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Quoted phrase not found in phrase index: "Neuronal ceroid lipofuscinosis 13"
Page 1
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. ...Aberrant protein secretion has also been observed in mammalian models of NCL, which has al …
The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases t …
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 …
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R, Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R, Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M. Pérez-Poyato MS, et al. J Inherit Metab Dis. 2011 Oct;34(5):1083-93. doi: 10.1007/s10545-011-9323-7. Epub 2011 Apr 16. J Inherit Metab Dis. 2011. PMID: 21499717
BACKGROUND: Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. ...Patients with vJNCL showed a more severe and progressive clinical course than those with cJNCL. There may be a …
BACKGROUND: Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletio …
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. ...
OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most com …
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
Kozina AA, Okuneva EG, Baryshnikova NV, Kondakova OB, Nikolaeva EA, Fedoniuk ID, Mikhailova SV, Krasnenko AY, Stetsenko IF, Plotnikov NA, Klimchuk OI, Popov YV, Surkova EI, Shatalov PA, Rakitko AS, Ilinsky VV. Kozina AA, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1228. doi: 10.1002/mgg3.1228. Epub 2020 May 15. Mol Genet Genomic Med. 2020. PMID: 32412666 Free PMC article.
BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues. ...CONCLUSION: Our study expands the spectrum of mutations in lipofuscinosis. This is the …
BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumu …
Editorial commentary on "Gait phenotype in Batten disease: A marker of disease progression".
Abreu NJ, de Los Reyes EC. Abreu NJ, et al. Eur J Paediatr Neurol. 2021 Nov;35:A2. doi: 10.1016/j.ejpn.2021.11.007. Epub 2021 Nov 17. Eur J Paediatr Neurol. 2021. PMID: 34844861
Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a diverse group of 13 hereditary inborn errors of metabolism resulting in the abnormal accumulation of autofluorescent storage material in lysosomes leading to neurodegeneration, typicall …
Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a diverse group of 13 hereditary inborn errors …
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
Miller JN, Chan CH, Pearce DA. Miller JN, et al. Hum Mol Genet. 2013 Jul 1;22(13):2723-34. doi: 10.1093/hmg/ddt120. Epub 2013 Mar 28. Hum Mol Genet. 2013. PMID: 23539563 Free PMC article.
Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurodegenerative diseases of childhood characterized by seizures, blindness, motor and cognitive decline and premature death. ...A large portion o …
Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurode …
Timing of cognitive decline in CLN3 disease.
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM. Kuper WFE, et al. J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1. J Inherit Metab Dis. 2018. PMID: 29392585 Free PMC article.
RESULTS: Onset of cognitive decline at a mean age of 6.8 years (range 2-13 years, n = 19) paralleled onset of visual deterioration at a mean age of 6.4 years (range 4-9 years, n = 81) as supported by an early decline in IQ scores in classical CLN3 disease. Onset and course …
RESULTS: Onset of cognitive decline at a mean age of 6.8 years (range 2-13 years, n = 19) paralleled onset of visual deterioration at a mean …
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
Wibbeler E, Wang R, Reyes EL, Specchio N, Gissen P, Guelbert N, Nickel M, Schwering C, Lehwald L, Trivisano M, Lee L, Amato G, Cohen-Pfeffer J, Shediac R, Leal-Pardinas F, Schulz A. Wibbeler E, et al. J Child Neurol. 2021 May;36(6):468-474. doi: 10.1177/0883073820977997. Epub 2020 Dec 23. J Child Neurol. 2021. PMID: 33356800 Free PMC article.
BACKGROUND: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor d …
BACKGROUND: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between a …
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.
Levin SW, Baker EH, Zein WM, Zhang Z, Quezado ZM, Miao N, Gropman A, Griffin KJ, Bianconi S, Chandra G, Khan OI, Caruso RC, Liu A, Mukherjee AB. Levin SW, et al. Lancet Neurol. 2014 Aug;13(8):777-87. doi: 10.1016/S1474-4422(14)70142-5. Epub 2014 Jul 2. Lancet Neurol. 2014. PMID: 24997880 Free PMC article. Clinical Trial.
We aimed to assess whether combination of oral cysteamine bitartrate and N-acetylcysteine is beneficial for patients with neuronal ceroid lipofuscinosis. METHODS: Children between 6 months and 3 years of age with infantile neuronal ceroid lip …
We aimed to assess whether combination of oral cysteamine bitartrate and N-acetylcysteine is beneficial for patients with neuronal …
41 results