Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

Brain and Development

Volumn 27, Issue 6, 2005, Pages 443-446

  Dipti, Subrahmanian ^a   Childs, Anne Marie ^a   Livingston, John H ^a   Aggarwal, A K ^b   Miller, Mike ^c   Williams, Chris ^a   Crow, Yanick J ^d  

^a LEEDS GENERAL INFIRMARY   (United Kingdom)

^b Meltham Road General Practice Surgery   (United Kingdom)

^c HUDDERSFIELD ROYAL INFIRMARY   (United Kingdom)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Brown Vialetto Van laere syndrome; Bulbar palsy; Deafness; Fazio Londe disease; Juvenile amyotrophic lateral sclerosis

Indexed keywords

ADOLESCENT; AGE DISTRIBUTION; AMYOTROPHIC LATERAL SCLEROSIS; ANTERIOR HORN CELL DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BROWN VIALLETO VAN LAERE SYNDROME; BULBAR PARALYSIS; CASE REPORT; CAUSE OF DEATH; CHILD; CLINICAL FEATURE; DISEASE COURSE; FAZIO LONDE DISEASE; FEMALE; HEARING LOSS; HUMAN; MALE; MOTOR NEURON DISEASE; MOTOR NEUROPATHY; ONSET AGE; PHENOTYPIC VARIATION; PROGRESSIVE BULBAR PALSY; PYRAMIDAL TRACT; RESPIRATORY FAILURE; SIBLING; STRIDOR;

ADOLESCENT; AGE OF ONSET; AMYOTROPHIC LATERAL SCLEROSIS; BULBAR PALSY, PROGRESSIVE; CHILD; DEAFNESS; DISEASE PROGRESSION; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MALE; PHENOTYPE;

EID: 23944509682     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2004.10.003     Document Type: Article

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