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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 3
1986 1
1987 3
1988 5
1989 2
1990 9
1991 4
1992 3
1993 2
1994 3
1995 4
1996 3
1997 7
1998 6
1999 8
2000 5
2001 12
2002 11
2003 11
2004 2
2005 12
2006 11
2007 12
2008 14
2009 15
2010 11
2011 21
2012 20
2013 11
2014 11
2015 12
2016 21
2017 17
2018 22
2019 18
2020 14
2021 11
2022 5
2023 11
2024 4

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329 results

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Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 wer …
Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individu …
Rett syndrome.
Naidu SB. Naidu SB. Indian J Pediatr. 1997 Sep-Oct;64(5):651-9. doi: 10.1007/BF02726119. Indian J Pediatr. 1997. PMID: 10771898 Review.
Although it is associated with devastating loss of function between infancy and the fifth year of life, its course becomes relatively static thereafter, setting it apart from most of the genetic neurodegenerative disorders of childhood. ...
Although it is associated with devastating loss of function between infancy and the fifth year of life, its course becomes relatively …
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C. Vilvarajan S, et al. Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607. Genes (Basel). 2023. PMID: 37628658 Free PMC article. Review.
This retrospective analysis of individuals who attended the clinic from 2000 to 2020 was performed to identify the incidence and predicted age of onset of Rett syndrome related comorbidities, disease progression and to review management principles. ...
This retrospective analysis of individuals who attended the clinic from 2000 to 2020 was performed to identify the incidence and predicte …
OxInflammation in Rett syndrome.
Pecorelli A, Cervellati C, Hayek J, Valacchi G. Pecorelli A, et al. Int J Biochem Cell Biol. 2016 Dec;81(Pt B):246-253. doi: 10.1016/j.biocel.2016.07.015. Epub 2016 Jul 15. Int J Biochem Cell Biol. 2016. PMID: 27425398 Review.
In this light, the purpose of this review is to describe and to stimulate a new discussion on the idea that systemic subclinical inflammation and oxidative stress are crucial players of a detrimental vicious circle, driving the pathogenesis and clinical course of RTT....
In this light, the purpose of this review is to describe and to stimulate a new discussion on the idea that systemic subclinical inflammatio …
Compromised immune/inflammatory responses in Rett syndrome.
Pecorelli A, Cervellati C, Cordone V, Hayek J, Valacchi G. Pecorelli A, et al. Free Radic Biol Med. 2020 May 20;152:100-106. doi: 10.1016/j.freeradbiomed.2020.02.023. Epub 2020 Feb 28. Free Radic Biol Med. 2020. PMID: 32119978 Review.
The findings show that abnormalities of humoral and cell-mediated immunity together with chronic low-grade inflammation in multiple organs represent not only clinical manifestations of RTT but rather can contribute to its development and deteriorating course. A future rese …
The findings show that abnormalities of humoral and cell-mediated immunity together with chronic low-grade inflammation in multiple organs r …
Epilepsy and genetic in Rett syndrome: A review.
Operto FF, Mazza R, Pastorino GMG, Verrotti A, Coppola G. Operto FF, et al. Brain Behav. 2019 May;9(5):e01250. doi: 10.1002/brb3.1250. Epub 2019 Mar 30. Brain Behav. 2019. PMID: 30929312 Free PMC article.
The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6-12 months) followed by a rapid decline with regression of acquired motor skills, loss of spoken language and purposeful hand use, onset of hand stereotypes, abnormal gait, and …
The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6-12 months) followed by a rapid decli …
Scoliosis in Rett syndrome.
Huang TJ, Lubicky JP, Hammerberg KW. Huang TJ, et al. Orthop Rev. 1994 Dec;23(12):931-7. Orthop Rev. 1994. PMID: 7885724 Review.
Severity Assessment in CDKL5 Deficiency Disorder.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Demarest S, et al. Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27. Pediatr Neurol. 2019. PMID: 31147226 Free PMC article. Review.
A specific severity assessment is lacking, required to monitor the clinical course and needed to define the natural history and for clinical trial readiness. ...
A specific severity assessment is lacking, required to monitor the clinical course and needed to define the natural history and for c …
Motor function in Rett syndrome: comparing clinical and parental assessments.
Rodocanachi Roidi ML, Isaias IU, Cozzi F, Grange F, Scotti FM, Gestra VF, Gandini A, Ripamonti E. Rodocanachi Roidi ML, et al. Dev Med Child Neurol. 2019 Aug;61(8):957-963. doi: 10.1111/dmcn.14109. Epub 2018 Nov 26. Dev Med Child Neurol. 2019. PMID: 30474854 Free article.
Severity of scoliosis and mutation type emerged as significant predictors of motor function. INTERPRETATION: The RESMES characterized the (loco-)motor impairments of the patients with RTT well. ...RESMES scores provided by clinicians and parents were highly correlated. The …
Severity of scoliosis and mutation type emerged as significant predictors of motor function. INTERPRETATION: The RESMES characterized …
329 results