-
1
-
-
0023917534
-
Neuronal ceroid lipofuscinoses in childhood
-
Santavuori P. Neuronal ceroid lipofuscinoses in childhood. Brain Dev 1988;10:80-83
-
(1988)
Brain Dev
, vol.10
, pp. 80-83
-
-
Santavuori, P.1
-
2
-
-
0025077094
-
Batten disease (Spielmeyer-Vogt; juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16
-
Gardiner RM, Sandford A, Deadman M, et al. Batten disease (Spielmeyer-Vogt; juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16. Genomics 1990;8:387-390
-
(1990)
Genomics
, vol.8
, pp. 387-390
-
-
Gardiner, R.M.1
Sandford, A.2
Deadman, M.3
-
3
-
-
0004458748
-
Isolation of a novel gene underlying Batten disease, CLN3
-
The International Batten Disease Consortium
-
The International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995;82: 938-945
-
(1995)
Cell
, vol.82
, pp. 938-945
-
-
-
4
-
-
0030454016
-
Rapid diagnostic test for the major mutation underlying Batten disease
-
Järvelä I, Mitchison HM, Munroe PB, et al. Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet 1996;33:1041-1042
-
(1996)
J Med Genet
, vol.33
, pp. 1041-1042
-
-
Järvelä, I.1
Mitchison, H.M.2
Munroe, P.B.3
-
5
-
-
0021741191
-
Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses
-
Rapola J, Santavuori P, Savilahti E. Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses. Hum Pathol 1984;15:352-360
-
(1984)
Hum Pathol
, vol.15
, pp. 352-360
-
-
Rapola, J.1
Santavuori, P.2
Savilahti, E.3
-
6
-
-
0024257141
-
Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease
-
Santavuori P, Heiskala H, Westermarck T, et al. Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease. Am J Med Genet 1988;5:265-274
-
(1988)
Am J Med Genet
, vol.5
, pp. 265-274
-
-
Santavuori, P.1
Heiskala, H.2
Westermarck, T.3
-
8
-
-
0027985401
-
MRI of the normal brain from early childhood to middle age. I. Appearances on T2- and proton density-weighted images and occurrence of incidental high signal foci
-
Autti T, Raininko R, Vanhanen S-L, et al. MRI of the normal brain from early childhood to middle age. I. Appearances on T2- and proton density-weighted images and occurrence of incidental high signal foci. Neuroradiology 1994;36:644-648
-
(1994)
Neuroradiology
, vol.36
, pp. 644-648
-
-
Autti, T.1
Raininko, R.2
Vanhanen, S.-L.3
-
9
-
-
0027939157
-
MRI of the normal brain from early childhood to middle age. II. Age dependence of signal intensity changes on T2-weighted images
-
Autti T, Raininko R, Vanhanen S-L, et al. MRI of the normal brain from early childhood to middle age. II. Age dependence of signal intensity changes on T2-weighted images. Neuroradiology 1994;36:649-651
-
(1994)
Neuroradiology
, vol.36
, pp. 649-651
-
-
Autti, T.1
Raininko, R.2
Vanhanen, S.-L.3
-
10
-
-
0029947923
-
MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis
-
Autti T, Raininko R, Vanhanen S-L, Santavuori P. MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis. Neuroradiology 1996;38:476-482
-
(1996)
Neuroradiology
, vol.38
, pp. 476-482
-
-
Autti, T.1
Raininko, R.2
Vanhanen, S.-L.3
Santavuori, P.4
-
11
-
-
84982342873
-
Die juvenile amaurotische Idiotie. Klinische und erblichkeitsmedizinische Untersuchungen
-
Lund
-
Sjögren T. Die juvenile amaurotische Idiotie. Klinische und erblichkeitsmedizinische Untersuchungen. Hereditas (Lund) 1931; 14:197-426
-
(1931)
Hereditas
, vol.14
, pp. 197-426
-
-
Sjögren, T.1
-
12
-
-
0000827239
-
The neuronal ceroid lipofuscinoses (Batten-Vogt syndrome)
-
Vinken PJ, Bruyn GW, eds. Amsterdam: North Holland Publishing
-
Zeman W, Donohue S, Dyken P, Green J. The neuronal ceroid lipofuscinoses (Batten-Vogt syndrome). In: Vinken PJ, Bruyn GW, eds. Clinical handbook of neurology, vol 10 (leucodystrophies and poliodystrophies). Amsterdam: North Holland Publishing, 1970:588-679
-
(1970)
Clinical Handbook of Neurology, Vol 10 (Leucodystrophies and Poliodystrophies)
, vol.10
, pp. 588-679
-
-
Zeman, W.1
Donohue, S.2
Dyken, P.3
Green, J.4
-
14
-
-
0017200656
-
The protracted form of juvenile neuronal ceroid-lipofuscinosis
-
Berl
-
Goebel HH, Pilz H, Gullotta F. The protracted form of juvenile neuronal ceroid-lipofuscinosis. Acta Neuropathol (Berl) 1976;36:393-396
-
(1976)
Acta Neuropathol
, vol.36
, pp. 393-396
-
-
Goebel, H.H.1
Pilz, H.2
Gullotta, F.3
-
15
-
-
0029937671
-
Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases
-
Review
-
Summers KM, Relationship between genotype and phenotype in monogenic diseases: relevance to polygenic diseases. Hum Mutat 1996;7:283-293 (Review)
-
(1996)
Hum Mutat
, vol.7
, pp. 283-293
-
-
Summers, K.M.1
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