• A Clinicopathologic Study of Movement Disorders in Frontotemporal Lobar Degeneration
• A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient
• An update on the biology and management of dyskeratosis congenita and related telomere biology disorders
• Bilateral Exudative Retinopathy in a Child with Revesz Syndrome, a Severe Variant of Dyskeratosis Congenita
• CNS manifestations in patients with telomere biology disorders
• Dyskeratosis Congenita and Related Telomere Biology Disorders
• Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders
• Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study
• Globular glial tauopathy type II
• Living-Donor Lung Transplantation for Dyskeratosis Congenita
• Novel mutation of the TINF2 gene resulting in severe phenotypic Revesz syndrome
• Novel ocular findings and progressive intracranial calcification in a case of Revesz syndrome
• Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials
• Q351R <em>MAPT</em> mutation is associated with a mixed 3R/4R tauopathy and a slowly progressive cognitive, behavioural and parkinsonian syndrome
• Revesz syndrome revisited
• Revesz syndrome with bilateral retinal detachments successfully treated by pars plana vitrectomy
• Surgical solution of selective epitympanic dysventilation syndrome
• The biology and management of dyskeratosis congenita and related disorders of telomeres
• The Masquerading Retinopathy of Revesz Syndrome
• Third window syndrome – classification, diagnosis, therapy
• Treatment of telomeropathies
• Unrelated allogeneic hematopoietic stem cell transplantation in a patient with Revesz syndrome, a severe variant of dyskeratosis congenita