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

Year Number of Results
1975 1
1978 1
1984 2
1985 1
1986 1
1989 2
1993 1
1994 1
1995 1
1996 1
1997 1
1998 2
1999 3
2000 2
2001 1
2002 1
2003 1
2005 1
2007 2
2009 1
2011 1
2013 3
2014 5
2015 3
2016 1
2017 3
2018 1
2019 1
2020 3
2021 2
2022 1
2024 0

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46 results

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Page 1
Prevalence of bruxism in adults with cerebral palsy institutionalized in Lisbon.
Cabrita JP, Quaresma MC, Bizarra MF. Cabrita JP, et al. Spec Care Dentist. 2022 Mar;42(2):155-159. doi: 10.1111/scd.12650. Epub 2021 Sep 21. Spec Care Dentist. 2022. PMID: 34547111
Data were collected through oral examinations using the diagnostic criteria proposed by the American Academy of Sleep Medicine and the modified scale of Asworth RESULTS: Of the total sample, spastic tetraplegia was the most common type and half of the population pre …
Data were collected through oral examinations using the diagnostic criteria proposed by the American Academy of Sleep Medicine and the modif …
Respiratory Function Under Intrathecal Baclofen Therapy in Patients With Spastic Tetraplegia.
Kishima H, Yanagisawa T, Goto Y, Oshino S, Maruo T, Tani N, Khoo HM, Hosomi K, Hirata M, Yoshimine T. Kishima H, et al. Neuromodulation. 2016 Aug;19(6):650-4. doi: 10.1111/ner.12394. Epub 2016 Feb 2. Neuromodulation. 2016. PMID: 26833715
Six of these 23 patients, who had spastic tetraplegia and were able to undergo spirometric testing, were included this study. ...Our results suggest that ITB therapy is safe and efficacious in patients with spastic tetraplegia and respiratory dysfuncti …
Six of these 23 patients, who had spastic tetraplegia and were able to undergo spirometric testing, were included this study. …
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
Tüysüz B, Bilguvar K, Koçer N, Yalçınkaya C, Çağlayan O, Gül E, Sahin S, Çomu S, Günel M. Tüysüz B, et al. Am J Med Genet A. 2014 Jul;164A(7):1677-85. doi: 10.1002/ajmg.a.36514. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700674
Using homozygosity mapping followed by whole-exome sequencing, we identified two novel homozygous mutations in AP4M1 and a homozygous deletion in AP4B1 in three pairs of siblings. Spastic tetraplegia, microcephaly, severe intellectual disability, limited speech, and …
Using homozygosity mapping followed by whole-exome sequencing, we identified two novel homozygous mutations in AP4M1 and a homozygous deleti …
Five novel mutations in ARG1 gene in Chinese patients of argininemia.
Wu TF, Liu YP, Li XY, Wang Q, Ding Y, Ma YY, Song JQ, Yang YL. Wu TF, et al. Pediatr Neurol. 2013 Aug;49(2):119-23. doi: 10.1016/j.pediatrneurol.2013.04.026. Pediatr Neurol. 2013. PMID: 23859858
PATIENTS AND METHODS: Five Chinese patients with argininemia were investigated. They had progressive spastic tetraplegia, poor physical growth from 1 month to 4 years. ...
PATIENTS AND METHODS: Five Chinese patients with argininemia were investigated. They had progressive spastic tetraplegia, poor …
Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.
Ruan WC, Wang J, Yu YL, Che YP, Ding L, Li CX, Wang XD, Li HF. Ruan WC, et al. BMC Med Genet. 2020 Mar 14;21(1):51. doi: 10.1186/s12881-020-0988-3. BMC Med Genet. 2020. PMID: 32171285 Free PMC article.
Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47). CASE PRESENTATION: Here we present a Chinese patient with spastic tetraplegia, moderate psychomotor development delay and febrile seizures plus. ...
Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47). CASE PRESENTATION: Here we present a Chinese patient w …
Epilepsy in children with cerebral palsy.
Kwong KL, Wong SN, So KT. Kwong KL, et al. Pediatr Neurol. 1998 Jul;19(1):31-6. doi: 10.1016/s0887-8994(98)00011-3. Pediatr Neurol. 1998. PMID: 9682882
A control group of 59 epileptic children with normal neurodevelopment status was seen during the same period. Epilepsy most commonly affected patients with spastic tetraplegia and those with mental subnormality. When compared with controls, children with cerebral pa …
A control group of 59 epileptic children with normal neurodevelopment status was seen during the same period. Epilepsy most commonly affecte …
Development of postural adjustments during reaching in infants with CP.
Hadders-Algra M, van der Fits IB, Stremmelaar EF, Touwen BC. Hadders-Algra M, et al. Dev Med Child Neurol. 1999 Nov;41(11):766-76. doi: 10.1017/s001216229900153x. Dev Med Child Neurol. 1999. PMID: 10576641 Free article.
The development of postural adjustments during reaching movements was longitudinally studied in seven infants with cerebral palsy (CP) between 4 and 18 months of age. Five infants developed spastic hemiplegia, one spastic tetraplegia, and one spastic tetra …
The development of postural adjustments during reaching movements was longitudinally studied in seven infants with cerebral palsy (CP) betwe …
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Beheshtian M, Akhtarkhavari T, Mehvari S, Mohseni M, Fattahi Z, Abedini SS, Arzhangi S, Fadaee M, Jamali P, Najafipour R, Kalscheuer VM, Hu H, Ropers HH, Najmabadi H, Kahrizi K. Beheshtian M, et al. Clin Genet. 2021 Jan;99(1):187-192. doi: 10.1111/cge.13845. Epub 2020 Sep 14. Clin Genet. 2021. PMID: 32895917
Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype-phenotype correlation of the AP-4 deficiency syndrome, we add the data from 30 affected individua …
Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia hav …
Pseudohypoparathyroidism-associated spinal stenosis.
Okada K, Iida K, Sakusabe N, Saitoh H, Abe E, Sato K. Okada K, et al. Spine (Phila Pa 1976). 1994 May 15;19(10):1186-9. doi: 10.1097/00007632-199405001-00019. Spine (Phila Pa 1976). 1994. PMID: 8059279 Review.
In this report, the authors present a case of pseudohypoparathyroidism in a 41-year-old man who had narrow spinal canal and multiple disc herniation in the cervical spine. SUMMARY OF BACKGROUND DATA: The patient had progressive spastic tetraplegia due to cervical co …
In this report, the authors present a case of pseudohypoparathyroidism in a 41-year-old man who had narrow spinal canal and multiple disc he …
46 results