L Cavalier
Karolinska University Hospital(SE)
Publications by Year
Research Areas
Tuberculosis Research and Epidemiology, Genetic Neurodegenerative Diseases, Skin and Cellular Biology Research, Hereditary Neurological Disorders, Diagnosis and treatment of tuberculosis
Most-Cited Works
- → The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy(2000)412 cited
- → Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families(1998)308 cited
- → Clinical Nosologic and Genetic Aspects of Joubert and Related Syndromes(1999)102 cited
- → Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia(1998)57 cited
- → Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1(1997)53 cited
- [The varied etiologies of childhood-onset dystonia].(2002)
- → Giant axonal neuropathy locus refinement to a < 590 kb critical interval(2000)22 cited
- [Friedreich's ataxia and hereditary vitamin E deficiency. Case study].(1998)
- → Influence of Cytogenetics on the Outcome of Patients With High‐Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide(2025)2 cited
- Cartographie du gene de la neuropathie a axones geants et du syndrome de joubert et etude de la correlation genotype - phenotype de l'ataxie par deficit hereditaire isole en vitamine e(1999)