AAAAAA
Results:
1-24
|
Results: 24
Authors:
Fahnehjelm, KT
Ygge, J
Engman, ML
Mosskin, M
Santavuori, P
Malm, G
Citation: Kt. Fahnehjelm et al., A child with Muscle-Eye-Brain disease - Ophthalmological and neurological characteristics, ACT OPHTH S, 79(1), 2001, pp. 72
Authors:
Lamminranta, S
Aberg, LE
Autti, T
Moren, R
Laine, T
Kaukoranta, J
Santavuori, P
Citation: S. Lamminranta et al., Neuropsychological test battery in the follow-up of patients with juvenileneuronal ceroid lipofuscinosis, J INTEL DIS, 45, 2001, pp. 8-17
Authors:
Kirveskari, E
Partinen, M
Santavuori, P
Citation: E. Kirveskari et al., Sleep and its disturbance in a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5), J CHILD NEU, 16(10), 2001, pp. 707-713
Authors:
Lonnqvist, T
Vanhanen, SL
Vettenranta, K
Autti, T
Rapola, J
Santavuori, P
Saarinen-Pihkala, UM
Citation: T. Lonnqvist et al., Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis, NEUROLOGY, 57(8), 2001, pp. 1411-1416
Authors:
Aberg, LE
Rinne, JO
Rajantie, I
Santavuori, P
Citation: Le. Aberg et al., A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis, NEUROLOGY, 56(9), 2001, pp. 1236-1239
Authors:
Cormand, B
Pihko, H
Bayes, M
Valanne, L
Santavuori, P
Talim, B
Gershoni-Baruch, R
Ahmad, A
van Bokhoven, H
Brunner, HG
Voit, T
Topaloglu, H
Dobyns, WB
Lehesjoki, AE
Citation: B. Cormand et al., Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease, NEUROLOGY, 56(8), 2001, pp. 1059-1069
Authors:
Santavuori, P
Lauronen, L
Kirveskari, E
Aberg, L
Sainio, K
Autti, T
Citation: P. Santavuori et al., Neuronal ceroid lipofuscinoses in childhood, NEUROL SCI, 21(3), 2000, pp. S35-S41
Authors:
Auranen, M
Rapola, J
Pihko, H
Haltia, M
Leivo, I
Soinila, S
Virtanen, I
Kalimo, H
Anderson, LVB
Santavuori, P
Somer, H
Citation: M. Auranen et al., Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease, NEUROMUSC D, 10(1), 2000, pp. 16-23
Authors:
Kirveskari, E
Partinen, M
Salmi, T
Sainio, K
Telakivi, T
Hamalainen, M
Larsen, A
Santavuori, P
Citation: E. Kirveskari et al., Sleep alterations in juvenile neuronal ceroid-lipofuscinosis, PED NEUROL, 22(5), 2000, pp. 347-354
Authors:
Holmberg, V
Lauronen, L
Autti, T
Santavuori, P
Savukoski, M
Uvebrant, F
Hofman, I
Peltonen, L
Jarvela, I
Citation: V. Holmberg et al., Phenotype-genotype correlation in eight patients with Finnish variant lateinfantile NCL (CLN5), NEUROLOGY, 55(4), 2000, pp. 579-581
Authors:
Riikonen, R
Vanhanen, SL
Tyynela, J
Santavuori, P
Turpeinen, U
Citation: R. Riikonen et al., CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis, NEUROLOGY, 54(9), 2000, pp. 1828-1832
Authors:
Aberg, L
Liewendahl, K
Nikkinen, P
Autti, T
Rinne, JO
Santavuori, P
Citation: L. Aberg et al., Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms, NEUROLOGY, 54(5), 2000, pp. 1069-1074
Authors:
Aberg, LE
Backman, M
Kirveskari, E
Santavuori, P
Citation: Le. Aberg et al., Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis, EPILEPSIA, 41(10), 2000, pp. 1296-1302
Authors:
van Diggelen, OP
Keulemans, JLM
Winchester, B
Hofman, IL
Vanhanen, SL
Santavuori, P
Voznyi, YV
Citation: Op. Van Diggelen et al., A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL, MOL GEN MET, 66(4), 1999, pp. 240-244
Authors:
Hatonen, T
Kirveskari, E
Heiskala, H
Sainio, K
Laakso, ML
Santavuori, P
Citation: T. Hatonen et al., Melatonin ineffective in neuronal ceroid lipofuscinosis patients with fragmented or normal motor activity rhythms recorded by wrist actigraphy, MOL GEN MET, 66(4), 1999, pp. 401-406
Authors:
Santavuori, P
Gottlob, I
Haltia, M
Rapola, J
Lake, BD
Tyynela, J
Peltonen, L
Citation: P. Santavuori et al., Infantile and other types of NCL with GROD, BIOM HLTH R, 33, 1999, pp. 16-36
Authors:
Hofman, I
Kohlschutter, A
Santavuori, P
Gottlob, I
Goebel, HH
Lake, BD
Schutgens, RBH
Greene, NDE
Leung, KY
Mitchison, HM
Munroe, PB
Taschner, PEM
Citation: I. Hofman et al., Juvenile NCL, BIOM HLTH R, 33, 1999, pp. 55-76
Authors:
Santavuori, P
Rapola, J
Haltia, M
Tyynela, J
Peltonen, L
Mole, SE
Citation: P. Santavuori et al., Finnish variant late infantile NCL, BIOM HLTH R, 33, 1999, pp. 91-101
Authors:
Williams, RE
Kohlschutter, A
Santavuori, P
Mole, SE
Lake, BD
Citation: Re. Williams et al., NCL diagnostic algorithms, BIOM HLTH R, 33, 1999, pp. 149-151
Authors:
Autti, T
Muttilainen, M
Raininko, R
Heiskala, H
Puranen, J
Hakkinen, AM
Tienari, P
Santavuori, P
Suominen, P
Somer, M
Citation: T. Autti et al., Extensive cerebral white matter abnormality without clinical symptoms: A new hereditary condition?, ANN NEUROL, 45(6), 1999, pp. 801-805
Authors:
Autti, T
Rapola, J
Santavuori, P
Raininko, R
Renlund, M
Liukkonen, E
Lauronen, L
Wirtavuori, K
Hietala, M
Saarinen-Pihkala, U
Citation: T. Autti et al., Bone marrow transplantation in aspartylglucosaminuria - Histopathological and MRI study, NEUROPEDIAT, 30(6), 1999, pp. 283-288
Authors:
Lauronen, L
Munroe, PB
Jarvela, I
Autti, T
Mitchison, HM
O'Rawe, AM
Gardiner, RM
Mole, SE
Puranen, J
Hakkinen, AM
Kirveskari, E
Santavuori, P
Citation: L. Lauronen et al., Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis, NEUROLOGY, 52(2), 1999, pp. 360-365
Authors:
Aberg, L
Kirveskari, E
Santavuori, P
Citation: L. Aberg et al., Lamotrigine therapy in juvenile neuronal ceroid lipofuscinosis, EPILEPSIA, 40(6), 1999, pp. 796-799
Authors:
Corman, B
Avela, K
Pihko, H
Santavuori, P
Talim, B
Topaloglu, H
de la Chapelle, A
Lehesjoki, AE
Citation: B. Corman et al., Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping, AM J HU GEN, 64(1), 1999, pp. 126-135
Risultati:
1-24
|