ℹ️
🇬🇧
Search
Search for publications relevant for "neuronal ceroid-lipofuscinosis"
neuronal ceroid-lipofuscinosis
Publication
Class
Person
Publication
Programmes
publication
Neuronal ceroid lipofuscinosis with cardiac involvement
2019 |
Faculty of Medicine in Pilsen
publication
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
2009 |
First Faculty of Medicine
publication
Study of sleep architecture in neuronal ceroid lipofuscinosis (NCL)
Publication without faculty affiliation
publication
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
2016 |
First Faculty of Medicine
publication
Juvenil neuronal ceroid lipofuscinosis
Publication without faculty affiliation
publication
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
2016 |
First Faculty of Medicine
publication
The NCLs: Evolution of the Concept and Classification
2011 |
First Faculty of Medicine
publication
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency
2003 |
First Faculty of Medicine
publication
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency
2003 |
Faculty of Physical Education and Sport
publication
Neuronal ceroid lipofuscinosis. Closing chapter of a long story (An overview)
2000 |
First Faculty of Medicine
publication
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
2010 |
First Faculty of Medicine
publication
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
2009 |
Publication without faculty affiliation
publication
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
2011 |
First Faculty of Medicine
publication
Juvenille neuronal ceroid lipofuscinosis CLN 3 (Bastten, Vogt-Spielmeyer) A Report of a case
Publication without faculty affiliation
publication
Neuronal ceroid-lipofuscinoses in the Czech Republic. III. Electrophysiological findings
1998 |
Second Faculty of Medicine
publication
Neuronal ceroid lipofuscinosis in the Czech Republic: Analysis of 57 cases. Report of the 'Prague NCL group'.
1997 |
Faculty of Physical Education and Sport
publication
NCL Nomenclature and Classification
2011 |
First Faculty of Medicine
publication
NCL Diagnosis and Algorithms
2011 |
First Faculty of Medicine
publication
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
2020 |
First Faculty of Medicine
publication
CLN5
2011 |
First Faculty of Medicine
publication
Morphological Diagnostic and Pathological Considerations
2011 |
First Faculty of Medicine
publication
CLN7
2011 |
First Faculty of Medicine
publication
CLN2
2011 |
First Faculty of Medicine
publication
Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders
1997 |
First Faculty of Medicine
publication
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V
2013 |
First Faculty of Medicine
publication
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses
2013 |
First Faculty of Medicine
publication
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion
2018 |
First Faculty of Medicine
publication
Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues
2003 |
First Faculty of Medicine
publication
Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues
2003 |
Faculty of Physical Education and Sport
publication
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)
2013 |
First Faculty of Medicine