Latest papers

A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

The natural history of epistaxis in patients with hereditary hemorrhagic telangiectasia in the Norwegian population: a cross-sectional study.

Dopamine-related genes and spontaneous smoking cessation in ever-heavy smokers.

Definition and natural history of Lennox-Gastaut syndrome.

Pediatric and adult sonic hedgehog medulloblastomas are clinically and molecularly distinct.

VPS35 mutations in Parkinson disease.

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

Spasmodic dysphonia: onset, course, socioemotional effects, and treatment response.

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation.

Diagnosis, classification, and treatment of diabetes

Latin America: native populations affected by early onset periodontal disease.

Prevalence and risk factors for early presentation of asthma among preschool children in Taiwan.

Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64

An amygdala structural abnormality common to two subtypes of conduct disorder: a neurodevelopmental conundrum.

Clinical features and course of pemphigus in Thai patients.

Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder.