Congenital ceroid-lipofuscinosis

Form of dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A nonphosphorylated at tyrosine 145 and 147 is enriched in the nuclei of astroglial cells, adult hippocampal progenitors, and some cholinergic axon terminals.

Neuroscience·2011

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice.

Proceedings of the National Academy of Sciences of the United States of America·2001

Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2001

CLN3 disease process: missense point mutations and protein depletion in vitro.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2001

Impaired temporo-occipital blood flow in an atypical CLN1 case with late infantile onset and granular osmiophilic deposits.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2001

Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2001

Autonomic-Related Symptoms and Their Link to Autonomic Function and Post-concussion Symptoms in Youth Post-concussion.

Pediatric neurology·2026

Continuous Electroencephalographic Characterization of Late Seizures in Traumatic Brain Injury With a Biphasic Clinical Course and Late Reduced Diffusion: A Case Series.

Pediatric neurology·2026

Clinical Utility and Measurement Properties of Balance Measures in Duchenne Muscular Dystrophy: A Scoping Review.

Pediatric neurology·2026

The Effect of Inspiratory Muscle Training on Respiratory Parameters, Trunk Control, Gait, and Functional Independence in Children With Cerebral Palsy: A Randomized Controlled Trial.

Pediatric neurology·2026

Pediatric Ataxia and Emerging Treatments.

Pediatric neurology·2026

Autoimmune Encephalitis in Children: Differential Characteristics and Treatment Responses in Definite and Probable Anti-N-Methyl-D-Aspartate Receptor Encephalitis.

Pediatric neurology·2026

Volar Carpometacarpal Dislocation Associated with Fracture of the Second, Third, and Fourth Metacarpal Bases Treated by Closed Reduction and Percutaneous Fixation: A Case Report.

Journal of orthopaedic case reports·2026

Case Report: Giant esophageal duplication cyst mimicking cardiac compression in an adult.

Frontiers in medicine·2026

Chitosan Stabilizes Curcumin against Hydrolysis and Potentiates Antimicrobial Activity against Pseudomonas aeruginosa in a pH-Dependent Manner.

ACS omega·2026

Isolated Calcific Deposition in the Subacromial Bursa: A Rare Case Report and Arthroscopic Management.

Journal of orthopaedic case reports·2026

Gelation dynamics of charged colloidal rods: critical behaviour and time-connectivity superposition principle.

Soft matter·2026

Multi-step binding-unbinding pathways govern properties of biomolecular condensates.

Biophysical journal·2026

Related Experiment Videos

Congenital ceroid-lipofuscinosis

Related Concept Videos

Form of dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A nonphosphorylated at tyrosine 145 and 147 is enriched in the nuclei of astroglial cells, adult hippocampal progenitors, and some cholinergic axon terminals.

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice.

Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease.

CLN3 disease process: missense point mutations and protein depletion in vitro.

Impaired temporo-occipital blood flow in an atypical CLN1 case with late infantile onset and granular osmiophilic deposits.

Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.

Autonomic-Related Symptoms and Their Link to Autonomic Function and Post-concussion Symptoms in Youth Post-concussion.

Continuous Electroencephalographic Characterization of Late Seizures in Traumatic Brain Injury With a Biphasic Clinical Course and Late Reduced Diffusion: A Case Series.

Clinical Utility and Measurement Properties of Balance Measures in Duchenne Muscular Dystrophy: A Scoping Review.

The Effect of Inspiratory Muscle Training on Respiratory Parameters, Trunk Control, Gait, and Functional Independence in Children With Cerebral Palsy: A Randomized Controlled Trial.

Pediatric Ataxia and Emerging Treatments.

Autoimmune Encephalitis in Children: Differential Characteristics and Treatment Responses in Definite and Probable Anti-N-Methyl-D-Aspartate Receptor Encephalitis.

Volar Carpometacarpal Dislocation Associated with Fracture of the Second, Third, and Fourth Metacarpal Bases Treated by Closed Reduction and Percutaneous Fixation: A Case Report.

Case Report: Giant esophageal duplication cyst mimicking cardiac compression in an adult.

Chitosan Stabilizes Curcumin against Hydrolysis and Potentiates Antimicrobial Activity against Pseudomonas aeruginosa in a pH-Dependent Manner.

Isolated Calcific Deposition in the Subacromial Bursa: A Rare Case Report and Arthroscopic Management.

Gelation dynamics of charged colloidal rods: critical behaviour and time-connectivity superposition principle.

Multi-step binding-unbinding pathways govern properties of biomolecular condensates.

Related Experiment Videos

Congenital ceroid-lipofuscinosis

Related Concept Videos

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