Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene

2014 ◽  
Vol 57 (11-12) ◽  
pp. 607-612 ◽  
Author(s):  
Hanna Mandel ◽  
Ksenya Cohen Katsanelson ◽  
Morad Khayat ◽  
Ilana Chervinsky ◽  
Eugene Vladovski ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Novel Mutation ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
Mfsd8 Gene

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

Neurogenetics ◽  
2008 ◽  
Vol 10 (1) ◽  
pp. 73-77 ◽  
Author(s):  
E. Stogmann ◽  
S. El Tawil ◽  
J. Wagenstaller ◽  
A. Gaber ◽  
S. Edris ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Novel Mutation ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
Mfsd8 Gene

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

2016 ◽  
Vol 263 (5) ◽  
pp. 1029-1032 ◽  
Author(s):  
Stefano Doccini ◽  
Stefano Sartori ◽  
Stefan Maeser ◽  
Francesco Pezzini ◽  
Sara Rossato ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Novel Mutation ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)

1999 ◽  
Vol 19 (7) ◽  
pp. 685-688 ◽  
Author(s):  
Juhani Rapola ◽  
Jaana Lähdetie ◽  
Juha Isosomppi ◽  
Päivi Helminen ◽  
Maila Penttinen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis
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