The syndrome of deafness-dystonia: Clinical and genetic heterogeneity

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

(2012) Ainhi D. Ha et al.   MOVEMENT DISORDERS

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients

(2010) AM Alazami et al.   CLINICAL GENETICS

OUTCOME AFTER CHILDHOOD ENCEPHALITIS

(2010) H. Rantala et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Magnetic resonance imaging, risk factors and co-morbidities in children with cerebral palsy

(2010) Rajniti Prasad et al.   JOURNAL OF NEUROLOGY

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

(2010) H. Houlden et al.   NEUROLOGY

Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNALys associated with dystonia and stroke-like episodes

(2009) A. Gal et al.   ACTA NEUROLOGICA SCANDINAVICA

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

(2009) Eva Morava et al.   MITOCHONDRION

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

(2008) Anas M. Alazami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene

(2008) C. Bonnet et al.   JOURNAL OF HUMAN GENETICS

Causes of and diagnostic approach to methylmalonic acidurias

(2008) B. Fowler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

(2008) Susanne A. Schneider et al.   MOVEMENT DISORDERS