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Quoted phrase not found in phrase index: "Neuronal ceroid lipofuscinosis 3"
Page 1
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
Panjeshahi S, Karimzadeh P, Movafagh A, Ahmadabadi F, Rahimian E, Alijanpour S, Miryounesi M. Panjeshahi S, et al. Hum Genet. 2023 Aug;142(8):1001-1016. doi: 10.1007/s00439-023-02556-y. Epub 2023 Apr 19. Hum Genet. 2023. PMID: 37074398
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative lysosomal storage diseases which are considered among the most frequent causes of dementia in childhood worldwide This study aimed to identify the gene variants, molecular etiologies, and clinical fe …
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative lysosomal storage diseases which are considered among the m …
Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease.
Munesue Y, Ageyama N, Kimura N, Takahashi I, Nakayama S, Okabayashi S, Katakai Y, Koie H, Yagami KI, Ishii K, Tamaoka A, Yasutomi Y, Shimozawa N. Munesue Y, et al. Exp Neurol. 2023 May;363:114381. doi: 10.1016/j.expneurol.2023.114381. Epub 2023 Mar 12. Exp Neurol. 2023. PMID: 36918063
Neuronal ceroid lipofuscinoses (NCLs) are autosomal-recessive fatal neurodegenerative diseases that occur in children and young adults, with symptoms including ataxia, seizures and visual impairment. ...Neurons observed throughout the central nervous s …
Neuronal ceroid lipofuscinoses (NCLs) are autosomal-recessive fatal neurodegenerative diseases that occur in children a …
Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
Klein M, Kaleem A, Oetjen S, Wünkhaus D, Binkle L, Schilling S, Gjorgjieva M, Scholz R, Gruber-Schoffnegger D, Storch S, Kins S, Drewes G, Hoffmeister-Ullerich S, Kuhl D, Hermey G. Klein M, et al. Autophagy. 2022 Sep;18(9):2068-2085. doi: 10.1080/15548627.2021.2016232. Epub 2021 Dec 29. Autophagy. 2022. PMID: 34964690 Free PMC article.
Here, we screened for PSENEN-interacting proteins and identified CLN3. Mutations in CLN3 are causative for juvenile neuronal ceroid lipofuscinosis, a rare lysosomal storage disorder considered the most common neurodegenerative disease in children. ...Our stud …
Here, we screened for PSENEN-interacting proteins and identified CLN3. Mutations in CLN3 are causative for juvenile neuronal ceroi …
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities.
Lehwald LM, Pappa R, Steward S, de Los Reyes E. Lehwald LM, et al. Pediatr Neurol. 2016 Jun;59:30-5. doi: 10.1016/j.pediatrneurol.2016.02.009. Epub 2016 Mar 3. Pediatr Neurol. 2016. PMID: 27105763 Clinical Trial.
PURPOSE: The aims of this study were to evaluate sleep difficulties in children with neuronal ceroid lipofuscinosis and to determine the association between the sleep difficulties and the onset of seizures and loss of vision. ...Restless leg syndrome symptoms …
PURPOSE: The aims of this study were to evaluate sleep difficulties in children with neuronal ceroid lipofuscinosis and …
Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis.
Aungaroon G, Hallinan B, Jain P, Horn PS, Spaeth C, Arya R. Aungaroon G, et al. Pediatr Neurol. 2016 Jul;60:42-48.e4. doi: 10.1016/j.pediatrneurol.2016.03.018. Epub 2016 Apr 8. Pediatr Neurol. 2016. PMID: 27238410 Review.
BACKGROUND: Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. ...The estimated age of onset was respectively lower for subjects with CLN1 mutation (3.01 years, 95% confidence interval [CI] = 2.54 to 3.49) and hi …
BACKGROUND: Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. ...The estimated age of …
Brain proton MR spectroscopy measurements in CLN3 disease.
Dang Do AN, Baker EH, Farmer CA, Soldatos AG, Thurm AE, Porter FD. Dang Do AN, et al. Mol Genet Metab. 2023 May;139(1):107584. doi: 10.1016/j.ymgme.2023.107584. Epub 2023 Apr 15. Mol Genet Metab. 2023. PMID: 37086568
Baseline concentrations of brain metabolites measured by MRS were compared to concurrently collected dimensional assessment measures: Vineland-3 Adaptive Behavior Composite (ABC) score, verbal intelligence quotient (VIQ), and the Physical, Capability with actual vis …
Baseline concentrations of brain metabolites measured by MRS were compared to concurrently collected dimensional assessment measures: Vinela …
Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.
Valadares ER, Pizarro MX, Oliveira LR, Amorim RH, Pinheiro TM, Grieben U, Santos HH, Queiroz RR, Lopes Gde C, Godard AL. Valadares ER, et al. Arq Neuropsiquiatr. 2011 Feb;69(1):13-8. doi: 10.1590/s0004-282x2011000100004. Arq Neuropsiquiatr. 2011. PMID: 21359416 Free article.
OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. ...Nyctalopia was the first symptom in one deceased child. The visual loss of …
OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the m …
Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.
Seifert C, Storch S, Bähring R. Seifert C, et al. J Biol Chem. 2020 Aug 21;295(34):12099-12110. doi: 10.1074/jbc.RA120.013828. Epub 2020 Jul 7. J Biol Chem. 2020. PMID: 32641494 Free PMC article.
KChIP3 has been reported to also interact with the late endosomal/lysosomal membrane glycoprotein CLN3 (ceroid lipofuscinosis neuronal 3), which is modified because of gene mutation in juvenile neuronal ceroid lipofuscinosis (JNCL) …
KChIP3 has been reported to also interact with the late endosomal/lysosomal membrane glycoprotein CLN3 (ceroid lipofuscinosis …
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype.
Quagliato EMAB, Rocha DM, Sacai PY, Watanabe SS, Salomão SR, Berezovsky A. Quagliato EMAB, et al. Arq Bras Oftalmol. 2017 Jul-Aug;80(4):215-219. doi: 10.5935/0004-2749.20170053. Arq Bras Oftalmol. 2017. PMID: 28954019 Free article.
PURPOSE: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. ...RESULTS: Progressive …
PURPOSE: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neurona …
Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients.
Nardocci N, Verga ML, Binelli S, Zorzi G, Angelini L, Bugiani O. Nardocci N, et al. Am J Med Genet. 1995 Jun 5;57(2):137-41. doi: 10.1002/ajmg.1320570205. Am J Med Genet. 1995. PMID: 7668317
We report on clinical, electrophysiological, neuroradiological, and morphological data from 19 patients with different types (late infantile, juvenile, and adult) of neuronal ceroid-lipofuscinosis (NCL), observed in the last 10 years at the Neurologica …
We report on clinical, electrophysiological, neuroradiological, and morphological data from 19 patients with different types (late infantile …
153 results