Strømme P - Search Results

1

Encephaloneuropathy with lysosomal zebra bodies and GM2 ganglioside storage.

Strømme P, Månsson JE, Scott H, Skullerud K, Hovig T. Strømme P, et al. Pediatr Neurol. 1997 Feb;16(2):141-4. doi: 10.1016/s0887-8994(96)00298-6. Pediatr Neurol. 1997. PMID: 9090689

2

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D. Sumathipala D, et al. Among authors: stromme p. Pediatr Neurol. 2019 Jul;96:74-75. doi: 10.1016/j.pediatrneurol.2019.02.001. Epub 2019 Feb 13. Pediatr Neurol. 2019. PMID: 30898414 No abstract available.

3

Microphthalmia and brain atrophy: a novel neurodegenerative disease.

Kanavin ØJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap MS, Strømme P. Kanavin ØJ, et al. Among authors: stromme p. Ann Neurol. 2006 Apr;59(4):719-23. doi: 10.1002/ana.20827. Ann Neurol. 2006. PMID: 16566018

4

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Among authors: stromme p. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.

5

Renal cysts in the carbohydrate-deficient glycoprotein syndrome.

Strøm EH, Strømme P, Westvik J, Pedersen SJ. Strøm EH, et al. Among authors: stromme p. Pediatr Nephrol. 1993 Jun;7(3):253-5. doi: 10.1007/BF00853211. Pediatr Nephrol. 1993. PMID: 8518092

6

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

Orstavik KH, Strømme P, Ek J, Torvik A, Skjeldal OH. Orstavik KH, et al. Among authors: stromme p. J Med Genet. 1997 Oct;34(10):849-51. doi: 10.1136/jmg.34.10.849. J Med Genet. 1997. PMID: 9350820 Free PMC article.

7

Aetiology in severe and mild mental retardation: a population-based study of Norwegian children.

Strømme P. Strømme P. Dev Med Child Neurol. 2000 Feb;42(2):76-86. doi: 10.1017/s0012162200000165. Dev Med Child Neurol. 2000. PMID: 10698323 Free article.

8

Prevalence of psychiatric diagnoses in children with mental retardation: data from a population-based study.

Strømme P, Diseth TH. Strømme P, et al. Dev Med Child Neurol. 2000 Apr;42(4):266-70. doi: 10.1017/s0012162200000451. Dev Med Child Neurol. 2000. PMID: 10795566 Free article.

9

Prevalence estimation of Williams syndrome.

Strømme P, Bjørnstad PG, Ramstad K. Strømme P, et al. J Child Neurol. 2002 Apr;17(4):269-71. doi: 10.1177/088307380201700406. J Child Neurol. 2002. PMID: 12088082

10

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX.

Strømme P, Bakke SJ, Dahl A, Gécz J. Strømme P, et al. J Neurol Neurosurg Psychiatry. 2003 Apr;74(4):536-8. doi: 10.1136/jnnp.74.4.536. J Neurol Neurosurg Psychiatry. 2003. PMID: 12640086 Free PMC article.

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