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ArticlesPeer ReviewedFull Text
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
Author / Creator:Miao, Pu ; Ding, Yao ; Cen, Zhidong ; Chen, Yulan ; Luo, Wei ; Zhang, Baorong ; Wu, Zhiying ; Ding, Meiping ; Wang, Shuang
Publisher:England: BioMed Central
Journal title:Acta epileptologica, 2025-05, Vol.7 (1), p.32
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Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs
Author / Creator:Lucchino, Valeria ; Scaramuzzino, Luana ; Scalise, Stefania ; Lo Conte, Michela ; Zannino, Clara ; Benedetto, Giorgia Lucia ; Aguglia, Umberto ; Ferlazzo, Edoardo ; Cuda, Giovanni ; Parrotta, Elvira Immacolata
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2022-11, Vol.11 (21), p.3491
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New neuropathological findings in Unverricht–Lundborg disease: neuronal intranuclear and cytoplasmic inclusions
Author / Creator:Cohen, Nicola R. ; Hammans, Simon R. ; Macpherson, James ; Nicoll, James A. R.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2011-03, Vol.121 (3), p.421-427
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Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy
Author / Creator:Matos, Liliana ; Duarte, Ana Joana ; Ribeiro, Diogo ; Chaves, João ; Amaral, Olga ; Alves, Sandra
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2018-09, Vol.9 (9), p.455
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ArticlesPeer ReviewedFull Text
Death in Unverricht–Lundborg disease
Author / Creator:Khiari, Hela Mrabet ; Franceschetti, Silvana ; Jovic, Nebojsa ; Mrabet, Amel ; Genton, Pierre
Publisher:Milan: Springer Milan
Journal title:Neurological sciences, 2009-08, Vol.30 (4), p.315-318
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ArticlesPeer ReviewedFull Text
A Native Haitian Woman with Unverricht-Lundborg Disease
Author / Creator:Mohamadpour, Maliheh ; Gabriel, Genevieve ; Grant, Arthur C.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Case reports in neurology, 2017-12, Vol.9 (3), p.284-288
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ArticlesPeer ReviewedFull Text
UNVERRICHT LUNDBORG DISEASE ASSOCIATED WITH SENSORINEURAL DEAFNESS IN A PATIENT OF INDIAN ORIGIN
Author / Creator:Akhtar, Nadeem ; Omer, Salah
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2013-11, Vol.84 (11), p.e2-e2
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Movement-related desynchronization-synchronization (ERD/ERS) in patients with Unverricht–Lundborg disease
Author / Creator:Visani, E. ; Agazzi, P. ; Canafoglia, L. ; Panzica, F. ; Ciano, C. ; Scaioli, V. ; Avanzini, G. ; Franceschetti, S.
Publisher:United States: Elsevier Inc
Journal title:NeuroImage (Orlando, Fla.), 2006-10, Vol.33 (1), p.161-168
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Book ChaptersFull Text
Unverricht-Lundborg Disease
Author / Creator:Verma, Mayank ; Minassian, Berge A. ; Andrade, Danielle M.
Publisher:CRC Press
Journal title:Handbook of Pediatric Epilepsy Case Studies, 2023, p.375-381
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ArticlesPeer ReviewedFull Text
Severer Phenotype in Unverricht-Lundborg Disease (EPM1) Patients Compound Heterozygous for the Dodecamer Repeat Expansion and the c.202C>T Mutation in the CSTB Gene
Author / Creator:Koskenkorva, Päivi ; Hyppönen, Jelena ; Äikiä, Marja ; Mervaala, Esa ; Kiviranta, Tuula ; Eriksson, Kai ; Lehesjoki, Anna-Elina ; Vanninen, Ritva ; Kälviäinen, Reetta
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Neuro-degenerative diseases, 2011-01, Vol.8 (6), p.515-522
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ArticlesPeer ReviewedFull Text
Abnormal ERD/ERS but Unaffected BOLD Response in Patients with Unverricht-Lundborg Disease During Index Extension: A Simultaneous EEG-fMRI Study
Author / Creator:Visani, E ; Minati, L ; Canafoglia, L ; Gilioli, I ; Granvillano, A ; Varotto, G ; Aquino, D ; Fazio, P ; Bruzzone, M. G ; Franceschetti, S ; Panzica, F
Publisher:Boston: Boston : Springer US
Journal title:Brain topography, 2011-03, Vol.24 (1), p.65-77
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ArticlesPeer ReviewedFull Text
Neuropathological Changes in a Mouse Model of Progressive Myoclonus Epilepsy: Cystatin B Deficiency and Unverricht-Lundborg Disease
Author / Creator:SHANNON, PATRICK ; PENNACCHIO, LEN A. ; HOUSEWEART, MEGAN K. ; MINASSIAN, BERGE A. ; MYERS, RICHARD M.
Publisher:Hagerstown, MD: American Association of Neuropathologists, Inc
Journal title:Journal of neuropathology and experimental neurology, 2002-12, Vol.61 (12), p.1085-1091
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ArticlesPeer ReviewedFull Text
Simultaneous EEG-fMRI in Patients with Unverricht-Lundborg Disease: Event-Related Desynchronization/Synchronization and Hemodynamic Response Analysis
Author / Creator:Aquino, Domenico ; Bruzzone, Maria Grazia ; Franceschetti, Silvana ; Panzica, Ferruccio ; Visani, Elisa ; Fazio, Patrik ; Varotto, Giulia ; Salvatoni, Lucia ; Minati, Ludovico ; Canafoglia, Laura ; Gilioli, Isabella
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:Computational Intelligence and Neuroscience, 2010, Vol.2010 (2010), p.12-16
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ArticlesPeer ReviewedFull Text
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
Author / Creator:Zimmern, Vincent ; Minassian, Berge
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-01, Vol.15 (2), p.171
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ArticlesPeer ReviewedFull Text
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration
Author / Creator:Espinós, Carmen ; Galindo, Máximo Ibo ; García-Gimeno, María Adelaida ; Ibáñez-Cabellos, José Santiago ; Martínez-Rubio, Dolores ; Millán, José María ; Rodrigo, Regina ; Sanz, Pascual ; Seco-Cervera, Marta ; Sevilla, Teresa ; Tapia, Andrea ; Pallardó, Federico V.
Publisher:Switzerland: MDPI AG
Journal title:Antioxidants, 2020-04, Vol.9 (4), p.313
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ArticlesPeer ReviewedFull Text
Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities
Author / Creator:Sanz, Pascual ; Serratosa, José M.
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Expert reviews in molecular medicine, 2020-01, Vol.22, p.e4-e4, Article e4
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Newsletter articlesFull Text
Findings from Department of Neurology Provides New Data about Unverricht-Lundborg Disease [Comorbidities In Patients With Unverricht-lundborg Disease (Epm1) Comment]
Publisher:NewsRX LLC
Journal title:Mental Health Weekly Digest, 2022, p.301
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ArticlesPeer ReviewedFull Text
The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1
Author / Creator:Singh, Shekhar ; Hämäläinen, Riikka H.
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2024-01, Vol.13 (2), p.170
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Newsletter articlesFull Text
University Magna Graecia Researchers Report Recent Findings in Unverricht-Lundborg Disease (Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Deri...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2022, p.7539
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ArticlesPeer ReviewedFull Text
Progressive myoclonic epilepsy
Author / Creator:Satishchandra, P ; Sinha, S
Publisher:India: Medknow Publications on behalf of the Neurological Society of India
Journal title:Neurology India, 2010-07, Vol.58 (4), p.514-522
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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

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Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs

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New neuropathological findings in Unverricht–Lundborg disease: neuronal intranuclear and cytoplasmic inclusions

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Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy

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Death in Unverricht–Lundborg disease

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A Native Haitian Woman with Unverricht-Lundborg Disease

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UNVERRICHT LUNDBORG DISEASE ASSOCIATED WITH SENSORINEURAL DEAFNESS IN A PATIENT OF INDIAN ORIGIN

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Movement-related desynchronization-synchronization (ERD/ERS) in patients with Unverricht–Lundborg disease

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Unverricht-Lundborg Disease

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Severer Phenotype in Unverricht-Lundborg Disease (EPM1) Patients Compound Heterozygous for the Dodecamer Repeat Expansion and the c.202C>T Mutation in the CSTB Gene

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Abnormal ERD/ERS but Unaffected BOLD Response in Patients with Unverricht-Lundborg Disease During Index Extension: A Simultaneous EEG-fMRI Study

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Neuropathological Changes in a Mouse Model of Progressive Myoclonus Epilepsy: Cystatin B Deficiency and Unverricht-Lundborg Disease

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Simultaneous EEG-fMRI in Patients with Unverricht-Lundborg Disease: Event-Related Desynchronization/Synchronization and Hemodynamic Response Analysis

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Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

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Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration

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Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities

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Findings from Department of Neurology Provides New Data about Unverricht-Lundborg Disease [Comorbidities In Patients With Unverricht-lundborg Disease (Epm1) Comment]

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The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1

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University Magna Graecia Researchers Report Recent Findings in Unverricht-Lundborg Disease (Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Deri...

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Progressive myoclonic epilepsy

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