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1976 1
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2000 1
2003 1
2004 3
2005 2
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2008 2
2009 2
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37 results

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Page 1
Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.
Solazzi R, Nanni G, Esposito S, Estienne M, Freri E, Zibordi F, Canafoglia L, Castellotti B, Granata T. Solazzi R, et al. Pediatr Neurol. 2023 Oct;147:24-27. doi: 10.1016/j.pediatrneurol.2023.06.012. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37542971
Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by poor growth, intellectual disability, spastic tetraparesis, and movement disorders, including paroxysmal ones (startle reaction and paroxysmal dyskines …
Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by poor growth, intellectual …
Os odontoideum.
Di Silvestre M, Guizzardi S, Gargiulo G, Savini R. Di Silvestre M, et al. Chir Organi Mov. 1991 Apr-Jun;76(2):179-91. Chir Organi Mov. 1991. PMID: 1756679 English, Italian.
Between January 1981 and December 1985 at the Rizzoli Orthopaedic Institute 8 patients affected with atlo-axial instability secondary to os odontoideum were submitted to surgery: all of the patients were characterized by persistent cervical pain and neurological deficit, which wa …
Between January 1981 and December 1985 at the Rizzoli Orthopaedic Institute 8 patients affected with atlo-axial instability secondary to os …
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. Rattay TW, et al. Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102. Brain. 2019. PMID: 31135052 Free PMC article.
FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability, dysarthria, dysphagia, cerebellar ataxia, and cognitive deficits, often accompanied by exotropia and movement disorders. ...
FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability, dysarth …
Treatment Outcomes of Pediatric Status Epilepticus in a Tertiary Pediatric Intensive Care Unit.
Cavusoglu D, Sınmaz EE, Dundar NO, Can FK, Anil AB, Sarioglu B. Cavusoglu D, et al. Pediatr Emerg Care. 2021 Jul 1;37(7):360-364. doi: 10.1097/PEC.0000000000001914. Pediatr Emerg Care. 2021. PMID: 32149989
Whereas mortality rate was 10%, morbidity rate was 14% during the follow-up. Epilepsy, hemiparesis, spastic tetraparesis, and mental retardation developed. Mortality was significantly much more in the patients with refractory seizure and cerebral palsy. ...
Whereas mortality rate was 10%, morbidity rate was 14% during the follow-up. Epilepsy, hemiparesis, spastic tetraparesis, and …
Comparative study on gastrostomy and orally nutrition of children and adolescents with tetraparesis cerebral palsy.
Caselli TB, Lomazi EA, Montenegro MAS, Bellomo-Brandão MA. Caselli TB, et al. Arq Gastroenterol. 2017 Dec;54(4):292-296. doi: 10.1590/S0004-2803.201700000-48. Epub 2017 Sep 21. Arq Gastroenterol. 2017. PMID: 28954047 Free article.
METHODS: A transversal and descriptive study on 54 patients with spastic tetraparesis was held. The referred parameters were: weight, knee height and estimated height, cutaneous folds and circumferences. ...
METHODS: A transversal and descriptive study on 54 patients with spastic tetraparesis was held. The referred parameters were: …
Two-year follow-up of children with congenital Zika syndrome: the evolution of clinical patterns.
Rua EC, de Oliveira SA, de Oliveira Vianna RA, Dalcastel LAB, de Castro Sarmet Dos Santos TC, Cardoso CAA, Fernandes AR. Rua EC, et al. Eur J Pediatr. 2022 Mar;181(3):991-999. doi: 10.1007/s00431-021-04280-z. Epub 2021 Oct 18. Eur J Pediatr. 2022. PMID: 34661750
Axial hypertonia was highly prevalent at 4 months (77%), with a decrease to 50% at 24 months. At all ages, spastic tetraparesis was the most common motor abnormality (> 80%). ...
Axial hypertonia was highly prevalent at 4 months (77%), with a decrease to 50% at 24 months. At all ages, spastic tetraparesis …
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N. Romani M, et al. Eur J Neurol. 2015 Jan;22(1):178-86. doi: 10.1111/ene.12552. Epub 2014 Aug 27. Eur J Neurol. 2015. PMID: 25164370
The phenotype was highly homogeneous, with rapid development of severe spastic tetraparesis, cognitive impairment and optic atrophy. Neuroimaging showed cerebellar atrophy and claval hypertrophy to be the commonest and earliest signs, whilst cerebellar cortex hyperi …
The phenotype was highly homogeneous, with rapid development of severe spastic tetraparesis, cognitive impairment and optic at …
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Eur J Hum Genet. 2021 Sep;29(9):1359-1368. doi: 10.1038/s41431-021-00900-2. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075211 Free PMC article.
We identified a functionally relevant mtDNA variant in MT-TL1 (NC_012920.1:m.3291T > C; NC_012920.1:n.62T > C), at a heteroplasmy level of 22% in whole blood, in a 23-year-old male with severe intellectual disability, epilepsy, episodic headaches with emesis, spastic …
We identified a functionally relevant mtDNA variant in MT-TL1 (NC_012920.1:m.3291T > C; NC_012920.1:n.62T > C), at a heteroplasmy leve …
Would Zika virus Infection in Pregnancy Be a Sentence of Poor Neurological Prognosis for Exposed Children? Neurodevelopmental Outcomes in a Cohort from Brazilian Amazon.
Abtibol-Bernardino MR, Peixoto LFAA, Castilho MDC, Bôtto-Menezes CHA, Benzecry SG, Otani RH, Rodrigues GRI, Chaves BCS, Oliveira GA, Rodrigues CS, Martinez-Espinosa FE, Alecrim MDGC. Abtibol-Bernardino MR, et al. Viruses. 2022 Nov 28;14(12):2659. doi: 10.3390/v14122659. Viruses. 2022. PMID: 36560662 Free PMC article.
All microcephalic children (5.2%) evolved with severe neuropsychomotor-development delay, spastic tetraparesis, and alterations in the imaging exam. In this cohort, 10.5% of the children had macrocephaly at birth, but only 2.6% remained in this classification. ...
All microcephalic children (5.2%) evolved with severe neuropsychomotor-development delay, spastic tetraparesis, and alteration …
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, Rajabally Y, Shaw P. Hewamadduma C, et al. Neurogenetics. 2009 Apr;10(2):105-10. doi: 10.1007/s10048-008-0163-z. Epub 2008 Nov 26. Neurogenetics. 2009. PMID: 19034539
The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. ...
The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second …
37 results