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- Brandner, Sebastian
- Xiromerisiou, Georgia
- Wiethoff, Sarah
- Schottlaender, Lucia
- Proukakis, Christos
- Morris, Huw
- Warner, Tom
- Bhatia, Kailash P
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- Hardy, John
- Wood, Nicholas W
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Producer: 20170510
In:
Brain : a journal of neurology vol. 139
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Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs. [electronic resource] by
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- Caputo, Viviana
- La Torraca, Ilaria
- Piemonte, Fiorella
- Ciolfi, Andrea
- Petrucci, Simona
- Carta, Claudio
- Mariotti, Paolo
- Leuzzi, Vincenzo
- Valente, Enza Maria
- D'Amico, Adele
- Bentivoglio, Annarita
- Bertini, Enrico
- Tartaglia, Marco
- Zampino, Giuseppe
Producer: 20160617
In:
Journal of the neurological sciences vol. 356
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Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients. [electronic resource] by
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- Kamate, Mahesh
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- Kabra, Madhulika
- Mehta, Sanjiv
- Nampoothiri, Sheela
- Thakker, Arpita
- Jain, Vivek
- Shah, Raju
- Sheth, Frenny
Producer: 20190114
In:
BMC neurology vol. 18
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A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. [electronic resource] by
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- Hao, Zhuo-Fang
- Shi, Yi-Wu
- Tang, Bin
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- Gao, Mei-Mei
- Di, Wei
- Long, Yue-Sheng
- Yi, Yong-Hong
- Liao, Wei-Ping
Producer: 20110506
In:
Neurogenetics vol. 12
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Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity. [electronic resource] by
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- Zimmerman, Carla
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- Strynadka, Natalie C
- Bally, Marcel B
- Roberge, Michel
Producer: 20180709
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 114
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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. [electronic resource] by
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- Dvorakova, Lenka
- Vlaskova, Hana
- Turnbull, Julie
- Topcu, Meral
- Yuksel, Deniz
- Gokben, Sarenur
- Minassian, Berge A
- Elleder, Milan
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- Lehesjoki, Anna-Elina
Producer: 20090527
In:
Brain : a journal of neurology vol. 132
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- Keulemans, J L
- Losekoot, M
- Garritsen, V H
- Stroink, H
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- Franken, P F
- Eurlings, M C
- Taschner, P E
- Los, F J
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In:
Prenatal diagnosis vol. 21
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