Andermann syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Andermann syndrome" in English language version.

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24nih.gov

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14doi.org

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2handle.net

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1omim.org

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1orpha.net

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1worldcat.org

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doi.org

Howard, HC; Mount, DB; Rochefort, D; Byun, N; Dupré, N; Lu, J; Fan, X; Song, L; Rivière, JB; Prévost, C; Horst, J; Simonati, A; Lemcke, B; Welch, R; England, R; Zhan, FQ; Mercado, A; Siesser, WB; George, AL Jr; McDonald, MP; Bouchard, J-P; Mathieu, J; Delpire, E; Rouleau, GA (2002). "The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum". Nature Genetics. 32 (3): 384–392. doi:10.1038/ng1002. PMID 12368912.
Uyanik, G.; Elcioglu, N.; Penzien, J.; Gross, C.; Yilmaz, Y.; Olmez, A.; Demir, E.; Wahl, D.; Scheglmann, K. (2006). "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome". Neurology. 66 (7): 1044–1048. doi:10.1212/01.wnl.0000204181.31175.8b. ISSN 1526-632X. PMID 16606917. S2CID 280621.
Garneau, AP; Marcoux, AA; Frenette-Cotton, R; Mac-Way, F; Lavoie, JL; Isenring, P (2017). "Molecular insights into the normal operation, regulation, and multisystemic roles of K+-Cl- cotransporter 3 (KCC3)". American Journal of Physiology. Cell Physiology. 313 (5): C516 – C532. doi:10.1152/ajpcell.00106.2017. hdl:1866/33307. PMID 28814402.
Shekarabi, M; Salin-Cantegrel, A; Laganière, J; Gaudet, R; Dion, P; Rouleau, GA (2011). "Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse". Brain Research. 1374: 15–26. doi:10.1016/j.brainres.2010.12.010. PMID 21147077.
Filteau, MJ; Pourcher, E; Bouchard, RH; Baruch, P; Mathieu, J; Bédard, F; Simard, N; Vincent, P (1991). "Corpus callosum agenesis and psychosis in Andermann syndrome". Archives of Neurology. 48 (12): 1275–1280. doi:10.1001/archneur.1991.00530240079027. PMID 1668979.
Larbrisseau, A; Vanasse, M; Brochu, P; Jasmin, G (1984). "The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy". Canadian Journal of Neurological Sciences. 11 (2): 257–261. doi:10.1017/s0317167100045509. PMID 6329500.
Shekarabi, M; Moldrich, RX; Rasheed, S; Salin-Cantegrel, A; Laganière, J; Rochefort, D; Hince, P; Huot, K; Gaudet, R; Kurniawan, N; Sotocinal, SG; Ritchie, J; Dion, PA; Mogil, JS; Richards, LJ; Rouleau, GA (2012). "Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum". Journal of Neuroscience. 32 (11): 3865–3876. doi:10.1523/JNEUROSCI.3679-11.2012. PMC 6703451. PMID 22423107.
Van Poucke, M; Stee, K; Sonck, L; Stock, E; Bosseler, S; Van Dorpe, J; Van Nieuwerburgh, F; Deforce, D; Peelman, LJ; Van Ham, L; Bhatti, SFM; Broeckx, BJG (2019). "Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs". European Journal of Human Genetics. 27 (10): 1561–1568. doi:10.1038/s41431-019-0432-3. PMC 6777613. PMID 31160700.
Auer RN, Laganière JL, Robitaille YO, Richardson J, Dion PA, Rouleau GA, Shekarabi M (2016). "KCC3 axonopathy: neuropathological features in the central and peripheral nervous system". Modern Pathology. 29 (9): 962–976. doi:10.1038/modpathol.2016.90. PMID 27230413.
Sung, JH (1987). "Tangled masses of central axons (central axonomas) in the brain stem: anatomical evidence for the regenerative growth of human central axons". Journal of Neuropathology and Experimental Neurology. 46 (2): 200–213. doi:10.1097/00005072-198703000-00007. PMID 3819774.
Demir, E; Irobi, J; Erdem, S; Demirci, M; Tan, E; Timmerman, V; De Jonghe, P; Topaloglu, H (2003). "Andermann syndrome in a Turkish patient". Journal of Child Neurology. 18 (1): 76–79. doi:10.1177/08830738030180011901. PMID 12661946.
Deleu, D; Bamanikar, SA; Muirhead, D; Louon, A (1997). "Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study". European Neurology. 37 (2): 104–109. doi:10.1159/000117419. PMID 9058066.
Pacheva, I; Todorov, T; Halil, Z; Yordanova, R; Todorova, A; Geneva, I; Galabova, F; Ivanov, I (2019). "First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene". American Journal of Medical Genetics Part A. 179 (6): 1020–1024. doi:10.1002/ajmg.a.61110. PMID 30868738.
Løseth, S; Høyer, H; Le, K-M; Delpire, E; Kinge, E; Lande, A; Hilmarsen, HT; Fagerheim, T; Nilssen, Ø; Braathen, GJ (2023). "Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype". Brain. 146 (3): 912–922. doi:10.1093/brain/awac488. hdl:10037/28541. PMC 9976957. PMID 36542484.

handle.net

hdl.handle.net

Garneau, AP; Marcoux, AA; Frenette-Cotton, R; Mac-Way, F; Lavoie, JL; Isenring, P (2017). "Molecular insights into the normal operation, regulation, and multisystemic roles of K+-Cl- cotransporter 3 (KCC3)". American Journal of Physiology. Cell Physiology. 313 (5): C516 – C532. doi:10.1152/ajpcell.00106.2017. hdl:1866/33307. PMID 28814402.
Løseth, S; Høyer, H; Le, K-M; Delpire, E; Kinge, E; Lande, A; Hilmarsen, HT; Fagerheim, T; Nilssen, Ø; Braathen, GJ (2023). "Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype". Brain. 146 (3): 912–922. doi:10.1093/brain/awac488. hdl:10037/28541. PMC 9976957. PMID 36542484.

nih.gov

pubmed.ncbi.nlm.nih.gov

Dupré, Nicolas; Howard, Heidi C.; Rouleau, Guy A. (1993-01-01). "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301546.
Andermann, E; Andermann, F; Joubert, D; Melançon, D; Karpati, G; Carpenter, S (1975). "Three familial midline malformation syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis". Birth Defects Original Article Series. 11 (2): 269–293. PMID 1227532.
Howard, HC; Mount, DB; Rochefort, D; Byun, N; Dupré, N; Lu, J; Fan, X; Song, L; Rivière, JB; Prévost, C; Horst, J; Simonati, A; Lemcke, B; Welch, R; England, R; Zhan, FQ; Mercado, A; Siesser, WB; George, AL Jr; McDonald, MP; Bouchard, J-P; Mathieu, J; Delpire, E; Rouleau, GA (2002). "The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum". Nature Genetics. 32 (3): 384–392. doi:10.1038/ng1002. PMID 12368912.
Uyanik, G.; Elcioglu, N.; Penzien, J.; Gross, C.; Yilmaz, Y.; Olmez, A.; Demir, E.; Wahl, D.; Scheglmann, K. (2006). "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome". Neurology. 66 (7): 1044–1048. doi:10.1212/01.wnl.0000204181.31175.8b. ISSN 1526-632X. PMID 16606917. S2CID 280621.
Garneau, AP; Marcoux, AA; Frenette-Cotton, R; Mac-Way, F; Lavoie, JL; Isenring, P (2017). "Molecular insights into the normal operation, regulation, and multisystemic roles of K+-Cl- cotransporter 3 (KCC3)". American Journal of Physiology. Cell Physiology. 313 (5): C516 – C532. doi:10.1152/ajpcell.00106.2017. hdl:1866/33307. PMID 28814402.
Shekarabi, M; Salin-Cantegrel, A; Laganière, J; Gaudet, R; Dion, P; Rouleau, GA (2011). "Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse". Brain Research. 1374: 15–26. doi:10.1016/j.brainres.2010.12.010. PMID 21147077.
Filteau, MJ; Pourcher, E; Bouchard, RH; Baruch, P; Mathieu, J; Bédard, F; Simard, N; Vincent, P (1991). "Corpus callosum agenesis and psychosis in Andermann syndrome". Archives of Neurology. 48 (12): 1275–1280. doi:10.1001/archneur.1991.00530240079027. PMID 1668979.
Larbrisseau, A; Vanasse, M; Brochu, P; Jasmin, G (1984). "The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy". Canadian Journal of Neurological Sciences. 11 (2): 257–261. doi:10.1017/s0317167100045509. PMID 6329500.
Shekarabi, M; Moldrich, RX; Rasheed, S; Salin-Cantegrel, A; Laganière, J; Rochefort, D; Hince, P; Huot, K; Gaudet, R; Kurniawan, N; Sotocinal, SG; Ritchie, J; Dion, PA; Mogil, JS; Richards, LJ; Rouleau, GA (2012). "Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum". Journal of Neuroscience. 32 (11): 3865–3876. doi:10.1523/JNEUROSCI.3679-11.2012. PMC 6703451. PMID 22423107.
Van Poucke, M; Stee, K; Sonck, L; Stock, E; Bosseler, S; Van Dorpe, J; Van Nieuwerburgh, F; Deforce, D; Peelman, LJ; Van Ham, L; Bhatti, SFM; Broeckx, BJG (2019). "Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs". European Journal of Human Genetics. 27 (10): 1561–1568. doi:10.1038/s41431-019-0432-3. PMC 6777613. PMID 31160700.
Auer RN, Laganière JL, Robitaille YO, Richardson J, Dion PA, Rouleau GA, Shekarabi M (2016). "KCC3 axonopathy: neuropathological features in the central and peripheral nervous system". Modern Pathology. 29 (9): 962–976. doi:10.1038/modpathol.2016.90. PMID 27230413.
Sung, JH (1987). "Tangled masses of central axons (central axonomas) in the brain stem: anatomical evidence for the regenerative growth of human central axons". Journal of Neuropathology and Experimental Neurology. 46 (2): 200–213. doi:10.1097/00005072-198703000-00007. PMID 3819774.
Demir, E; Irobi, J; Erdem, S; Demirci, M; Tan, E; Timmerman, V; De Jonghe, P; Topaloglu, H (2003). "Andermann syndrome in a Turkish patient". Journal of Child Neurology. 18 (1): 76–79. doi:10.1177/08830738030180011901. PMID 12661946.
Lesca, G; Cournu-Rebeix, I; Azoulay-Cayla, A; Lyon-Caen, Q; Barois, A; Dulac, O; Fontaine, B (2001). "Andermann syndrome in an Algerian family: suggestion of phenotype and genetic homogeneity". Revue Neurologique. 157 (10): 1279–1281. PMID 11885521.
Deleu, D; Bamanikar, SA; Muirhead, D; Louon, A (1997). "Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study". European Neurology. 37 (2): 104–109. doi:10.1159/000117419. PMID 9058066.
Pacheva, I; Todorov, T; Halil, Z; Yordanova, R; Todorova, A; Geneva, I; Galabova, F; Ivanov, I (2019). "First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene". American Journal of Medical Genetics Part A. 179 (6): 1020–1024. doi:10.1002/ajmg.a.61110. PMID 30868738.
Løseth, S; Høyer, H; Le, K-M; Delpire, E; Kinge, E; Lande, A; Hilmarsen, HT; Fagerheim, T; Nilssen, Ø; Braathen, GJ (2023). "Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype". Brain. 146 (3): 912–922. doi:10.1093/brain/awac488. hdl:10037/28541. PMC 9976957. PMID 36542484.

ncbi.nlm.nih.gov

Dupré, Nicolas; Howard, Heidi C.; Rouleau, Guy A. (1993-01-01). "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301546.
Shekarabi, M; Moldrich, RX; Rasheed, S; Salin-Cantegrel, A; Laganière, J; Rochefort, D; Hince, P; Huot, K; Gaudet, R; Kurniawan, N; Sotocinal, SG; Ritchie, J; Dion, PA; Mogil, JS; Richards, LJ; Rouleau, GA (2012). "Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum". Journal of Neuroscience. 32 (11): 3865–3876. doi:10.1523/JNEUROSCI.3679-11.2012. PMC 6703451. PMID 22423107.
Van Poucke, M; Stee, K; Sonck, L; Stock, E; Bosseler, S; Van Dorpe, J; Van Nieuwerburgh, F; Deforce, D; Peelman, LJ; Van Ham, L; Bhatti, SFM; Broeckx, BJG (2019). "Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs". European Journal of Human Genetics. 27 (10): 1561–1568. doi:10.1038/s41431-019-0432-3. PMC 6777613. PMID 31160700.
Dupré, Nicolas (12 June 2014). "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum". University of Washington, Seattle. Retrieved 18 April 2020.
Løseth, S; Høyer, H; Le, K-M; Delpire, E; Kinge, E; Lande, A; Hilmarsen, HT; Fagerheim, T; Nilssen, Ø; Braathen, GJ (2023). "Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype". Brain. 146 (3): 912–922. doi:10.1093/brain/awac488. hdl:10037/28541. PMC 9976957. PMID 36542484.

ghr.nlm.nih.gov

"Andermann syndrome". Genetics Home Reference. NIH. Retrieved 19 January 2017.

rarediseases.info.nih.gov

"Andermann syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-01-19.

omim.org

"AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN". www.omim.org. Retrieved 2017-01-19.

orpha.net

RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Corpus callosum agenesis neuronopathy syndrome". www.orpha.net. Retrieved 2017-01-19.{{cite web}}: CS1 maint: numeric names: authors list (link)

semanticscholar.org

api.semanticscholar.org

Uyanik, G.; Elcioglu, N.; Penzien, J.; Gross, C.; Yilmaz, Y.; Olmez, A.; Demir, E.; Wahl, D.; Scheglmann, K. (2006). "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome". Neurology. 66 (7): 1044–1048. doi:10.1212/01.wnl.0000204181.31175.8b. ISSN 1526-632X. PMID 16606917. S2CID 280621.

worldcat.org

search.worldcat.org

Uyanik, G.; Elcioglu, N.; Penzien, J.; Gross, C.; Yilmaz, Y.; Olmez, A.; Demir, E.; Wahl, D.; Scheglmann, K. (2006). "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome". Neurology. 66 (7): 1044–1048. doi:10.1212/01.wnl.0000204181.31175.8b. ISSN 1526-632X. PMID 16606917. S2CID 280621.