Published in Neurology on June 12, 2001
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A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. Ann Neurol (1999) 0.79
Atypical phenotype in a female with a large Xp deletion. Am J Med Genet (2001) 0.79
Focal amyotrophy in neurofibromatosis 2. J Neurol Neurosurg Psychiatry (2000) 0.78
Pigmentary anomalies in ataxia--telangiectasia: a clue to diagnosis and an example of twin spotting. Br J Dermatol (2001) 0.78
Vitamin D status and muscle function in children with neurofibromatosis type 1 (NF1). J Musculoskelet Neuronal Interact (2013) 0.77
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