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

Year Number of Results
1974 1
1989 2
1990 1
1991 2
1992 3
1993 2
1994 1
1995 1
1997 2
1998 1
1999 1
2000 1
2001 1
2002 1
2003 2
2004 1
2005 3
2006 4
2007 1
2008 3
2009 1
2010 5
2011 2
2012 4
2013 3
2014 4
2015 7
2016 4
2017 1
2019 5
2020 3
2021 2
2022 1
2023 1
2024 0

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71 results

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Page 1
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosis and genetic counseling. 2019 International Parkinson and Movement Disorder Society....
Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosi …
Leukodystrophies.
Perlman SJ, Mar S. Perlman SJ, et al. Adv Exp Med Biol. 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. Adv Exp Med Biol. 2012. PMID: 22411242 Review.
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail …
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, tre …
Pelizaeus-Merzbacher disease.
Kumar R, Aneja S, Taluja V, Agarwal A, Mahajan H. Kumar R, et al. Indian J Pediatr. 1997 Sep-Oct;64(5):705-9. doi: 10.1007/BF02726130. Indian J Pediatr. 1997. PMID: 10771906 No abstract available.
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E. Mierzewska H, et al. Folia Neuropathol. 2016;54(1):59-65. doi: 10.5114/fn.2016.58916. Folia Neuropathol. 2016. PMID: 27179222 Free article.
DNA samples from 68 patients suspected of PMD due to the clinical course and hypomyelination at magnetic resonance imaging (MRI) were analyzed. Medical history and detailed clinical course of PMD patients were also analyzed. Different mutations of the PLP1 gene were …
DNA samples from 68 patients suspected of PMD due to the clinical course and hypomyelination at magnetic resonance imaging (MRI) were …
Clinical findings in Pelizaeus-Merzbacher disease.
Golomb MR, Walsh LE, Carvalho KS, Christensen CK, DeMyer WE. Golomb MR, et al. J Child Neurol. 2004 May;19(5):328-31. doi: 10.1177/088307380401900504. J Child Neurol. 2004. PMID: 15224705
Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype....
Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype....
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E. Lossos A, et al. Brain. 2015 Sep;138(Pt 9):2521-36. doi: 10.1093/brain/awv204. Epub 2015 Jul 15. Brain. 2015. PMID: 26179919 Free PMC article.
This gene, previously associated with hereditary spastic paraplegia, encodes myelin-associated glycoprotein, which is involved in myelin maintenance and glia-axon interaction. This mutation is predicted to destabilize the protein and affect its tertiary structure. ...
This gene, previously associated with hereditary spastic paraplegia, encodes myelin-associated glycoprotein, which is involved in myelin mai …
Electrodiagnosis in paediatric ophthalmogenetics.
Apkarian P. Apkarian P. Int J Psychophysiol. 1994 May;16(2-3):229-43. doi: 10.1016/0167-8760(89)90050-0. Int J Psychophysiol. 1994. PMID: 8089042 Free article. Review.
The non-invasive electrophysiological assessment of visual function and its maturational course also provides early identification of affected family members as well as an objective measure of various treatment regimes which, particularly for the pre-verbal and non-verbal …
The non-invasive electrophysiological assessment of visual function and its maturational course also provides early identification of …
Pelizaeus-Merzbacher disease: classical or connatal?
Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM. Scheffer IE, et al. Neuropediatrics. 1991 May;22(2):71-8. doi: 10.1055/s-2008-1071420. Neuropediatrics. 1991. PMID: 1857497
By contrast, in the classical form of PMD, cerebellar signs and cognitive deterioration are more prominent with a more slowly progressive course. Nuclear magnetic resonance imaging and brainstem auditory evoked potentials were very helpful in supporting the diagnosis of PM …
By contrast, in the classical form of PMD, cerebellar signs and cognitive deterioration are more prominent with a more slowly progressive …
71 results