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Neurology

Volumn 68, Issue 13, 2007, Pages 975-976

  Percy, Alan K ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATIN B; CYSTEINE PROTEINASE; METHYL CPG BINDING PROTEIN 2;

DISEASE ASSOCIATION; EDITORIAL; FLUORESCENCE IN SITU HYBRIDIZATION; GAUCHER DISEASE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; LABORATORY DIAGNOSIS; METHODOLOGY; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; NERVE CELL DIFFERENTIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; STANDARDIZATION;

CHROMOSOME MAPPING; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; LAFORA DISEASE; MOLECULAR BIOLOGY; MUTATION; PREDICTIVE VALUE OF TESTS;

EID: 34147148139     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000260457.42141.30     Document Type: Editorial

References (7)

1. Percy AK, Lane JB. Rett syndrome: model of neurodevelopmental disorders. J Child Neurol 2005;20:718-721.
2. Schollen E, Smeets E, Deflem E, et al. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Hum Mutat 2003;22:116-120.
3. Laccone F, Junemann I, Whatley S, et al. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat 2004;23:234-244.
4. Lohi H, Turnbull J, Zhao XC, et al. Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls. Neurology 2007;68:996-1001.
5. Chan EM, Andrade DM, Franceschetti S, Minassian B. Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B. Adv Neurol 2005;95:47-57.
6. Erikson A. Gaucher disease - Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand Suppl 1986;326:1-42.
7. Moser HW, Smith KD, Watkins PA, et al. X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001:3257-3301.