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Quoted phrase not found in phrase index: "Neuronal ceroid lipofuscinosis 13"
Page 1
Therapeutic landscape for Batten disease: current treatments and future prospects.
Johnson TB, Cain JT, White KA, Ramirez-Montealegre D, Pearce DA, Weimer JM. Johnson TB, et al. Nat Rev Neurol. 2019 Mar;15(3):161-178. doi: 10.1038/s41582-019-0138-8. Nat Rev Neurol. 2019. PMID: 30783219 Free PMC article. Review.
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage disorders that collectively represent the most common inherited paediatric neurodegenerative disorders worldwide. Batten disease can result fro …
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage dis …
Altered protein secretion in Batten disease.
Huber RJ. Huber RJ. Dis Model Mech. 2021 Dec 1;14(12):dmm049152. doi: 10.1242/dmm.049152. Epub 2021 Dec 6. Dis Model Mech. 2021. PMID: 34870700 Free PMC article. Review.
The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases that affect all ages and ethnicities worldwide. There are 13 different subtypes of NCL, each caused by a mutation in a distinct gene. …
The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases t …
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.
Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, McKay TR, Medina DL, Rahim AA, Schulz A, Smith AJ. Mole SE, et al. Lancet Neurol. 2019 Jan;18(1):107-116. doi: 10.1016/S1474-4422(18)30368-5. Epub 2018 Nov 21. Lancet Neurol. 2019. PMID: 30470609 Review.
Diagnosis has improved with the use of comprehensive DNA-based tests that simultaneously screen for many genes. The identification of disease-causing mutations in 13 genes provides a basis for understanding the molecular mechanisms underlying neuronal ceroid …
Diagnosis has improved with the use of comprehensive DNA-based tests that simultaneously screen for many genes. The identification of diseas …
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, Hernández-Con L, Bogantes-Ledezma S, Balmaceda-Meza A, Brudvig J, Sanabria-Castro A. Badilla-Porras R, et al. Orphanet J Rare Dis. 2022 Jan 10;17(1):13. doi: 10.1186/s13023-021-02162-z. Orphanet J Rare Dis. 2022. PMID: 35012600 Free PMC article.
BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as l …
BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous …
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 …
Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers.
Beltrán L, Valenzuela GR, Loos M, Vargas R, Lizama R, Spinsanti P, Caraballo R. Beltrán L, et al. Epilepsy Res. 2018 Aug;144:49-52. doi: 10.1016/j.eplepsyres.2018.05.005. Epub 2018 May 16. Epilepsy Res. 2018. PMID: 29778029
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were re …
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantil …
Adult type of neuronal ceroid lipofuscinosis.
Martin JJ. Martin JJ. Dev Neurosci. 1991;13(4-5):331-8. doi: 10.1159/000112182. Dev Neurosci. 1991. PMID: 1817040 Review.
Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs' disease, is clinically distinct from the other NCLs. ...
Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs' disease, is clinically distinct from the other NCLs. ...
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
Cotman SL, Karaa A, Staropoli JF, Sims KB. Cotman SL, et al. Curr Neurol Neurosci Rep. 2013 Aug;13(8):366. doi: 10.1007/s11910-013-0366-z. Curr Neurol Neurosci Rep. 2013. PMID: 23775425 Free PMC article. Review.
Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refers to a group of disorders mostly diagnosed in the childhood years that involve the accumulation of lysosomal storage material with character …
Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refer …
Neuronal ceroid lipofuscinosis type 2: an Australian case series.
Johnson AM, Mandelstam S, Andrews I, Boysen K, Yaplito-Lee J, Fietz M, Nagarajan L, Rodriguez-Casero V, Ryan MM, Smith N, Scheffer IE, Ellaway C. Johnson AM, et al. J Paediatr Child Health. 2020 Aug;56(8):1210-1218. doi: 10.1111/jpc.14890. Epub 2020 Apr 24. J Paediatr Child Health. 2020. PMID: 32329550 Free PMC article.
AIM: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2-4 years with seizures and loss of motor and language skills, followed by blindness and death in late childhood. ...We a …
AIM: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presentin …
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.
Katz ML, Rustad E, Robinson GO, Whiting REH, Student JT, Coates JR, Narfstrom K. Katz ML, et al. Neurobiol Dis. 2017 Dec;108:277-287. doi: 10.1016/j.nbd.2017.08.017. Epub 2017 Aug 30. Neurobiol Dis. 2017. PMID: 28860089 Free PMC article. Review.
The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most forms having a childhood onset of clinical signs. The NCLs are characterized by progressive cognitive and motor decline, vision loss, seizure …
The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most f …
81 results