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Neuropediatrics|August 1, 1987
A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathyR Herva, L von Wendt, G von Wendt, et al.
Human Genetics|November 1, 1991
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla diseaseJ Schleutker, L Haataja, M Renlund, et al.
Prenatal Diagnosis|October 1, 1981
Glial and neuronal cells in amniotic fluid of anencephalic pregnanciesH von Koskull, I Virtanen, V P Lehto, et al.
Neurology|July 13, 2000
Central and peripheral nervous system dysfunction in the clinical variation of Salla diseaseT Varho, S Jääskeläinen, U Tolonen, et al.
FEBS Letters|July 28, 1997
Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseasesA Majander, T Lamminen, V Juvonen, et al.
The Journal of Clinical Investigation|February 1, 1986
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblastsM Renlund, P T Kovanen, K O Raivio, et al.
Neurology|August 3, 1999
Founder mutations and the high prevalence of myotonia congenita in northern FinlandH Papponen, T Toppinen, P Baumann, et al.
Brain & Development|January 1, 1989
Muscle-eye-brain disease (MEB)P Santavuori, H Somer, K Sainio, et al.
Genomics|May 20, 1995
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15J Schleutker, A P Laine, L Haataja, et al.
Patient Education and Counseling|November 14, 1997
Acceptance of genetic testing in a general population: age, education and gender differencesA R Aro, A Hakonen, M Hietala, et al.
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