Analysis of COQ2 gene in multiple system atrophy

SHC2 gene copy number in multiple system atrophy (MSA)

(2013) Marcus C. Ferguson et al.   CLINICAL AUTONOMIC RESEARCH

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

(2013) H. J. McCarthy et al.   Clinical Journal of the American Society of Nephrology

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)

(2013) Emmanuel Scalais et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

(2013) Darrell L. Dinwiddie et al.   GENOMICS

Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

(2013) Nuria Buján et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A novel mutation in COQ2 leading to fatal infantile multisystem disease

(2013) Bernadette S. Jakobs et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Pfam: the protein families database

(2013) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy

(2011) C. Vilarino-Guell et al.   NEUROLOGY

Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy

(2011) Hidenao Sasaki et al.   Molecular Brain

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

(2010) Luis C. López et al.   PLoS One

SNCAvariants are associated with increased risk for multiple system atrophy

(2009) Sonja W. Scholz et al.   ANNALS OF NEUROLOGY

DOG 1.0: illustrator of protein domain structures

(2009) Jian Ren et al.   CELL RESEARCH

Multiple system atrophy: an update

(2009) Nadia Stefanova et al.   LANCET NEUROLOGY

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Second consensus statement on the diagnosis of multiple system atrophy

(2008) S. Gilman et al.   NEUROLOGY