2005)
Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ
M Forsgren et al.
BIOCHEMICAL JOURNAL (2004)