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Volumn 45, Issue , 2001, Pages 1-34

1 Neuronal ceroid lipofuscinoses: Classification and diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; CHILD; CLASSIFICATION; GENETICS; GENOTYPE; HUMAN; INFANT; MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; REVIEW;

EID: 0035221979     PISSN: 00652660     EISSN: None     Source Type: Book Series    
DOI: 10.1016/s0065-2660(01)45002-4     Document Type: Article
Times cited : (70)

References (84)
  • 2
    • 0001509336 scopus 로고
    • Cerebral degeneration with symmetrical changes in the maculae in two members of the family
    • Batten F.E. Cerebral degeneration with symmetrical changes in the maculae in two members of the family Trans. Ophthalmol. Soc. UK 23 1903 386 390
    • (1903) Trans. Ophthalmol. Soc. UK , vol.23 , pp. 386-390
    • Batten, F.E.1
  • 4
    • 0002534186 scopus 로고
    • U¨ber spa¨te-infantile familia¨re amaurotische Idiotie mit Kleinhimsymptomen
    • Bielschowsky M. U¨ber spa¨te-infantile familia¨re amaurotische Idiotie mit Kleinhimsymptomen Dtsch. Z. Nervenheilk. 50 1923 7 29
    • (1923) Dtsch. Z. Nervenheilk. , vol.50 , pp. 7-29
    • Bielschowsky, M.1
  • 5
    • 0027518208 scopus 로고
    • Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitat from H-Ras
    • Camp L.A. Hofmann S.L. Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitat from H-Ras J. Biol. Chem. 268 1993 22566 22574
    • (1993) J. Biol. Chem. , vol.268 , pp. 22566-22574
    • Camp, L.A.1    Hofmann, S.L.2
  • 7
    • 0029079209 scopus 로고
    • Neuronal ceroid-lipofuscinoses in Italy: An epidemiological study
    • Cardona F. Rosati E. Neuronal ceroid-lipofuscinoses in Italy: An epidemiological study Am. J. Med. Genet. 57 1995 142 143
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 142-143
    • Cardona, F.1    Rosati, E.2
  • 8
    • 0015547256 scopus 로고
    • A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits
    • Carpenter S. Karpati G. Wolfe L.S. Andermann F. A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits J. Neurol. Sci. 18 1973 67 87
    • (1973) J. Neurol. Sci. , vol.18 , pp. 67-87
    • Carpenter, S.1    Karpati, G.2    Wolfe, L.S.3    Andermann, F.4
  • 9
    • 0031866280 scopus 로고    scopus 로고
    • Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis
    • Cho S. Dawson G. Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis J. Neurochem. 71 1998 323 329
    • (1998) J. Neurochem. , vol.71 , pp. 323-329
    • Cho, S.1    Dawson, G.2
  • 10
    • 0026569056 scopus 로고
    • Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders
    • Claussen M. Heim P. Knispel J. Goebel H.H. Kohlschu¨tter A. Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders Am. J. Med. Genet. 42 1992 536 538
    • (1992) Am. J. Med. Genet. , vol.42 , pp. 536-538
    • Claussen, M.1    Heim, P.2    Knispel, J.3    Goebel, H.H.4    Kohlschu¨tter, A.5
  • 12
    • 0027490620 scopus 로고
    • Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis
    • Chow C.W. Borg J. Billson V.R. Lake B.D. Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis Prenat. Diagn. 13 1993 833 841
    • (1993) Prenat. Diagn. , vol.13 , pp. 833-841
    • Chow, C.W.1    Borg, J.2    Billson, V.R.3    Lake, B.D.4
  • 13
    • 0030810816 scopus 로고    scopus 로고
    • Batten disease in the West of Scotland 1974–1995 including five cases of the juvenile form with granular osmiophilic deposits
    • Crow Y.J. Tolmie J.L. Howatson A.G. Patrick W.J. Stephenson J.B. Batten disease in the West of Scotland 1974–1995 including five cases of the juvenile form with granular osmiophilic deposits Neuropediatrics 28 1997 140 144
    • (1997) Neuropediatrics , vol.28 , pp. 140-144
    • Crow, Y.J.1    Tolmie, J.L.2    Howatson, A.G.3    Patrick, W.J.4    Stephenson, J.B.5
  • 15
    • 0029075391 scopus 로고
    • Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms
    • Dyken P. Wisniewski K. Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms Am. J. Med. Genet. 57 1995 150 154
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 150-154
    • Dyken, P.1    Wisniewski, K.2
  • 16
    • 0031290291 scopus 로고    scopus 로고
    • Neuronal ceroid lipofuscinosis in the Czech Republic: Analysis of 57 cases. Report of the ‘Prague NCL group’
    • Elleder M. Franc J. Kraus J. Nevsimalova S. Sixtova K. Zeman J. Neuronal ceroid lipofuscinosis in the Czech Republic: Analysis of 57 cases. Report of the ‘Prague NCL group’ Eur. J. Pediatr. Neurol. 4 1997 109 114
    • (1997) Eur. J. Pediatr. Neurol. , vol.4 , pp. 109-114
    • Elleder, M.1    Franc, J.2    Kraus, J.3    Nevsimalova, S.4    Sixtova, K.5    Zeman, J.6
  • 17
    • 47749118333 scopus 로고    scopus 로고
    • NCL in different European countries: Czech Republic
    • Elleder M. Kraus J. Nevsimalova´ S. Sixtova´ K. Zeman J. NCL in different European countries: Czech Republic Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 129
    • (1999) , pp. 129
    • Elleder, M.1    Kraus, J.2    Nevsimalova´, S.3    Sixtova´, K.4    Zeman, J.5
  • 18
    • 0024344361 scopus 로고
    • Adult neuronal ceroid lipofuscinosis
    • Goebel H.H. Braak H. Adult neuronal ceroid lipofuscinosis Clin. Neuropathol. 8 1989 109 119
    • (1989) Clin. Neuropathol. , vol.8 , pp. 109-119
    • Goebel, H.H.1    Braak, H.2
  • 19
    • 0017200656 scopus 로고
    • The protracted form of juvenile neuronal ceroid lipofuscinosis
    • Goebel H.H. Pilz H. Gullotta F. The protracted form of juvenile neuronal ceroid lipofuscinosis Acta Neuropathol. (Berl.) 36 1976 393 396
    • (1976) Acta Neuropathol. (Berl.) , vol.36 , pp. 393-396
    • Goebel, H.H.1    Pilz, H.2    Gullotta, F.3
  • 21
    • 0003420470 scopus 로고    scopus 로고
    • Introduction
    • Goebel H.H. Mole S.E. Lake B.D. Introduction Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 1 4
    • (1999) , pp. 1-4
    • Goebel, H.H.1    Mole, S.E.2    Lake, B.D.3
  • 22
    • 0001878169 scopus 로고
    • Spa¨tform der amaurotischen Idiotie unter Bilde der Paralysis agitans
    • Hallervorden J. Spa¨tform der amaurotischen Idiotie unter Bilde der Paralysis agitans Mschr. Psychiat. Neurol. 99 1938 74 80
    • (1938) Mschr. Psychiat. Neurol. , vol.99 , pp. 74-80
    • Hallervorden, J.1
  • 23
    • 0015815856 scopus 로고
    • Infantile type of so-called neuronal ceroid lipofuscinosis. Histological and electron microscopic studies
    • Haltia M. Rapola J. Santavouri P. Infantile type of so-called neuronal ceroid lipofuscinosis. Histological and electron microscopic studies Acta Neuropathol. (Berl.) 26 1973 157 170
    • (1973) Acta Neuropathol. (Berl.) , vol.26 , pp. 157-170
    • Haltia, M.1    Rapola, J.2    Santavouri, P.3
  • 25
    • 0029048726 scopus 로고
    • Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD)
    • Hofman I.L. Taschner E.M. Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD) Am. J. Med. Genet. 57 1995 165 167
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 165-167
    • Hofman, I.L.1    Taschner, E.M.2
  • 26
    • 0032798744 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency
    • Hofmann S.L. Das A.K. Yi W. Lu J.-Y. Wisniewski K.E. Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency Mol. Genet. Metab. 66 1999 234 239
    • (1999) Mol. Genet. Metab. , vol.66 , pp. 234-239
    • Hofmann, S.L.1    Das, A.K.2    Yi, W.3    Lu, J.-Y.4    Wisniewski, K.E.5
  • 27
    • 0029147298 scopus 로고
    • Isolation of a novel gene underlying Batten disease, CLN3
    • International Batten Disease Consortium (IBDC) Isolation of a novel gene underlying Batten disease, CLN3 Cell 82 1995 949 957
    • (1995) Cell , vol.82 , pp. 949-957
    • International Batten Disease Consortium (IBDC)1
  • 29
    • 0001237639 scopus 로고
    • Dosud nepopsany`prřipad familia´rni auroticke´-idiotie kompliklovane´s hypoplasii mozecˇkovou
    • Jansky´ J. Dosud nepopsany`prřipad familia´rni auroticke´-idiotie kompliklovane´s hypoplasii mozecˇkovou Sborn. Le´k. 13 1908 165 196
    • (1908) Sborn. Le´k. , vol.13 , pp. 165-196
    • Jansky´, J.1
  • 30
    • 0030727127 scopus 로고    scopus 로고
    • Clinical and magnetic resonance imaging findings in Batten disease: Analysis of the major mutation (1.02-kb deletion)
    • Ja¨rvela¨ I. Autti T. Lamminranta S. Aberg L. Raininko R. Santavuori P. Clinical and magnetic resonance imaging findings in Batten disease: Analysis of the major mutation (1.02-kb deletion) Ann. Neurol. 42 1997 799 802
    • (1997) Ann. Neurol. , vol.42 , pp. 799-802
    • Ja¨rvela¨, I.1    Autti, T.2    Lamminranta, S.3    Aberg, L.4    Raininko, R.5    Santavuori, P.6
  • 31
    • 0033001893 scopus 로고    scopus 로고
    • A novel assay for lysosomal pepstatin-insensitive protease and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis
    • Junaid M.A. Sklower Brooks S. Wisniewski K.E. Pullarkar R.K. A novel assay for lysosomal pepstatin-insensitive protease and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis Clin. Chim. Acta 281 1999 169 176
    • (1999) Clin. Chim. Acta , vol.281 , pp. 169-176
    • Junaid, M.A.1    Sklower Brooks, S.2    Wisniewski, K.E.3    Pullarkar, R.K.4
  • 32
    • 51849173016 scopus 로고
    • U¨ber eine Spa¨tform der amaurotischen Idiotie und ihre heredofamiliaren Grundlagen
    • Kufs H. U¨ber eine Spa¨tform der amaurotischen Idiotie und ihre heredofamiliaren Grundlagen Z. Ges. Neurol. Psychiat. 95 1925 169 188
    • (1925) Z. Ges. Neurol. Psychiat. , vol.95 , pp. 169-188
    • Kufs, H.1
  • 33
    • 0017887981 scopus 로고
    • Early-juvenile Batten's disease—A recognizable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients
    • Lake B.D. Cavanaugh N.P. Early-juvenile Batten's disease—A recognizable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients J. Neurol. Sci. 36 1978 265 271
    • (1978) J. Neurol. Sci. , vol.36 , pp. 265-271
    • Lake, B.D.1    Cavanaugh, N.P.2
  • 34
    • 0029847878 scopus 로고    scopus 로고
    • A form of juvenile Batten disease with granular osmiophilic deposits
    • Lake B.D. Brett E.M. Boyd S.G. A form of juvenile Batten disease with granular osmiophilic deposits Neuropediatrics 27 1996 265 269
    • (1996) Neuropediatrics , vol.27 , pp. 265-269
    • Lake, B.D.1    Brett, E.M.2    Boyd, S.G.3
  • 35
    • 0030833660 scopus 로고    scopus 로고
    • Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease
    • Lake B.D. Steward C.G. Oakhill A. Wilson J. Perham T.G.M. Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease Neuropediatrics 28 1997 80 81
    • (1997) Neuropediatrics , vol.28 , pp. 80-81
    • Lake, B.D.1    Steward, C.G.2    Oakhill, A.3    Wilson, J.4    Perham, T.G.M.5
  • 38
    • 0030786650 scopus 로고    scopus 로고
    • Adult neuronal ceroid-lipofuscinosis: Personal observations
    • Martin J.J. Ceuterick C. Adult neuronal ceroid-lipofuscinosis: Personal observations Acta Neurol. Belg. 97 1997 85 92
    • (1997) Acta Neurol. Belg. , vol.97 , pp. 85-92
    • Martin, J.J.1    Ceuterick, C.2
  • 39
    • 0023506121 scopus 로고
    • Ultrastructural of brain and retina in Kufs'disease (adult type-ceroid-lipofuscinosis)
    • Martin J.J. Libert J. Ceuterick C. Ultrastructural of brain and retina in Kufs'disease (adult type-ceroid-lipofuscinosis) Clin. Neuropathol. 6 1987 231 235
    • (1987) Clin. Neuropathol. , vol.6 , pp. 231-235
    • Martin, J.J.1    Libert, J.2    Ceuterick, C.3
  • 41
    • 0032838468 scopus 로고    scopus 로고
    • Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5
    • Mole S.E. Mitchison H.M. Munroe P.B. Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5 Hum. Mutat. 14 1999 199 215
    • (1999) Hum. Mutat. , vol.14 , pp. 199-215
    • Mole, S.E.1    Mitchison, H.M.2    Munroe, P.B.3
  • 43
    • 0029068066 scopus 로고
    • New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy
    • Philippart M. Chugani H.T. Bronwyn Bateman J. New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy Am. J. Med. Genet. 57 1995 160 164
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 160-164
    • Philippart, M.1    Chugani, H.T.2    Bronwyn Bateman, J.3
  • 45
    • 0025029414 scopus 로고
    • Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi
    • Rapola J. Salonen R. Ammala P. Santavuori P. Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi Prenat. Diagn. 10 1990 553 559
    • (1990) Prenat. Diagn. , vol.10 , pp. 553-559
    • Rapola, J.1    Salonen, R.2    Ammala, P.3    Santavuori, P.4
  • 46
    • 0032897884 scopus 로고    scopus 로고
    • Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis
    • Rawlings N.D. Barrett A.J. Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis Biochem. Biophys. Acta 1429 1999 496 500
    • (1999) Biochem. Biophys. Acta , vol.1429 , pp. 496-500
    • Rawlings, N.D.1    Barrett, A.J.2
  • 47
    • 0023917534 scopus 로고
    • Neuronal ceroid-lipofuscinoses in childhood
    • Santavuori P. Neuronal ceroid-lipofuscinoses in childhood Brain Dev. 10 1988 80 83
    • (1988) Brain Dev. , vol.10 , pp. 80-83
    • Santavuori, P.1
  • 48
    • 0015595210 scopus 로고
    • Infantile type of so-called neuronal ceroid-lipofuscinosis Part 1. A clinical study of 15 patients
    • Santavuori P. Haltia M. Rapola J. Raitta C. Infantile type of so-called neuronal ceroid-lipofuscinosis Part 1. A clinical study of 15 patients J. Neurol. Sci. 18 1973 257 267
    • (1973) J. Neurol. Sci. , vol.18 , pp. 257-267
    • Santavuori, P.1    Haltia, M.2    Rapola, J.3    Raitta, C.4
  • 50
    • 0025148652 scopus 로고
    • Comparison of the clinical courses in patients with juvenile neuronal ceroid lipofuscinosis receiving antioxidant treatment and those without antioxidant treatment
    • Santavuori P. Heiskala H. Autti T. Johansson E. Westermarck T. Comparison of the clinical courses in patients with juvenile neuronal ceroid lipofuscinosis receiving antioxidant treatment and those without antioxidant treatment Porta E.A. Lipofuscin and Ceroid Pigments 1989 Plenum Press New York 273 282
    • (1989) , pp. 273-282
    • Santavuori, P.1    Heiskala, H.2    Autti, T.3    Johansson, E.4    Westermarck, T.5
  • 51
    • 0001862748 scopus 로고    scopus 로고
    • CLN1 Infantile and other types of NCL with GROD
    • Santavuori P. Gottlob I. Haltia M. Rapola J. Lake B.D. Tyynela¨ J. Peltonen L. CLN1 Infantile and other types of NCL with GROD Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 16 36
    • (1999) , pp. 16-36
    • Santavuori, P.1    Gottlob, I.2    Haltia, M.3    Rapola, J.4    Lake, B.D.5    Tyynela¨, J.6    Peltonen, L.7
  • 54
    • 0031803649 scopus 로고    scopus 로고
    • CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
    • Savukoski M. Klockars T. Holmberg V. Santavuori P. Lander E.S. Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis Nat. Genet. 19 1998 286 288
    • (1998) Nat. Genet. , vol.19 , pp. 286-288
    • Savukoski, M.1    Klockars, T.2    Holmberg, V.3    Santavuori, P.4    Lander, E.S.5    Peltonen, L.6
  • 56
    • 0030866233 scopus 로고    scopus 로고
    • Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
    • Sleat D.E. Donnelly R.J. Lackland H. Liu C.G. Sohar I. Pullarkat R.K. Lobel P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis Science 277 1997 1802 1805
    • (1997) Science , vol.277 , pp. 1802-1805
    • Sleat, D.E.1    Donnelly, R.J.2    Lackland, H.3    Liu, C.G.4    Sohar, I.5    Pullarkat, R.K.6    Lobel, P.7
  • 58
    • 0032778867 scopus 로고    scopus 로고
    • Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models
    • Sohar I. Sleat D.E. Jadot M. Lobel P. Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models J. Neurochem. 73 1999 700 711
    • (1999) J. Neurochem. , vol.73 , pp. 700-711
    • Sohar, I.1    Sleat, D.E.2    Jadot, M.3    Lobel, P.4
  • 60
    • 0000164319 scopus 로고
    • Account of a singular illness among four siblings in the vicinity of Røraas
    • Stengel C. Account of a singular illness among four siblings in the vicinity of Røraas Armstrong D. Ceroid-Lipofuscinosis (Batten's Disease) 1826 Elsevier Biomedical Press Amsterdam, The Netherlands 17 19
    • (1826) , pp. 17-19
    • Stengel, C.1
  • 61
    • 85120131770 scopus 로고
    • Beretning om et maerkeligt Sygdomstilfoelde hos fire Sødskende I Naeheden af Røraas Eyr et medicinsk Tidskrift 1 1982 347 352 Translated from
    • (1982) Eyr et medicinsk Tidskrift , vol.1 , pp. 347-352
  • 65
    • 0030738272 scopus 로고    scopus 로고
    • Neuronal ceroid lipofuscinosis in Scandinavia. Epidemiological and clinical pictures
    • Uvebrant P. Hagberg B. Neuronal ceroid lipofuscinosis in Scandinavia. Epidemiological and clinical pictures Neuropediatrics 28 1997 6 8
    • (1997) Neuropediatrics , vol.28 , pp. 6-8
    • Uvebrant, P.1    Hagberg, B.2
  • 67
    • 0031010370 scopus 로고    scopus 로고
    • Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease
    • Verkruyse L.A. Natowicz M.R. Hofmann S.L. Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease Biochem. Biophys. Acta 1361 1997 1 5
    • (1997) Biochem. Biophys. Acta , vol.1361 , pp. 1-5
    • Verkruyse, L.A.1    Natowicz, M.R.2    Hofmann, S.L.3
  • 69
    • 0033052570 scopus 로고    scopus 로고
    • Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I
    • Vines D. Warburton N.J. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I FEBS Lett. 443 1999 131 135
    • (1999) FEBS Lett. , vol.443 , pp. 131-135
    • Vines, D.1    Warburton, N.J.2
  • 70
    • 0342985657 scopus 로고    scopus 로고
    • Identification of three novel mutations of the palmitoyl-protein thioesterase (PPT) gene in children with neuronal ceroid-lipofuscinosis
    • Waliany S.A.K. Das A.K. Gaben A. Wisniewski K.E. Hofmann S.L. Identification of three novel mutations of the palmitoyl-protein thioesterase (PPT) gene in children with neuronal ceroid-lipofuscinosis Hum. Mutat. Mutation 1999 in Brief #290
    • (1999) Hum. Mutat. Mutation
    • Waliany, S.A.K.1    Das, A.K.2    Gaben, A.3    Wisniewski, K.E.4    Hofmann, S.L.5
  • 71
    • 0002935737 scopus 로고    scopus 로고
    • CLN6 Variant Late Infantile/Early Juvenile NCL
    • Williams R.E. Lake B.D. Elleder M. Sharp J.D. CLN6 Variant Late Infantile/Early Juvenile NCL Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 102 116
    • (1999) , pp. 102-116
    • Williams, R.E.1    Lake, B.D.2    Elleder, M.3    Sharp, J.D.4
  • 72
    • 0000832304 scopus 로고    scopus 로고
    • CLN7 Turkish Variant Late Infantile NCL
    • Williams R.E. Topçu M. Lake B.D. Mitchell W. Mole S.E. CLN7 Turkish Variant Late Infantile NCL Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 114 116
    • (1999) , pp. 114-116
    • Williams, R.E.1    Topçu, M.2    Lake, B.D.3    Mitchell, W.4    Mole, S.E.5
  • 73
    • 0024196294 scopus 로고
    • Clinico-pathological variability in the childhood neuronal ceroid lipofuscinoses and new observations on glycoprotein abnormalities
    • Wisniewski K.E. Rapin I. Heaney-Kieras J. Clinico-pathological variability in the childhood neuronal ceroid lipofuscinoses and new observations on glycoprotein abnormalities Am. J. Med. Genet. Suppl. 5 1988 27 46
    • (1988) Am. J. Med. Genet. Suppl. , vol.5 , pp. 27-46
    • Wisniewski, K.E.1    Rapin, I.2    Heaney-Kieras, J.3
  • 74
    • 0026524217 scopus 로고
    • Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations
    • Wisniewski K.E. Kida E. Patxot O.F. Connell F. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations Am. J. Med. Genet. 42 1992 525 532
    • (1992) Am. J. Med. Genet. , vol.42 , pp. 525-532
    • Wisniewski, K.E.1    Kida, E.2    Patxot, O.F.3    Connell, F.4
  • 75
    • 0028359805 scopus 로고
    • Increased urine levels of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinosis patients
    • Wisniewski K.E. Golabek A.A. Kida E. Increased urine levels of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinosis patients J. Iher. Metab. Dis. 17 1994 205 210
    • (1994) J. Iher. Metab. Dis. , vol.17 , pp. 205-210
    • Wisniewski, K.E.1    Golabek, A.A.2    Kida, E.3
  • 76
    • 0029045151 scopus 로고
    • Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses
    • Wisniewski K.E. Kaczmarski W. Golabek A.A. Kida E. Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses Am. J. Med. Genet. 57 1995 246 249
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 246-249
    • Wisniewski, K.E.1    Kaczmarski, W.2    Golabek, A.A.3    Kida, E.4
  • 80
    • 0033774737 scopus 로고    scopus 로고
    • Neuronal ceroid lipofuscinoses: research update
    • Wisniewski K.E. Kida E. Connell Zhong N. Neuronal ceroid lipofuscinoses: research update Neurol. Sci. 21 Suppl. 3 2000 S49 S56
    • (2000) Neurol. Sci. , vol.21 , Issue.Suppl. 3 , pp. S49-S56
    • Wisniewski, K.E.1    Kida, E.2    Connell, Zhong N.3
  • 81
    • 0001400430 scopus 로고
    • The neuronal ceroid lipofuscinoses
    • Zeman W. The neuronal ceroid lipofuscinoses Zimmerman H.M. Progress in Neuropathology Vol. III 1976 Grune & Stratton New York 203 223
    • (1976) , pp. 203-223
    • Zeman, W.1
  • 82
    • 0014592170 scopus 로고
    • Neuronal ceroid-lipofuscinosis (Batten's disease). Relationship to amaurotic family idiocy?
    • Zeman W. Dyken P. Neuronal ceroid-lipofuscinosis (Batten's disease). Relationship to amaurotic family idiocy? Pediatrics 44 1969 570 583
    • (1969) Pediatrics , vol.44 , pp. 570-583
    • Zeman, W.1    Dyken, P.2


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