Brown–Vialetto–Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease
- 30 September 2005
- journal article
- case report
- Published by Elsevier BV in Brain & Development
- Vol. 27 (6), 443-446
- https://doi.org/10.1016/j.braindev.2004.10.003
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenitaAnnals of Neurology, 2003
- The first nonsense mutation in alsin results in a homogeneous phenotype of infantile‐onset ascending spastic paralysis with bulbar involvement in two siblingsClinical Genetics, 2003
- Infantile ascending hereditary spastic paralysis (IAHSP)Neurology, 2003
- Infantile progressive bulbar palsy with deafnessBrain & Development, 2002
- Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?American Journal of Medical Genetics, 2000
- Brown-Vialetto-Van Laere SyndromeNeuropathology and Applied Neurobiology, 1993
- PROGRESSIVE BULBAR PARALYSIS OF CHILDHOODBrain, 1992
- Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance.Journal of Medical Genetics, 1990
- Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome)Journal of the Neurological Sciences, 1981
- Progressive Bulbar Paralysis Associated With Neural DeafnessArchives of Neurology, 1980