Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients

[1]  M. Schuelke,et al.  Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X) , 2009, Clinical genetics.

[2]  T. Autti,et al.  A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. , 2009, Pediatric neurology.

[3]  H. Marshall,et al.  The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland , 2008, Clinical genetics.

[4]  T. Autti,et al.  JNCL patients show marked brain volume alterations on longitudinal MRI in adolescence , 2008, Journal of Neurology.

[5]  T. Autti,et al.  Juvenile‐onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl‐protein thioesterase deficiency , 2007, European journal of neurology.

[6]  A. Lehesjoki,et al.  Molecular genetics of the NCLs -- status and perspectives. , 2006, Biochimica et biophysica acta.

[7]  J. Mink,et al.  A clinical rating scale for Batten disease , 2005, Neurology.

[8]  H. Goebel,et al.  Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses , 2005, Neurogenetics.

[9]  H. Goebel,et al.  Current State of Clinical and Morphological Features in Human NCL , 2004, Brain pathology.

[10]  S. Mole Neuronal ceroid lipofuscinoses (NCL). , 2004, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[11]  A. Quattrone,et al.  A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis , 2002, Journal of Neurology.

[12]  S. Mole Neuronal ceroid lipofuscinoses. , 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[13]  T. Autti,et al.  Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. , 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[14]  E. Kirveskari,et al.  Epilepsy and Antiepileptic Drug Therapy in Juvenile Neuronal Ceroid Lipofuscinosis , 2000, Epilepsia.

[15]  L. Lauronen,et al.  Chapter 62 Neuronal ceroid lipofuscinoses in childhood , 2000 .

[16]  L. D'Incerti MRI in neuronal ceroid lipofuscinosis , 2000, Neurological Sciences.

[17]  K. Wisniewski,et al.  Neuronal ceroid lipofuscinoses: research update , 2000, Neurological Sciences.

[18]  K. Jellinger The Neuronal Ceroid Lipofuscinosis (Batten Disease) , 1999 .

[19]  E. Kirveskari,et al.  Lamotrigine Therapy in Juvenile Neuronal Ceroid Lipofuscinosis , 1999, Epilepsia.

[20]  K. Wisniewski,et al.  Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations. , 1999, Molecular genetics and metabolism.

[21]  K. Wisniewski,et al.  Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. , 1999, Molecular genetics and metabolism.

[22]  P. Munroe,et al.  Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis , 1999, Neurology.

[23]  K. Wisniewski,et al.  Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. , 1998, The Journal of clinical investigation.

[24]  T. Autti,et al.  Atypical juvenile neuronal ceroid liposfuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall , 1998, Acta Neuropathologica.

[25]  P. Munroe,et al.  Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. , 1998, Human molecular genetics.

[26]  Kobert S. Schwartz,et al.  Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis , 1998, Annals of neurology.

[27]  H. Goebel,et al.  The Neuronal Ceroid‐Lipofuscinoses. Recent Advances , 1998, Brain pathology.

[28]  W. Brown,et al.  Studies of atypical JNCL suggest overlapping with other NCL forms. , 1998, Pediatric neurology.

[29]  P. Munroe,et al.  Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297)) , 1998 .

[30]  T. Lerner,et al.  Spectrum of mutations in the Batten disease gene, CLN3. , 1997, American journal of human genetics.

[31]  P. Uvebrant,et al.  Neuronal Ceroid Lipofuscinoses in Scandinavia: Epidemiology and Clinical Pictures , 1997, Neuropediatrics.

[32]  H. Goebel The neuronal ceroid-lipofuscinoses. , 2011, Seminars in pediatric neurology.

[33]  J. Haines,et al.  Isolation of a novel gene underlying batten disease, CLN3 , 1995, Cell.

[34]  J. Bateman,et al.  New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy. , 1995, American journal of medical genetics.

[35]  P. Taschner,et al.  Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD). , 1995, American journal of medical genetics.

[36]  J. Rapola Neuronal ceroid-lipofuscinoses in childhood. , 1993, Perspectives in pediatric pathology.

[37]  O. H. Lowry,et al.  Protein measurement with the Folin phenol reagent. , 1951, The Journal of biological chemistry.