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Feick, Laura [Author]

HSP70 als potentielle Therapie bei der neuronalen Ceroidlipofuszinose 2

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Gießen: Universitätsbibliothek, 2020
Juchniewicz, Mateusz [Author]; Rzempała, Joanna [Author]; Skweres-Kuchta, Malgorzata [Author]

Initiating and defining a sustainable project on the example of rare disease therapy

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https://www.doi.org/10.35808/ersj/2377

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2021

Published in: European research studies ; 24(2021), 3, Seite 663-681
Czerska, Iwona [Author]; Skweres-Kuchta, Małgorzata [Author]

Integrative medicine as a new treatment model and the future of health care systems in the world in the context of rare diseases

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2021

Published in: European research studies ; 24(2021), 2B, Seite 800-809
Liersch, Julia [Author]

Zur Pathogenese der spätinfantilen neuronalen Ceroidlipofuszinose (CLN2) : Beeinflussung des Energiestoffwechsels und der Proliferation an einem zellulären Modell der CLN2-Krankheit

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http://www.sub.uni-hamburg.de/opus/volltexte/2007/3266/index.html

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Meyer, Kerstin [Author]

Mutationen im CLN-2-Gen bei Patienten mit spätinfantiler und atypischer neuronaler Ceroid-Lipofuszinose in Deutschland

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http://www.sub.uni-hamburg.de/opus/volltexte/2007/3260/index.html

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Norton, Melissa

Gene therapy for CLN2 disease

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American Association for the Advancement of Science (AAAS), 2020

Published in: Science
Löbbecke, Ina von

Physiotherapy for Children with CLN2 Disease

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FapUNIFESP (SciELO), 2019

Published in: Journal of Inborn Errors of Metabolism and Screening
Ribeiro, Erlane Marques; Rodrigues, Aline Campos Fontenele; Napoleão, Raffaela Neves Mont'Alverne; Teixeira, Mariana de Souza Rocha; Teixeira, Beatriz Esmeraldo; Freire, Ester Mara Rodrigues; de Gois, Rosicler Pereira; Mariano, Tamiris Carneiro; Pessoa, André Luiz Santos

Difficulties in treating CLN2 through enzyme replacement therapy

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Thieme Revinter Publicações Ltda., 2023

Published in: SBN Conference 2022
Kohlschütter, Alfried

Intrathecal enzyme replacement therapy for CLN2 disease

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Foundation for the Development of Bone Marrow Transplantation, 2019

Published in: Cellular Therapy and Transplantation
Schulz, Angela; Ajayi, Temitayo; Specchio, Nicola; de Los Reyes, Emily; Gissen, Paul; Ballon, Douglas; Dyke, Jonathan P.; Cahan, Heather; Slasor, Peter; Jacoby, David; Kohlschütter, Alfried

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

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Massachusetts Medical Society, 2018

Published in: New England Journal of Medicine
De, Bishnu P.; Rosenberg, Jonathan B.; Selvan, Nithya; Wilson, Isabelle; Yusufzai, Nadir; Greco, Alessandria; Kaminsky, Stephen M.; Heier, Linda A.; Ricart Arbona, Rodolfo J.; Miranda, Ileana C.; Monette, Sebastien; Nair, Anju; Khanna, Richie; Crystal, Ronald G.; Sondhi, Dolan

Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten Disease

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Mary Ann Liebert Inc, 2023

Published in: Human Gene Therapy
Ohyama, Yoshifumi; Kasahara, Koji; Kokubo, Tetsuro

Saccharomyces cerevisiae Ssd1p promotes CLN2 expression by binding to the 5′‐untranslated region of CLN2 mRNA

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Wiley, 2010

Published in: Genes to Cells
748. Impact of Age of Treatment on AAVrh.10hCLN2-Mediated Amelioration of Symptoms in CLN2 Knockout Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis

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Elsevier BV, 2007

Published in: Molecular Therapy
Kishi, Tsutomu; Yamao, Fumiaki

An essential function of Grr1 for the degradation of Cln2 is to act as a binding core that links Cln2 to Skp1

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The Company of Biologists, 1998

Published in: Journal of Cell Science
Wawrzynski, James; Martinez, Ana Rodriguez; Thompson, Dorothy Ann; Ram, Dipak; Bowman, Richard; Whiteley, Rebecca; Gan, Chin; Harding, Louise; Mortensen, Amanda; Mills, Philippa; Gissen, Paul; Henderson, Robert H.

First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy

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Springer Science and Business Media LLC, 2024

Published in: Eye
Fote, Gianna; Schafenacker, Amanda; Sherlock, Daniel C; So, Justin; Himstead, Alexander; Davies, Jordan; Pedroza, Sarah; Gornick, Wendi; Wang, Raymond; Olaya, Joffre; Arrieta, Antonio C; Singh, Jasjit

2438. Positive Cerebrospinal Fluid Cultures from Intraventricular Reservoirs for CLN2 Patients: One Institution's Experience

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Oxford University Press (OUP), 2023

Published in: Open Forum Infectious Diseases
Valadão, Mariana Braga; Gianetti, Juliana Gurgel; Azevedo, Beatriz Vilela Morais de; Barcelos, Yuri; Ribeiro, Laryssa da Silva; Moraes, Aline dos Passos

Atypical neuronal ceroid lipofuscinosis type 2 disease (CLN2): a case report

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Thieme Revinter Publicações Ltda., 2023

Published in: SBN Conference 2022
Sampaio, Leticia Pereira de Brito; Manreza, Maria Luiza Giraldes de; Pessoa, André; Gurgel-Giannetti, Juliana; Coan, Ana Carolina; Júnior, Hélio van der Linden; Embiruçu, Emília Katiane; Henriques-Souza, Adélia Maria de Miranda; Kok, Fernando

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

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Georg Thieme Verlag KG, 2023

Published in: Arquivos de Neuro-Psiquiatria
Nickel, Miriam; Gissen, Paul; Greenaway, Rebecca; Cappelletti, Simona; Hamborg, Christiane; Ragni, Benedetta; Ribitzki, Tanja; Schulz, Angela; Tondo, Ilaria; Specchio, Nicola

Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?

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Georg Thieme Verlag KG, 2023

Published in: Neuropediatrics
Knoernschild, Kevin; Johnson, Hans J.; Schroeder, Kimberly E.; Swier, Vicki J.; White, Katherine A.; Sato, Takashi S.; Rogers, Christopher S.; Weimer, Jill M.; Sieren, Jessica C.

Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model

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Springer Science and Business Media LLC, 2023

Published in: Scientific Reports

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