Alfried Kohlsch�tter

Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

Mireille Coss�e, Alexandra D�rr, Mich�le Schmitt et al. · Annals of Neurology · 1999 · 382 citations

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria

Alfried Kohlsch�tter, A. W. Behbehani, U. Langenbeck et al. · European Journal of Pediatrics · 1982 · 61 citations

Neurodegenerative Diseases, Corticobasal Degeneration, Degenerative Disease +6

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

Joachim Kappler, P. Leinekugel, Ernst Conzelmann et al. · Human Genetics · 1991 · 55 citations

Genetics, Genotype-phenotype Relationship, Biochemistry +1

Infantile cardiomyopathy and neuromyopathy with ?-galactosidase deficiency

Alfried Kohlsch�tter, K Sieg, F. J. Schulte et al. · European Journal of Pediatrics · 1982 · 27 citations

Cardiomyopathy, Pediatrics, Infantile Cardiomyopathy +4

CNS dysplasia in dysencephalia splanchnocystica (Gruber's syndrome)

A. Hori, H. Orthner, Alfried Kohlsch�tter et al. · Acta Neuropathologica · 1980 · 23 citations

Down Syndrome, Developmental Anomaly, Neurological Disorder +7