Pages that link to "Q36053005"
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The following pages link to Genetics of the neuronal ceroid lipofuscinoses (Batten disease). (Q36053005):
Displaying 50 items.
- Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis (Q28071411) (← links)
- Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression (Q30846558) (← links)
- A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies. (Q33626697) (← links)
- Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses (Q33754927) (← links)
- Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders (Q33808609) (← links)
- Induced pluripotent stem cell models of lysosomal storage disorders (Q33830512) (← links)
- Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs). (Q35840603) (← links)
- Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. (Q36109195) (← links)
- Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease). (Q37004315) (← links)
- Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause? (Q37049279) (← links)
- Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease (Q37119594) (← links)
- Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies (Q37375544) (← links)
- Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model. (Q37691503) (← links)
- Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs). (Q38737126) (← links)
- Neuroinflammation as modifier of genetically caused neurological disorders of the central nervous system: Understanding pathogenesis and chances for treatment. (Q38751654) (← links)
- MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis (Q38808353) (← links)
- Inherited diseases caused by mutations in cathepsin protease genes. (Q39031727) (← links)
- NCLs and ER: A stressful relationship. (Q39229073) (← links)
- Sialoadhesin promotes neuroinflammation-related disease progression in two mouse models of CLN disease. (Q40099475) (← links)
- Aberrant adhesion impacts early development in a Dictyostelium model for juvenile neuronal ceroid lipofuscinosis (Q41510250) (← links)
- Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration (Q41643417) (← links)
- Loss of Cln5 causes altered neurogenesis in a mouse model of a childhood neurodegenerative disorder. (Q41664817) (← links)
- Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis (Q42328379) (← links)
- GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. (Q42358915) (← links)
- A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases (Q42370349) (← links)
- The clinical implications of molecular monitoring and analyses of inherited retinal diseases (Q45872446) (← links)
- An EEG Investigation of Sleep Homeostasis in Healthy and CLN5 Batten Disease Affected Sheep. (Q46506577) (← links)
- Dysregulation of autophagy as a common mechanism in lysosomal storage diseases. (Q47321665) (← links)
- Emptying the stores: lysosomal diseases and therapeutic strategies (Q47393679) (← links)
- Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions (Q47786937) (← links)
- Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis (Q48465441) (← links)
- Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis (Q48556089) (← links)
- Aminode: Identification of Evolutionary Constraints in the Human Proteome (Q49604806) (← links)
- Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants. (Q50109345) (← links)
- Fingolimod and Teriflunomide Attenuate Neurodegeneration in Mouse Models of Neuronal Ceroid Lipofuscinosis. (Q50437981) (← links)
- Workshop Proceedings: Streamlined Development of Safety Assessment Programs Supporting Orphan/Rare Diseases-Are We There Yet? (Q50506337) (← links)
- Myocardial Upregulation of Cathepsin D by Ischemic Heart Disease Promotes Autophagic Flux and Protects Against Cardiac Remodeling and Heart Failure (Q50898615) (← links)
- Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease. (Q54942202) (← links)
- The lysosomal function of progranulin, a guardian against neurodegeneration (Q56594618) (← links)
- A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report (Q57052791) (← links)
- KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect (Q57180375) (← links)
- Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia (Q58085842) (← links)
- CLN8 safeguards lysosome biogenesis (Q58611439) (← links)
- Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage (Q58762327) (← links)
- Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis (Q58796355) (← links)
- Searching for novel biomarkers using a mouse model of CLN3-Batten disease (Q58797972) (← links)
- Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients (Q60045367) (← links)
- Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses (Q61447796) (← links)
- Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters (Q61799229) (← links)
- Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients (Q63979764) (← links)