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Rare and hereditary disorders
Batten disease
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Publications and studies (974)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in AP3B1 and TRAPPC9. (2025/11/11) ♡
- Clofazimine Treatment Modulates Key Non-Coding RNAs Associated with Tumor Progression and Drug Resistance in Lethal Prostate Cancer. (2025/11/10) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Sex-specific and age-related progression of auditory neurophysiological deficits in the Cln3 mouse model of Batten disease. (2025/11/06) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets. (2025/11/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The first report of ceroid lipofuscinosis type 11 in China: a novel mutation of GRN and updated clinical review. (2025/11/01) ♡
- Assessment of motor deterioration in a cynomolgus macaque with neuronal ceroid lipofuscinosis type 2 disease using two behavioral analyses. (2025/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Chest-sited intraventricular access devices for cerliponase alfa infusion in Batten disease at a single tertiary United Kingdom pediatric center. (2025/10/31) ♡
- CLN7 protein functions at the interface between endolysosomes and stress granules to promote cell survival. (2025/10/31) ♡
- Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease. (2025/10/28) ♡
- Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses. (2025/10/15) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Is Miglustat an Effective Treatment for CLN3 (Batten) Disease? (2025/10/07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3. (2025/10/07) ♡
- CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease. (2025/10/01) ♡
- Glucosylsphingosine is a potential fluid-based biomarker of lysosomal dysfunction in Cln3(Δex7/8) mice. (2025/10/01) ♡
- AAV-delivered PPT1 provides long-term neurological benefits in CLN1 mice and achieves therapeutic levels in sheep brain. (2025/10/01) ♡
- Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. (2025/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Research priorities for the neuronal ceroid lipofuscinoses. (2025/10/01) ♡
- Palmitoyl-Protein Thioesterase 1 (PPT1) Protein, Linked to Neuronal Ceroid Lipofuscinosis 1, Is a Major Constituent of Ageing-Related Human Neuronal Lipofuscin. (2025/10/01) ♡
- Atlas of Lysosomal Aging Reveals a Molecular Clock of Storage Disorder-Associated Metabolites. (2025/09/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Buried Bumper Syndrome With Full Gastric Wall Penetration Managed With Delayed Replacement: A Conservative Approach. (2025/09/12) ♡
- Discovery of Functionalized 1H-Benzo[d]imidazoles That Confer Protective Effects in a Phenotypic CLN3 Disease Patient-Derived iPSC Model. (2025/09/11) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis. (2025/09/03) ♡
- Caudate serotonin signaling during social exchange distinguishes essential tremor and Parkinson's disease patients. (2025/09/02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Venous Thromboembolism Prophylaxis Practice Patterns, Outcomes, and Risk Stratification After Surgery for IBD: A National Surgical Quality Improvement Program IBD Collaborative Study. (2025/09/01) ♡
- Same-Day Approach for Combined Intravitreal and Intracerebroventricular Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2. (2025/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of CLN3 Disease on Child Quality of Life and Family Function. (2025/09/01) ♡
- CHIP protects lysosomes from CLN4 mutant-induced membrane damage. (2025/09/01) ♡
- Synergistic Angio-Osteogenic Effects of Copper-Releasing 3D Biocomposite Scaffolds: A Step Toward Vascularized Bone Regeneration. (2025/08/26) ♡
- Management of positive cerebrospinal fluid cultures from intraventricular reservoirs of neuronal ceroid lipofuscinosis type 2 patients: one institution's experience. (2025/08/22) ♡
- GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice. (2025/08/21) ♡
- Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip. (2025/08/19) ♡
- The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten disease. (2025/08/07) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Characterisation of sleep in a mouse model of CLN3 disease revealed sex-specific sleep disturbances. (2025/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Vacuolated lymphocytes: a diagnostic biomarker for CLN3-related Batten disease. (2025/08/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Gut-Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias. (2025/07/25) ♡
- Gene therapy ameliorates neuromuscular pathology in CLN3 disease. (2025/07/23) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Autosomal dominant Kufs disease in a Georgian adult woman: A case report. (2025/07/10) ♡
- CLN3 disease disrupts very early postnatal hippocampal maturation. (2025/07/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy. (2025/07/04) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Health-Related Quality of Life in Women With Metastatic Breast Cancer: An Integrative Review. (2025/07/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Syndromic retinitis pigmentosa. (2025/07/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. TPCs: FROM PLANT TO HUMAN. (2025/07/01) ♡
- Downregulation of AKT-mediated p27(Kip1) phosphorylation with shift to sphingomyelin synthesis in CLN3 disease. (2025/06/27) ♡
- UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression. (2025/06/18) ♡
- Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease. (2025/06/09) ♡
- Defective anterograde protein-trafficking contributes to endoplasmic reticulum-stress in a CLN1 disease model. (2025/06/01) ♡
- Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease. (2025/05/31) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Neuronal Ceroid Lipofuscinoses Overview. (2025/05/29) ♡
- Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale. (2025/05/28) ♡
- Neuronal lipofuscinosis caused by Kufs disease/CLN4 DNAJC5 mutations but not by a CSPα/DNAJC5 deficiency. (2025/05/23) ♡
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