FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2078557934> ?p ?o ?g. }

• W2078557934 endingPage "63" @default.
• W2078557934 startingPage "42" @default.
• W2078557934 abstract "The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features include a variable age of onset, motor and mental decline, epilepsy, visual loss, and premature death. Mutations in eight genes (PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8) have been identified and several more are predicted to exist, including two provisionally named CLN4 and CLN9. Despite excessive in vitro and in vivo studies, the precise functions of the NCL proteins and the disease mechanisms remain elusive. To date 365 NCL-causing mutations are known, with 91 novel disease-causing mutations reported. These are reviewed with an emphasis on their complex correlation to phenotypes. Different mutations within the NCL spectrum can cause variable disease severity. The NCLs exemplify both phenotypic convergence or mimicry and phenotypic divergence. For example, mutations in CLN5, CLN6, MFSD8, or CLN8 can underlie the clinically similar late infantile variant NCL disease. Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant. The increase in the genetic understanding of the NCLs has led to improved diagnostic approaches, and the recent proposal of a new nomenclature." @default.
• W2078557934 created "2016-06-24" @default.
• W2078557934 creator A5015777655 @default.
• W2078557934 creator A5025592257 @default.
• W2078557934 creator A5042806203 @default.
• W2078557934 date "2011-11-16" @default.
• W2078557934 modified "2023-10-18" @default.
• W2078557934 title "Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses" @default.
• W2078557934 cites W116205829 @default.
• W2078557934 cites W1486197790 @default.
• W2078557934 cites W1488354887 @default.
• W2078557934 cites W1488986178 @default.
• W2078557934 cites W1546743612 @default.
• W2078557934 cites W1555972529 @default.
• W2078557934 cites W1597721823 @default.
• W2078557934 cites W1606853417 @default.
• W2078557934 cites W1749025580 @default.
• W2078557934 cites W1884093662 @default.
• W2078557934 cites W1889762023 @default.
• W2078557934 cites W1963819382 @default.
• W2078557934 cites W1964040548 @default.
• W2078557934 cites W1965537134 @default.
• W2078557934 cites W1966788303 @default.
• W2078557934 cites W1968086560 @default.
• W2078557934 cites W1968814205 @default.
• W2078557934 cites W1969666955 @default.
• W2078557934 cites W1970047246 @default.
• W2078557934 cites W1971809179 @default.
• W2078557934 cites W1972531087 @default.
• W2078557934 cites W1972703191 @default.
• W2078557934 cites W1973183828 @default.
• W2078557934 cites W1974168805 @default.
• W2078557934 cites W1974236665 @default.
• W2078557934 cites W1975578189 @default.
• W2078557934 cites W1976334979 @default.
• W2078557934 cites W1976543920 @default.
• W2078557934 cites W1977877153 @default.
• W2078557934 cites W1979182028 @default.
• W2078557934 cites W1979401531 @default.
• W2078557934 cites W1981466662 @default.
• W2078557934 cites W1984927769 @default.
• W2078557934 cites W1986243401 @default.
• W2078557934 cites W1989669198 @default.
• W2078557934 cites W1992869243 @default.
• W2078557934 cites W1993128366 @default.
• W2078557934 cites W1994209315 @default.
• W2078557934 cites W1994263020 @default.
• W2078557934 cites W1995411277 @default.
• W2078557934 cites W1995697718 @default.
• W2078557934 cites W1998478158 @default.
• W2078557934 cites W1998735382 @default.
• W2078557934 cites W1999643045 @default.
• W2078557934 cites W1999755032 @default.
• W2078557934 cites W1999962768 @default.
• W2078557934 cites W2001289527 @default.
• W2078557934 cites W2001527927 @default.
• W2078557934 cites W2002458605 @default.
• W2078557934 cites W2003671736 @default.
• W2078557934 cites W2003743371 @default.
• W2078557934 cites W2004000104 @default.
• W2078557934 cites W2005144914 @default.
• W2078557934 cites W2006977540 @default.
• W2078557934 cites W2008054364 @default.
• W2078557934 cites W2009725600 @default.
• W2078557934 cites W2010740985 @default.
• W2078557934 cites W2011933633 @default.
• W2078557934 cites W2011950472 @default.
• W2078557934 cites W2016874659 @default.
• W2078557934 cites W2019091774 @default.
• W2078557934 cites W2019235522 @default.
• W2078557934 cites W2020278806 @default.
• W2078557934 cites W2020746387 @default.
• W2078557934 cites W2021311269 @default.
• W2078557934 cites W2023070238 @default.
• W2078557934 cites W2023512898 @default.
• W2078557934 cites W2023539986 @default.
• W2078557934 cites W2023722375 @default.
• W2078557934 cites W2024104932 @default.
• W2078557934 cites W2025567211 @default.
• W2078557934 cites W2026657765 @default.
• W2078557934 cites W2027421433 @default.
• W2078557934 cites W2028970794 @default.
• W2078557934 cites W2029509452 @default.
• W2078557934 cites W2030519834 @default.
• W2078557934 cites W2031789185 @default.
• W2078557934 cites W2033612482 @default.
• W2078557934 cites W2035450424 @default.
• W2078557934 cites W2035459166 @default.
• W2078557934 cites W2037458235 @default.
• W2078557934 cites W2039072463 @default.
• W2078557934 cites W2040107841 @default.
• W2078557934 cites W2040132573 @default.
• W2078557934 cites W2040516771 @default.
• W2078557934 cites W2043146061 @default.
• W2078557934 cites W2043802584 @default.
• W2078557934 cites W2045483518 @default.
• W2078557934 cites W2045986631 @default.
• W2078557934 cites W2046520557 @default.

• next