Muscle-eye-brain disease (MEB)

Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations —

Yukio Fukuyama, Makiko Ōsawa, Haruko Suzuki · Brain and Development · 1981 · 471 citations

Medicine, Genetics, Neurology +13

A Variant of Jansky-Bielschowsky Disease

P. Santavuori, Juhani Rapola, Kimmo Sainio et al. · Neuropediatrics · 1982 · 120 citations

Medicine, Neurology, Ophthalmology +6

Congenital Muscular Dystrophy as a Disease of the Central Nervous System

Shigehiko Kamoshita, Y. Konishi, Masaya Segawa et al. · Archives of Neurology · 1976 · 114 citations

Medicine, Neurology, Pathology +17

So-called neuronal ceroid lipofuscinosis: Neurophysiological studies in 60 children

G. Pampiglione, A. Harden · Journal of Neurology Neurosurgery & Psychiatry · 1977 · 109 citations · Full text

Medicine, Neurology, Neuroscience +10

Congenital Muscular Dystrophy: A Clinico-Pathological and Follow-Up Study of 15 Patients

M. Donner, Juhani Rapola, Hannu Somer · Neuropediatrics · 1975 · 74 citations

Medicine, Pathology, Pediatrics +17