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About 510 results

ALLMedicine™ Neuronal Ceroid Lipofuscinoses Center

Research & Reviews  255 results

Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates fo...
https://doi.org/10.1002/jms.4675
Journal of Mass Spectrometry : JMS REFERENCES; Maeser S, Petre BA et. al.

Dec 14th, 2020 - Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative diseases predominantly in childhood that are characterized by psychomotor deterioration, epilepsy, and early death of patients. The NCLs analyzed in the present study are cause...

Sex- and region-biased depletion of microglia/macrophages attenuates CLN1 disease in mice.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7594417
Journal of Neuroinflammation; Berve K, West BL et. al.

Oct 29th, 2020 - The neuronal ceroid lipofuscinoses (CLN diseases) are fatal lysosomal storage diseases causing neurodegeneration in the CNS. We have previously shown that neuroinflammation comprising innate and adaptive immune reactions drives axonal damage and n...

Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661073
AJNR. American Journal of Neuroradiology; Biswas A, Krishnan P et. al.

Aug 28th, 2020 - Neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigments in neuronal cells. As a result of storage material in the brain and retina, clinical manifestations include...

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7899141
Clinical Genetics; Naseri N, Sharma M et. al.

Aug 12th, 2020 - The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive neurodegenerative disorders unified by the accumulation of lysosomal auto-fluorescent material called lipofuscin. The only form that occurs via autosomal-dominant inher...

Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7404834
Human Gene Therapy; Kleine Holthaus SM, Aristorena M et. al.

Jun 24th, 2020 - The neuronal ceroid lipofuscinoses (NCLs), often referred to as Batten disease, are inherited lysosomal storage disorders that represent the most common neurodegeneration during childhood. Symptoms include seizures, vision loss, motor and cognitiv...

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Clinicaltrials.gov  255 results

Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates fo...
https://doi.org/10.1002/jms.4675
Journal of Mass Spectrometry : JMS REFERENCES; Maeser S, Petre BA et. al.

Dec 14th, 2020 - Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative diseases predominantly in childhood that are characterized by psychomotor deterioration, epilepsy, and early death of patients. The NCLs analyzed in the present study are cause...

Sex- and region-biased depletion of microglia/macrophages attenuates CLN1 disease in mice.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7594417
Journal of Neuroinflammation; Berve K, West BL et. al.

Oct 29th, 2020 - The neuronal ceroid lipofuscinoses (CLN diseases) are fatal lysosomal storage diseases causing neurodegeneration in the CNS. We have previously shown that neuroinflammation comprising innate and adaptive immune reactions drives axonal damage and n...

Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661073
AJNR. American Journal of Neuroradiology; Biswas A, Krishnan P et. al.

Aug 28th, 2020 - Neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigments in neuronal cells. As a result of storage material in the brain and retina, clinical manifestations include...

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7899141
Clinical Genetics; Naseri N, Sharma M et. al.

Aug 12th, 2020 - The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive neurodegenerative disorders unified by the accumulation of lysosomal auto-fluorescent material called lipofuscin. The only form that occurs via autosomal-dominant inher...

Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7404834
Human Gene Therapy; Kleine Holthaus SM, Aristorena M et. al.

Jun 24th, 2020 - The neuronal ceroid lipofuscinoses (NCLs), often referred to as Batten disease, are inherited lysosomal storage disorders that represent the most common neurodegeneration during childhood. Symptoms include seizures, vision loss, motor and cognitiv...

see more →