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Quoted phrase not found in phrase index: "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"
Page 1
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. ...A cross-sectional analysis revealed global developmental delay/intellectual disability, muscular hypotonia, ataxia, …
Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerat …
A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force.
Albanese A, Barnes MP, Bhatia KP, Fernandez-Alvarez E, Filippini G, Gasser T, Krauss JK, Newton A, Rektor I, Savoiardo M, Valls-Solè J. Albanese A, et al. Eur J Neurol. 2006 May;13(5):433-44. doi: 10.1111/j.1468-1331.2006.01537.x. Eur J Neurol. 2006. PMID: 16722965 Review.
To review the literature on primary dystonia and dystonia plus and to provide evidence-based recommendations. Primary dystonia and dystonia plus are chronic and often disabling conditions with a widespread spectrum mainly in young people. ...Intrathecal baclofen can be ind …
To review the literature on primary dystonia and dystonia plus and to provide evidence-based recommendations. Primary dystonia and dystonia …
Catatonia and Neuroleptic Malignant Syndrome in Patients With Cerebral Palsy: Two Case Reports and a Systematic Review of the Literature.
Barnett BS, Balaji D, Weleff J, Carroll BT. Barnett BS, et al. J Acad Consult Liaison Psychiatry. 2023 May-Jun;64(3):277-293. doi: 10.1016/j.jaclp.2022.12.008. Epub 2022 Dec 28. J Acad Consult Liaison Psychiatry. 2023. PMID: 36586471 Review.
OBJECTIVE: This study aimed to systematically review the literature on catatonia and the related condition of neuroleptic malignant syndrome (NMS) in patients with cerebral palsy while presenting 2 additional cases of catatonia. ...The Neuroleptic Malignant Syndrome …
OBJECTIVE: This study aimed to systematically review the literature on catatonia and the related condition of neuroleptic malignant syndr …
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F. Inuzuka LM, et al. Eur J Paediatr Neurol. 2021 Sep;34:7-13. doi: 10.1016/j.ejpn.2021.05.013. Epub 2021 Jun 21. Eur J Paediatr Neurol. 2021. PMID: 34271245
CONCLUSION: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, intellectual deficiency, or late-onset parkinsonism and spasticity. The typical RS phenotype is not expected in males, except in those …
CONCLUSION: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, i …
Oro-facial functions in experimental models of cerebral palsy: a systematic review.
Lacerda DC, Ferraz-Pereira KN, Bezerra de Morais AT, Costa-de-Santana BJ, Quevedo OG, Manhães-de-Castro R, Toscano AE. Lacerda DC, et al. J Oral Rehabil. 2017 Apr;44(4):251-260. doi: 10.1111/joor.12489. J Oral Rehabil. 2017. PMID: 28160523 Review.
Studies in animals have contributed to elaborate potential therapies aimed at minimising the chronic disability of the syndrome. To systematically review the scientific literature regarding the possible effects that experimental models of CP can have on oro-facial f …
Studies in animals have contributed to elaborate potential therapies aimed at minimising the chronic disability of the syndrome …