The term ceroid cactus (or sometimes just cereus) is used to describe any of the species of cacti with very elongated bodies, ... Some species of ceroid cacti were known as torch cactus or torch-thistle, supposedly due to their use as torches by Native ... although this general use of the word is regarded as misleading and the word ceroid or ceriform is preferred. The name cereus ...

Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease or Hagberg-Santavuori disease or Santavuori-Haltia ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis An overview (in Finnish) The INCL organization of Finland (in ... June 1999). "A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and ... "Infantile type of so-called neuronal ceroid-lipofuscinosis". Dev Med Child Neurol. 16 (5): 644-53. doi:10.1111/j.1469-8749.1974 ...

Mole, Williams (August 2013). "Neuronal Ceroid-Lipofuscinoses". Neuronal Ceroid-Lipofuscinoses , GeneReviews. University of ... Late-Infantile neuronal ceroid lipofuscinosis. , U.S. National Library of Medicine". Anderson, Glenn W.; Goebel, Hans H.; ... synd/866 at Who Named It? GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis (Articles with short description, ... Jansky-Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid ...

Mole, SE; Williams, Ruth E. (1993). "Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". In Adam ... Neuronal ceroid lipofuscinosis Niemann-Pick diseases Osteoarthritis Osteoporosis Parkinson's disease Pulmonary arterial ... Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.). Neuronal Ceroid-Lipofuscinoses. PMID 20301601 ...

Mole, Sara (1999). "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 ... She investigates the genetic basis of neuronal ceroid lipofuscinosis diseases. Mole has extensively investigated the lysosomal ... The Neuronal Ceroid Lipofuscinoses. Oxford University Press. doi:10.1093/med/9780199972135.003.0059. ISBN 9780199590018. Mole, ... and found that whilst most young patients with juvenile CLN3 disease neuronal ceroid lipofuscinosis share an intragenic ...

2006). "Neuronal Ceroid Lipofuscinoses". GeneReviews (NCBI). Arsov, T; et al. (13 May 2011). "Kufs Disease, the Major Adult ... Kufs disease is one of many diseases categorized under a disorder known as neuronal ceroid lipofuscinosis (NCLs) or Batten ... 2011). "Exome-sequencing confirms DNAJC5 mutations as cause of Adult Neuronal Ceroid-Lipofuscinosis". PLOS ONE. 6 (11): e26741 ... 2011). "Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid ...

Neuronal ceroid lipofuscinosis causes abnormal deposits of lipopigment in sweat gland epithelial cells (among other places). ... Carlén, B.; Englund, E. (August 2001). "Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid ... Lipofuscin and Ceroid Pigments. Advances in Experimental Medicine and Biology. Vol. 266. pp. 299-309. doi:10.1007/978-1-4899- ...

CYP27A1 Ceroid lipofuscinosis, neuronal 8; 600143; CLN8 Ceroid lipofuscinosis, neuronal, 10; 610127; CTSD Ceroid lipofuscinosis ... CLN3 Ceroid-lipofuscinosis, neuronal-5, variant late infantile; 256731; CLN5 Ceroid-lipofuscinosis, neuronal-6, variant late ... CLN8 Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1 Ceroid-lipofuscinosis, neuronal 2, classic late infantile; ... neuronal, 7; 610951; MFSD8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; 610003; ...

Mole, Sara; Williams, Ruth; Goebel, Hans (2011-03-10). The Neuronal Ceroid Lipofuscinoses (Batten Disease). OUP Oxford. ISBN ...

Sara Mole; Ruth Williams; Hans Goebel (10 March 2011). The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University ...

Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene. The neuronal ceroid ... "Entrez Gene: CLN5 ceroid-lipofuscinosis, neuronal 5". Mole SE, Mitchison HM, Munroe PB (1999). "Molecular basis of the neuronal ... 2003). "Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3". Mol. ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses Human CLN5 genome location and CLN5 gene details page in the ...

Mutations in the TPP1 gene leads to late infantile neuronal ceroid lipofuscinosis. The human gene TPP1 encodes a member of the ... Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY (August 2002). "Neuronal ceroid lipofuscinoses caused by defects in ... The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders with pathological phenotypes ... Mole SE, Mitchison HM, Munroe PB (1999). "Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3 ...

"Cerliponase alfa (Brineura) - Ceroid lipofuscinosis 2 (CLN2 disease)". National Institute of Neurological Disorders and Stroke ... Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease). 1852 (10 Pt B): 2237-41. doi:10.1016/j.bbadis.2015.05. ... Kohlschütter A, Schulz A, Bartsch U, Storch S (April 2019). "Current and Emerging Treatment Strategies for Neuronal Ceroid ... Mole SE, Cotman SL (October 2015). "Genetics of the neuronal ceroid lipofuscinoses (Batten disease)". Biochimica et Biophysica ...

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene. The CLN6 protein is part of ... "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant". Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit ... GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses Human CLN6 genome location and CLN6 gene details page in the ... 2003). "Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis". Hum. Mutat. 21 (5): ...

GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis (Articles with short description, Short description matches ... Mutations in this gene may cause neuronal ceroid lipofuscinosis. GRCh38: Ensembl release 89: ENSG00000101152 - Ensembl, May ... "Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis". PLOS ONE. 6 (11): e26741. doi: ... cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis". American Journal of Human Genetics. 89 (2): 241-52. doi: ...

2002). "Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)". Curr. Mol. Med. 2 (5): ... 2007). "Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1". Neurology. 68 (5): 387- ... 2009). "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3 ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis This article incorporates text from the United States National ...

"Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)". Perland E, Fredriksson R ( ... Vesa J, Peltonen L (August 2002). "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode ... Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses Human CLN3 genome location and CLN3 gene details page in the ...

Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS (October 2009). "Neuronal ceroid lipofuscinosis caused by MFSD8 mutations ... "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3): 810-9 ...

She focuses on neuronal ceroid lipofuscinoses (NCLs) or Batten diseases, which are a group of rare pediatric neurodegenerative ... Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2015;57(4): ... Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). JIMD ... Juvenile Neuronal Ceroid Lipofuscinosis)". JIMD Reports. 43: 117-124. doi:10.1007/8904_2018_113. ISBN 978-3-662-58613-6. ISSN ...

... and Neuronal Ceroid Lipofuscinosis". Molecular and Cellular Biology. 40 (19). doi:10.1128/MCB.00262-20. PMC 7491951. PMID ...

GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses Aiello C, Terracciano A, Simonati A, et al. (2009). "Mutations ... 2009). "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3 ... 1999). "A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7". Mol. Genet. Metab. 66 (4): 337-8. doi: ... Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS (2009). "Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a ...

Bond M, Holthaus SM, Tammen I, Tear G, Russell C (November 2013). "Use of model organisms for the study of neuronal ceroid ...

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 Neural ceroid lipofuscinosis. Explaining the mechanism of ... "Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis". Nature Communications. 13 (1): ...

2000). "The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum". Hum. Mol. Genet. ... "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)". di Ronza A, Bajaj L, ... GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses Human CLN8 genome location and CLN8 gene details page in the ... Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid ...

... s can carry the genetic disease canine neuronal ceroid lipofuscinosis, called Batten disease in humans. The ... "Selection response to DNA testing for canine ceroid lipofuscinosis in Tibetan terriers". The Veterinary Journal. 201 (3): 433- ...

He was also involved in the characterization of juvenile neuronal ceroid lipofuscinosis. "Sjögren pronunciation". Forvo. doctor ...

"Glial filaments are a major brain fraction in infantile neuronal ceroid-lipofuscinosis". Acta Neuropathologica. 65 (3-4): 190- ...

Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses This article incorporates text from the public domain Pfam and ... the enzyme defective in infantile neuronal ceroid lipofuscinosis". Genomics. 34 (3): 317-22. doi:10.1006/geno.1996.0292. PMID ... "Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis". Nature. 376 (6541): 584 ...

BCL2L13, also known as B-cell lymphoma 2-like 13, which is an apoptosis facilitator CLN8, also known as Ceroid-lipofuscinosis ... an ER-resident protein involved in neuronal ceroid lipofuscinosis". Biochimica et Biophysica Acta (BBA) - Molecular Cell ...

In 2 Mexican siblings with infantile onset of progressive myoclonic epilepsy and pathologic findings of neuronal ceroid ... "A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system". American Journal of ...

"Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Neuronal Ceroid-Lipofuscinoses. PMID 20301601 ... "eMedicine - Neuronal Ceroid Lipofuscinoses : Article by Celia H Chang". 15 July 2021. Claussen M, Heim P, Knispel J, Goebel HH ... Jul 2002). "Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3". ... Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative ...

It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). Although Batten disease is ... Batten disease at NINDS GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis Batten FE, Mayou MS (1915). "Family ... Bozorg, S; Ramirez-Montealegre, D; Chung, M; Pearce, DA (July 2009). "Juvenile neuronal ceroid lipofuscinosis (JNCL) and the ... May 2008). "Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated ...

"Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Neuronal Ceroid-Lipofuscinoses. GeneReviews. ... Neuronal ceroid lipofuscinosis is a group of diseases that cause blindness, loss of mental abilities, and loss of movement. All ...

Epilepsy Neuronal ceroid lipofuscinosis CLN8 Krystyna E. Wiśniewski; Nanbert Zhong; Jeffrey C. Hall (2001). Batten disease: ... Northern epilepsy syndrome (NE), or progressive epilepsy with mental retardation (EPMR), is a subtype of neuronal ceroid ... ISBN 978-0-12-017645-8. page 125 "NEURONAL CEROID LIPOFUSCINOSIS 8 VIA THE CLN8 GENE". Prevention Genetics. Retrieved 23 March ... Warrier, V; Vieirab M; Mole SE (2013). "Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses". ...

Ceroid cactus Pitaya Queen of the Night Notes Hecht, Hans (1997). Cacti & Succulents. Sterling Pub. Co. p. 76. ISBN 978-0-8069- ... Night-blooming cereus is the common name referring to a large number of flowering ceroid cacti that bloom at night. The flowers ...