Research & Literature

A consensus review on the development of palliative care for patients with chronic and progressive neurological disease.

Oliver DJ, Borasio GD, Caraceni A, et al.

European journal of neurology 2016; (23(1)):30-8 doi:10.1111/ene.12889.

Embelin binds to human neuroserpin and impairs its polymerisation.

Saga G, Sessa F, Barbiroli A, et al.

Scientific reports 2016; (6()):18769 doi:10.1038/srep18769.

Limited Unfolded Protein Response and Inflammation in Neuroserpinopathy.

López-González I, Pérez-Mediavilla A, Zamarbide M, et al.

Journal of neuropathology and experimental neurology 2016; (75(2)):121-33 doi:10.1093/jnen/nlv011.

Evidence-Based Guideline: Treatment of Convulsive Status Epilepticus in Children and Adults: Report of the Guideline Committee of the American Epilepsy Society.

Glauser T, Shinnar S, Gloss D, et al.

Epilepsy currents 2016; (16(1)):48-61 doi:10.5698/1535-7597-16.1.48.

Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis).

Roussel BD, Lomas DA, Crowther DC

Epileptic disorders : international epilepsy journal with videotape 2016; (18(S2)):103-110 doi:10.1684/epd.2016.0847.

Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials.

Michelucci R, Pasini E, Riguzzi P, et al.

Epileptic disorders : international epilepsy journal with videotape 2016; (18(S2)):145-153 doi:10.1684/epd.2016.0861.

Effect of the Goals of Care Intervention for Advanced Dementia: A Randomized Clinical Trial.

Hanson LC, Zimmerman S, Song MK, et al.

JAMA internal medicine 2017; (177(1)):24-31 doi:10.1001/jamainternmed.2016.7031.

The influence of day care centres designed for people with dementia on family caregivers - a qualitative study.

Tretteteig S, Vatne S, Rokstad AM

BMC geriatrics 2017; (17(1)):5 doi:10.1186/s12877-016-0403-2.

Neuroserpin polymers cause oxidative stress in a neuronal model of the dementia FENIB.

Guadagno NA, Moriconi C, Licursi V, et al.

Neurobiology of disease 2017; (103()):32-44 doi:10.1016/j.nbd.2017.03.010.

Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.

Casciato S, Gambardella S, Mascia A, et al.

The International journal of neuroscience 2017; (127(12)):1150-1153 doi:10.1080/00207454.2017.1337012.

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.

Specchio N, Bellusci M, Pietrafusa N, et al.

Epilepsia 2017; (58(8)):1380-1388 doi:10.1111/epi.13820.

Acute Systemic Complications of Convulsive Status Epilepticus-A Systematic Review.

Sutter R, Dittrich T, Semmlack S, et al.

Critical care medicine 2018; (46(1)):138-145 doi:10.1097/CCM.0000000000002843.

Individualized support for informal caregivers of people with dementia - effectiveness of the German adaptation of REACH II.

Berwig M, Heinrich S, Spahlholz J, et al.

BMC geriatrics 2017; (17(1)):286 doi:10.1186/s12877-017-0678-y.

Management of prolonged epileptic seizures and status epilepticus in palliative care patients.

Kälviäinen R, Reinikainen M

Epilepsy & behavior : E&B 2019; (101(Pt B)):106288 doi:10.1016/j.yebeh.2019.04.041.

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Jilani A, Matviychuk D, Blaser S, et al.

JIMD reports 2019; (50(1)):20-30 doi:10.1002/jmd2.12057.

Neuronal intranuclear inclusion disease presenting with dysphagia: a report of three cases.

Aoyagi Y, Taya M, Ohashi M, Saitoh E

Neurocase 2020; (26(4)):252-257 doi:10.1080/13554794.2020.1788607.

Shifting Tides Toward a Proactive Patient-Centered Approach in Dysphagia Management of Neurodegenerative Disease.

Rogus-Pulia NM, Plowman EK

American journal of speech-language pathology 2020; (29(2S)):1094-1109 doi:10.1044/2020_AJSLP-19-00136.

The Trajectory of Caregiver Burden and Risk Factors in Dementia Progression: A Systematic Review.

van den Kieboom R, Snaphaan L, Mark R, Bongers I

Journal of Alzheimer's disease : JAD 2020; (77(3)):1107-1115 doi:10.3233/JAD-200647.

Unverricht-Lundborg disease (EPM1) in Finland: A nationwide population-based study.

Sipilä JOT, Hyppönen J, Kytö V, Kälviäinen R

Neurology 2020; (95(23)):e3117-e3123 doi:10.1212/WNL.0000000000010911.

The improvement in diagnosis and epilepsy managing in children with progressive myoclonus epilepsy during the last decade - A tertiary center experience in cohort of 51 patients.

Kravljanac R, Vucetic Tadic B, Djordjevic M, et al.

Epilepsy & behavior : E&B 2020; (113()):107456 doi:10.1016/j.yebeh.2020.107456.

A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy.

Kimiloğlu E, Akbaş P, Öre ÖE, Turan Ç

Turk patoloji dergisi 2021; (37(3)):264-265 doi:10.5146/tjpath.2021.01522.

Diagnosis and Treatment of Status Epilepticus.

Lee SK

Journal of epilepsy research 2020; (10(2)):45-54 doi:10.14581/jer.20008.

G392E neuroserpin causing the dementia FENIB is secreted from cells but is not synaptotoxic.

Ingwersen T, Linnenberg C, D'Acunto E, et al.

Scientific reports 2021; (11(1)):8766 doi:10.1038/s41598-021-88090-1.

Comparison of on Site versus Online Psycho Education Groups and Reducing Caregiver Burden.

Karagiozi K, Margaritidou P, Tsatali M, et al.

Clinical gerontologist 2022; (45(5)):1330-1340 doi:10.1080/07317115.2021.1940409.

Neuroserpin Inclusion Bodies in a FENIB Yeast Model.

Vapore V, Mazzaglia C, Sibilia D, et al.

Microorganisms 2021; (9(7)) doi:10.3390/microorganisms9071498.

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.

Canafoglia L, Franceschetti S, Gambardella A, et al.

Neurology. Genetics 2021; (7(6)):e641 doi:10.1212/NXG.0000000000000641.

Neurogenic Dysphagia and Nutrition in Disorder of Consciousness: An Overview with Practical Advices on an "Old" but Still Actual Clinical Problem.

Raciti L, Raciti G, Pulejo G, et al.

Medicines (Basel, Switzerland) 2022; (9(2)) doi:10.3390/medicines9020016.

Comparative efficacy of 11 non-pharmacological interventions on depression, anxiety, quality of life, and caregiver burden for informal caregivers of people with dementia: A systematic review and network meta-analysis.

Sun Y, Ji M, Leng M, et al.

International journal of nursing studies 2022; (129()):104204 doi:10.1016/j.ijnurstu.2022.104204.

Caregiver Burden and Dementia: A Systematic Review of Self-Report Instruments.

Tu JY, Jin G, Chen JH, Chen YC

Journal of Alzheimer's disease : JAD 2022; (86(4)):1527-1543 doi:10.3233/JAD-215082.

A qualitative study with people with young-onset dementia and their family caregivers on advance care planning: A holistic, flexible, and relational approach is recommended.

Van Rickstal R, Vleminck A, Engelborghs S, et al.

Palliative medicine 2022; (36(6)):964-975 doi:10.1177/02692163221090385.

Polymerogenic neuroserpin causes mitochondrial alterations and activates NFκB but not the UPR in a neuronal model of neurodegeneration FENIB.

D'Acunto E, Gianfrancesco L, Serangeli I, et al.

Cellular and molecular life sciences : CMLS 2022; (79(8)):437 doi:10.1007/s00018-022-04463-3.

Advance care planning in neurologic illness.

Macchi ZA, Lum HD

Handbook of clinical neurology 2022; (190()):129-148 doi:10.1016/B978-0-323-85029-2.00004-X.

Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.

Yang X, Fang Z, Yan L, et al.

Seizure 2022; (103()):137-147 doi:10.1016/j.seizure.2022.11.008.

Palliative care principles in ALS.

Shoesmith C

Handbook of clinical neurology 2023; (191()):139-155 doi:10.1016/B978-0-12-824535-4.00007-0.

Palliative Care in Amyotrophic Lateral Sclerosis.

Mercadante S, Al-Husinat L

Journal of pain and symptom management 2023; (66(4)):e485-e499 doi:10.1016/j.jpainsymman.2023.06.029.

Nonconvulsive Status Epilepticus: A Review for Emergency Clinicians.

Long B, Koyfman A

The Journal of emergency medicine 2023; (65(4)):e259-e271 doi:10.1016/j.jemermed.2023.05.012.

Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report.

Handa H, Sugiyama A, Kaname T, et al.

BMC neurology 2024; (24(1)):9 doi:10.1186/s12883-023-03511-0.

Palliative Care in Nursing Home Residents with Young-Onset Dementia: Professional and Family Caregiver Perspectives.

Maters J, van der Steen JT, de Vugt ME, et al.

Journal of Alzheimer's disease : JAD 2024; (97(2)):573-586 doi:10.3233/JAD-230486.

Modeling and Correction of Protein Conformational Disease in iPSC-derived Neurons through Personalized Base Editing.

Konishi CT, Mulaiese N, Butola T, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.01.17.576134.

Clinical features of neuronal intranuclear inclusion disease with seizures: a systematic literature review.

Zhang J, Ling L, Xiang L, et al.

Frontiers in neurology 2024; (15()):1387399 doi:10.3389/fneur.2024.1387399.

A Systematic Review of Palliative Care Needs in Young-Onset Dementia.

Dang J, Yong ACW, Fong ZH, et al.

Journal of the American Medical Directors Association 2024; (25(10)):105219 doi:10.1016/j.jamda.2024.105219.

Familial adult-onset neuronal intranuclear inclusion disease: A case report and literature review.

Wei L, Wang J, Xu C, et al.

Medicine 2024; (103(44)):e40279 doi:10.1097/MD.0000000000040279.

Epidemiology and Pathogenesis of Aspiration Pneumonia.

Almirall J, Boixeda R, de la Torre MC, Torres A

Seminars in respiratory and critical care medicine 2024; (45(6)):621-625 doi:10.1055/s-0044-1793907.

[Pneumonia due to silent aspiration: a diagnostic and therapeutic challenge].

Ewig S, Gatermann S, Wiesweg K

Pneumologie (Stuttgart, Germany) 2025; (79(7)):501-512 doi:10.1055/a-2486-6598.

An Inducible Neural Stem Progenitor Cell Model for Testing Therapeutic Interventions Against Neurodegeneration FENIB.

Giustini A, Maiocchi A, Serangeli I, et al.

Drug development research 2025; (86(1)):e70041 doi:10.1002/ddr.70041.

Modeling and correction of protein conformational disease in iPSC-derived neurons through personalized base editing.

Konishi CT, Mulaiese N, Butola T, et al.

Molecular therapy. Nucleic acids 2025; (36(1)):102441 doi:10.1016/j.omtn.2024.102441.

Treatment of convulsive status epilepticus in Brazil: a review.

Caboclo LO

Arquivos de neuro-psiquiatria 2025; (83(1)):1-10 doi:10.1055/s-0045-1801872.

Optimizing Advance Care Planning in Dementia: Recommendations From a 33-Country Delphi Study.

van der Steen JT, Van den Block L, Nakanishi M, et al.

Journal of pain and symptom management 2025; (69(6)):e755-e772 doi:10.1016/j.jpainsymman.2025.02.471.

Advance care planning and quality of life: A qualitative interview study in people with young-onset dementia and their family caregivers.

Maters J, Perry M, de Wit T, et al.

Palliative medicine 2025; (39(5)):563-573 doi:10.1177/02692163251324796.

A novel c.116 - 117 del variant in Unverricht-Lundborg disease: first ULD report in large Chinese population and review of the pathogenetic variants in CSTB gene.

Miao P, Ding Y, Cen Z, et al.

Acta epileptologica 2025; (7(1)):32 doi:10.1186/s42494-025-00216-4.

Effectiveness of dementia literacy interventions for caregivers of people with dementia: A meta-analysis of randomized controlled trials.

Widiyaningsih , Pradana AA, Susanto H, Chiu HL

International journal of nursing studies 2025; (171()):105191 doi:10.1016/j.ijnurstu.2025.105191.

[A case of neuronal intranuclear inclusion disease with coexisting Alzheimer's disease biomarker signature in cerebrospinal fluid].

Ono N, Maruyama G, Akaiwa Y, et al.

Rinsho shinkeigaku = Clinical neurology 2025; (65(12)):912-915 doi:10.5692/clinicalneurol.cn-002153.

Structural targeting of a familial variant of neuroserpin (Ser52Arg) by epigallocatechin gallate binding that reduces polymerization and enhances the tissue plasminogen activator inhibition.

Ahmad T, Zaidi FK, Siddiqui U, et al.

Biochimica et biophysica acta. Proteins and proteomics 2026; (1874(4)):141140 doi:10.1016/j.bbapap.2026.141140.

Effectiveness and cost-related outcomes of respite care models for people with functional disability and dementia and their caregivers: a systematic review.

Liu M, Yang Y, Chen Y, et al.

The Gerontologist 2026; (66(9)) doi:10.1093/geront/gnag174.

Clinical and nursing correlates of severity among chronically ill adults with aspiration pneumonia in Saudi Arabia: A retrospective cross-sectional study.

Hassan EMG, Britiller MC, Ali MD, et al.

Belitung nursing journal 2026; (12(4)):498-508 doi:10.33546/bnj.4611.