-
2
-
-
24644503661
-
Encefalopatías progresivas sin anomalía metabólica conocida
-
Fejerman N, Fernández Álvarez E, eds. Buenos Aires: Panamericana;
-
Aicardi J. Encefalopatías progresivas sin anomalía metabólica conocida. En Fejerman N, Fernández Álvarez E, eds. Neurología pediátrica. Buenos Aires: Panamericana; 1997. p. 383-98.
-
(1997)
Neurología Pediátrica
, pp. 383-398
-
-
Aicardi, J.1
-
3
-
-
0029977035
-
Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses
-
Mole SE. Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses. J Inherit Metab Dis 1996; 19: 269-74.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 269-274
-
-
Mole, S.E.1
-
4
-
-
0024564327
-
The neuronal ceroid lipofuscinoses: A review
-
Paris
-
Boustany RM, Kolodny EH. The neuronal ceroid lipofuscinoses: a review. Rev Neurol (Paris) 1989; 145: 105-10.
-
(1989)
Rev Neurol
, vol.145
, pp. 105-110
-
-
Boustany, R.M.1
Kolodny, E.H.2
-
5
-
-
0029295606
-
Biopsia muscular en la ceroidolipofuscinosis: Estudio de tres casos de la forma juvenil
-
Pego R, Amigo MC, Escriche D, Romero J, Navarro C. Biopsia muscular en la ceroidolipofuscinosis: estudio de tres casos de la forma juvenil. Rev Neurol 1995; 23: 627-31.
-
(1995)
Rev Neurol
, vol.23
, pp. 627-631
-
-
Pego, R.1
Amigo, M.C.2
Escriche, D.3
Romero, J.4
Navarro, C.5
-
6
-
-
0030665622
-
Diagnóstico de las enfermedades neurometabólicas y neurodegenerativas mediante biopsia cutánea
-
Idoate-Gastearena MA, Vega-Vázquez F. Diagnóstico de las enfermedades neurometabólicas y neurodegenerativas mediante biopsia cutánea. Rev Neurol 1997; 25 (Supl 3): S269-80.
-
(1997)
Rev Neurol
, vol.25
, Issue.3 SUPPL.
-
-
Idoate-Gastearena, M.A.1
Vega-Vázquez, F.2
-
7
-
-
0000164319
-
Account of a singular illness among four sibling in the vicinity of Roraas
-
Stengel OC. Account of a singular illness among four sibling in the vicinity of Roraas. Eyr (Chrristiania) 1826; 1: 345-52.
-
(1826)
Eyr (Chrristiania)
, vol.1
, pp. 345-352
-
-
Stengel, O.C.1
-
8
-
-
0001509336
-
Cerebral degeneration with symmetrical changes in the maculae in two members of a family
-
UK
-
Batten F. Cerebral degeneration with symmetrical changes in the maculae in two members of a family. Trans Ophthalmol Soc (UK) 1903; 23: 386-90.
-
(1903)
Trans Ophthalmol Soc
, vol.23
, pp. 386-390
-
-
Batten, F.1
-
9
-
-
0024314921
-
The neuronal ceroid lipofuscinoses
-
Dyken PR. The neuronal ceroid lipofuscinoses. J Child Neurol 1989; 4: 165-74.
-
(1989)
J Child Neurol
, vol.4
, pp. 165-174
-
-
Dyken, P.R.1
-
10
-
-
0002534186
-
Über Spat-infantile, familiäre amaurotische Idiotie mit kleinhim Symptomen
-
Bielschowsky M. Über Spat-infantile, familiäre amaurotische Idiotie mit kleinhim Symptomen. Dtsch Z Nervenheik 1913; 50: 7-29.
-
(1913)
Dtsch Z Nervenheik
, vol.50
, pp. 7-29
-
-
Bielschowsky, M.1
-
11
-
-
24644466822
-
Klinische und anatomische Untersuchungen über eine besondere Form von familiäre amaurotische Idiotie
-
Spielmeyer W. Klinische und anatomische Untersuchungen über eine besondere Form von familiäre amaurotische Idiotie. Histol Histopathol 1908; 2: 193-215.
-
(1908)
Histol Histopathol
, vol.2
, pp. 193-215
-
-
Spielmeyer, W.1
-
12
-
-
84982342873
-
Die juvenile amaurotische Idiotie. Klinische und erblichkeitmedzinisch Untersuchungen
-
Sjögren T. Die juvenile amaurotische Idiotie. Klinische und erblichkeitmedzinisch Untersuchungen. Hereditas 1931; 14: 197-425.
-
(1931)
Hereditas
, vol.14
, pp. 197-425
-
-
Sjögren, T.1
-
13
-
-
51849173016
-
Über eine Spatform der amaurotischen Idiotie und ihre heredofamiliaren Grundlagen
-
Kuf H. Über eine Spatform der amaurotischen Idiotie und ihre heredofamiliaren Grundlagen. Zeitschrift für die Gesamte Neurologie und Psychiatrie 1925; 95; 168-88.
-
(1925)
Zeitschrift für die Gesamte Neurologie und Psychiatrie
, vol.95
, pp. 168-188
-
-
Kuf, H.1
-
14
-
-
0015595210
-
Infantile type of so-called neuronal ceroid-lipofuscinoses. I. A clinical study of 15 patients
-
Santavuori P, Haltia M, Rapola J, Raitta C. Infantile type of so-called neuronal ceroid-lipofuscinoses. I. A clinical study of 15 patients. J Neurol Sci 1973; 18: 257-67.
-
(1973)
J Neurol Sci
, vol.18
, pp. 257-267
-
-
Santavuori, P.1
Haltia, M.2
Rapola, J.3
Raitta, C.4
-
15
-
-
0014592170
-
Neuronal ceroid-lipofuscinoses (Batten's disease). Relationship to amaurotic familial idiocy?
-
Zeman W, Dyken P. Neuronal ceroid-lipofuscinoses (Batten's disease). Relationship to amaurotic familial idiocy? Pediatrics 1969; 44: 570-83.
-
(1969)
Pediatrics
, vol.44
, pp. 570-583
-
-
Zeman, W.1
Dyken, P.2
-
16
-
-
24644511241
-
Neuronal ceroid lipofuscinoses
-
Mole S. Neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol 1997; 5/6: 187.
-
(1997)
Eur J Paediatr Neurol
, vol.5
, Issue.6
, pp. 187
-
-
Mole, S.1
-
18
-
-
0024219698
-
Batten disease: Past, present, and future
-
Rider JA, Rider DI. Batten disease: past, present, and future. Am J Med Genet 1988; (Suppl 5): 21-6.
-
(1988)
Am J Med Genet
, Issue.5 SUPPL.
, pp. 21-26
-
-
Rider, J.A.1
Rider, D.I.2
-
19
-
-
0024251647
-
Clinical classification of neuronal ceroid lipofuscinoses subtypes
-
Boustany RM, Alroy J, Kolodny EH. Clinical classification of neuronal ceroid lipofuscinoses subtypes. Am J Med Genet 1988; 5: 47-58.
-
(1988)
Am J Med Genet
, vol.5
, pp. 47-58
-
-
Boustany, R.M.1
Alroy, J.2
Kolodny, E.H.3
-
20
-
-
0026100469
-
Infantile form of neuronal ceroid lipofuscinoses (CLN1) map to the short arm of chromosome 1
-
Jarvela I, Schleutker J, Haataja I, et al. Infantile form of neuronal ceroid lipofuscinoses (CLN1) map to the short arm of chromosome 1. Genomics 1991; 9: 170-3.
-
(1991)
Genomics
, vol.9
, pp. 170-173
-
-
Jarvela, I.1
Schleutker, J.2
Haataja, I.3
-
21
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995; 376: 584-8.
-
(1995)
Nature
, vol.376
, pp. 584-588
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
-
22
-
-
0002473397
-
Neurophysiological studies (EEG/ERG/ VEP/SEP) in 88 children with so-called neuronal ceroid lipofuscinosis
-
Armstrong D, Koppang N, Rider J, eds. Amsterdam: Elsevier
-
Harden A, Pampiglione G. Neurophysiological studies (EEG/ERG/ VEP/SEP) in 88 children with so-called neuronal ceroid lipofuscinosis. In Armstrong D, Koppang N, Rider J, eds. Ceroid lipofuscinoses (Batten's disease). Amsterdam: Elsevier; 1982. p. 61-70.
-
(1982)
Ceroid Lipofuscinoses (Batten's Disease)
, pp. 61-70
-
-
Harden, A.1
Pampiglione, G.2
-
23
-
-
0026535709
-
Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings
-
Autti T, Raininko R, Launes J, Nuutila A, Santavuori P. Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings. Pediatr Neurol 1992; 8: 121-6.
-
(1992)
Pediatr Neurol
, vol.8
, pp. 121-126
-
-
Autti, T.1
Raininko, R.2
Launes, J.3
Nuutila, A.4
Santavuori, P.5
-
24
-
-
0030298413
-
Neuroradiological findings in classical late infantile neuronal ceroid lipofuscinoses
-
Petersen B, Handwerker M, Huppertz HI. Neuroradiological findings in classical late infantile neuronal ceroid lipofuscinoses. Pediatr Neurol 1996; 15: 344-7.
-
(1996)
Pediatr Neurol
, vol.15
, pp. 344-347
-
-
Petersen, B.1
Handwerker, M.2
Huppertz, H.I.3
-
25
-
-
0032231360
-
MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis
-
Seitz D, Grodd W, Schwab A, Seeger U, Klose U, Nagele T. MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis. Am J Neuroradiol 1998; 19: 1373-7.
-
(1998)
Am J Neuroradiol
, vol.19
, pp. 1373-1377
-
-
Seitz, D.1
Grodd, W.2
Schwab, A.3
Seeger, U.4
Klose, U.5
Nagele, T.6
-
26
-
-
0029804637
-
Localized proton magnetic resonance spectroscopy of cerebral metabolic disturbances in children with neuronal ceroid lipofuscinosis
-
Brockmann K, Pouwels PJ, Chisten HJ, Frahm J, Hanefeld F. Localized proton magnetic resonance spectroscopy of cerebral metabolic disturbances in children with neuronal ceroid lipofuscinosis. Neuropediatrics 1996; 27: 5242-8.
-
(1996)
Neuropediatrics
, vol.27
, pp. 5242-5248
-
-
Brockmann, K.1
Pouwels, P.J.2
Chisten, H.J.3
Frahm, J.4
Hanefeld, F.5
-
27
-
-
0027178525
-
Seizures, depression and dementia in teenagers with Batten disease
-
Boustany RM, Filipek P. Seizures, depression and dementia in teenagers with Batten disease. J Inher Metab Dis 1993; 16: 252-5.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 252-255
-
-
Boustany, R.M.1
Filipek, P.2
-
28
-
-
0028110507
-
Spielmeyer-Vogt (Batten, Spielmeyer, Sjögren) disease. Distinctive patterns of cerebral glucose utilization
-
Philippart M, Nessa C, Chugani HT. Spielmeyer-Vogt (Batten, Spielmeyer, Sjögren) disease. Distinctive patterns of cerebral glucose utilization. Brain 1994; 117: 1085-92.
-
(1994)
Brain
, vol.117
, pp. 1085-1092
-
-
Philippart, M.1
Nessa, C.2
Chugani, H.T.3
-
29
-
-
24644456048
-
Patterns of NCL lesions in the CNS and the problem of related dysfunction
-
Braak H. Patterns of NCL lesions in the CNS and the problem of related dysfunction. Clin Neuropathol 1992; 11: 157a.
-
(1992)
Clin Neuropathol
, vol.11
-
-
Braak, H.1
-
31
-
-
0029051248
-
Pathogenesis of brain dysfunction in Batten disease
-
Walkley SU, March PA, Schroeder CE, Wurzelmann S, Jolly RD. Pathogenesis of brain dysfunction in Batten disease. Am J Med Genet 1995; 57: 196-203.
-
(1995)
Am J Med Genet
, vol.57
, pp. 196-203
-
-
Walkley, S.U.1
March, P.A.2
Schroeder, C.E.3
Wurzelmann, S.4
Jolly, R.D.5
-
32
-
-
0030038060
-
Apoptosis as the mechanism of neurodegeneration in Batten's disease
-
Lane S, Jolly RD, Schmechel DE, Alroy J, Boustany RM. Apoptosis as the mechanism of neurodegeneration in Batten's disease. J Neurochem 1996; 67: 677-83.
-
(1996)
J Neurochem
, vol.67
, pp. 677-683
-
-
Lane, S.1
Jolly, R.D.2
Schmechel, D.E.3
Alroy, J.4
Boustany, R.M.5
-
33
-
-
0026035878
-
Juvenile ceroid-lipofuscinosis. Evidence for methylated lisien in neural storage body protein
-
Kate ML, Rodríguez M. Juvenile ceroid-lipofuscinosis. Evidence for methylated lisien in neural storage body protein. Am J Pathol 1992; 138: 323-32.
-
(1992)
Am J Pathol
, vol.138
, pp. 323-332
-
-
Kate, M.L.1
Rodríguez, M.2
-
34
-
-
0032793574
-
Molecular genetics of the neuronal ceroid lipofuscinoses
-
Mole S, Gardiner M. Molecular genetics of the neuronal ceroid lipofuscinoses. Epilepsia 1999; 40 (Suppl 3): 29-32.
-
(1999)
Epilepsia
, vol.40
, Issue.3 SUPPL.
, pp. 29-32
-
-
Mole, S.1
Gardiner, M.2
-
35
-
-
0033365201
-
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinoses, a neurodegenerative lysosomal storage disorder
-
Sleat DE, Gin RM, Sohar I, Wisniewski K, et al. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinoses, a neurodegenerative lysosomal storage disorder. Am J Hum Genet 1999; 64: 1511-23.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1511-1523
-
-
Sleat, D.E.1
Gin, R.M.2
Sohar, I.3
Wisniewski, K.4
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