Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

Genomics ◽  
1991 ◽  
Vol 9 (1) ◽  
pp. 170-173 ◽  
Author(s):  
Irma Järvelä ◽  
Johanna Schleutker ◽  
Leena Haataja ◽  
Pirkko Santavuori ◽  
Lea Puhakka ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Chromosome 1 ◽  
Infantile Form ◽  
Ceroid Lipofuscinosis

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 ◽  
Vol 39 (2) ◽  
pp. 182-183 ◽  
Author(s):  
Lorena Travaglini ◽  
Chiara Aiello ◽  
Viola Alesi ◽  
Sara Loddo ◽  
Antonio Novelli ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Ceroid Lipofuscinosis ◽  
Recessive Mutations

MRI and localized proton MRS in early infantile form of neuronal ceroid-lipofuscinosis

1993 ◽  
Vol 9 (1) ◽  
pp. 57-60 ◽  
Author(s):  
Sylviane Confort-Gouny ◽  
Brigitte Chabrol ◽  
Jean Vion-Dury ◽  
Josette Mancini ◽  
Patrick J. Cozzone
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Proton Mrs ◽  
Ceroid Lipofuscinosis

New Subform of the Late Infantile Form of Neuronal Ceroid Lipofuscinosis

1993 ◽  
Vol 24 (03) ◽  
pp. 155-163 ◽  
Author(s):  
K. Wisniewski ◽  
E. Kida ◽  
F. Connell ◽  
M. Elleder ◽  
L. Eviatar ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Ceroid Lipofuscinosis

Pathological study on sibling autopsy cases of the late infantile form of neuronal ceroid lipofuscinosis

1999 ◽  
Vol 21 (1) ◽  
pp. 63-67 ◽  
Author(s):  
Kiyoko Kurata ◽  
Masaharu Hayashi ◽  
Junichi Satoh ◽  
Hideaki Kojima ◽  
Jinroh Nagata ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Pathological Study ◽  
Ceroid Lipofuscinosis

Accumulation of mitochondrial ATP synthase subunit c in muscle in a patient with neuronal ceroid lipofuscinosis (late infantile form)

1997 ◽  
Vol 93 (6) ◽  
pp. 628-632 ◽  
Author(s):  
F. Umehara ◽  
Itsuro Higuchi ◽  
Kenji Tanaka ◽  
Takahito Niiyama ◽  
Junji Ezaki ◽  
...  
Keyword(s):  
Atp Synthase ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Subunit C ◽  
Ceroid Lipofuscinosis ◽  
Mitochondrial Atp Synthase
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