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

Year Number of Results
2000 6
2001 3
2002 1
2003 2
2004 7
2005 4
2006 2
2007 7
2008 4
2009 1
2010 4
2011 3
2012 3
2013 3
2014 2
2015 2
2016 2
2018 3
2019 3
2020 2
2023 2
2024 2

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57 results

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Page 1
Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
Klein CJ. Klein CJ. Continuum (Minneap Minn). 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. Continuum (Minneap Minn). 2020. PMID: 33003000 Review.
Neurologic evaluations, including neurophysiologic testing, can help diagnose and predict patient disabilities. Diagnosis is often complex, especially when genetic and acquired components overlap. ...
Neurologic evaluations, including neurophysiologic testing, can help diagnose and predict patient disabilities. Diagnosis is often co …
Clinical implications of neuropharmacogenetics.
Corvol JC, Devos D, Hulot JS, Lacomblez L. Corvol JC, et al. Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):482-97. doi: 10.1016/j.neurol.2015.04.003. Epub 2015 May 23. Rev Neurol (Paris). 2015. PMID: 26008819 Review.
The ultimate aim of pharmacogenetics is to move towards a personalised medicine by predicting responders and non-responders, adjusting the dose of the treatment, and identifying individuals at risk of adverse drug effects. ...CONCLUSION/DISCUSSION: Although several genetic …
The ultimate aim of pharmacogenetics is to move towards a personalised medicine by predicting responders and non-responders, adjustin …
Polyalanine expansions in human.
Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S. Amiel J, et al. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R235-43. doi: 10.1093/hmg/ddh251. Hum Mol Genet. 2004. PMID: 15358730 Review.
Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyal …
Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the ex …
Dysregulation of protein synthesis and disease.
Le Quesne JP, Spriggs KA, Bushell M, Willis AE. Le Quesne JP, et al. J Pathol. 2010 Jan;220(2):140-51. doi: 10.1002/path.2627. J Pathol. 2010. PMID: 19827082 Review.
Translational control is increasingly open for study in both fresh and fixed tissue, and this rapidly developing field is yielding useful diagnostic and prognostic tools that will hopefully provide new targets for effective treatments....
Translational control is increasingly open for study in both fresh and fixed tissue, and this rapidly developing field is yielding useful di …
Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies.
Pareyson D. Pareyson D. Neurol Sci. 2004 Jun;25(2):72-82. doi: 10.1007/s10072-004-0233-4. Neurol Sci. 2004. PMID: 15221625 Review.
However, the incredible advances in molecular genetics have greatly complicated the classification of these disorders, and the proper diagnosis of the CMT subtype may be important for correct genetic counselling and prognosis. Moreover, these diseases may be confused with …
However, the incredible advances in molecular genetics have greatly complicated the classification of these disorders, and the proper diagno …
Gaucher disease and the synucleinopathies: refining the relationship.
Campbell TN, Choy FY. Campbell TN, et al. Orphanet J Rare Dis. 2012 Jan 31;7:12. doi: 10.1186/1750-1172-7-12. Orphanet J Rare Dis. 2012. PMID: 22289779 Free PMC article. Review.
Though studies of genotype-to-phenotype correlations have revealed significant heterogeneity, some consistent patterns have emerged to inform prognostic and therapeutic decisions. Recent research has highlighted a potential role for Gaucher disease in other comorbidities s …
Though studies of genotype-to-phenotype correlations have revealed significant heterogeneity, some consistent patterns have emerged to infor …
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Ponka P. Ponka P. Ann N Y Acad Sci. 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022. Ann N Y Acad Sci. 2004. PMID: 15105272 Review.
The cardinal feature of this extrapyramidal disease is pathologic iron accumulation in the globus pallidus. The defect in PANK2 is predicted to cause the accumulation of cysteine, which binds iron and causes oxidative stress in the iron-rich globus pallidus. ...
The cardinal feature of this extrapyramidal disease is pathologic iron accumulation in the globus pallidus. The defect in PANK2 is predic …
Rare causes of hereditary iron overload.
Ponka P. Ponka P. Semin Hematol. 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. Semin Hematol. 2002. PMID: 12382200 Review.
The cardinal feature of this extrapyramidal disease is pathologic iron accumulation in the globus pallidus. The defect in PANK2 is predicted to cause the accumulation of cysteine, which binds iron and causes oxidative stress in the iron-rich globus pallidus....
The cardinal feature of this extrapyramidal disease is pathologic iron accumulation in the globus pallidus. The defect in PANK2 is predic …
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.
Here, we report the first systematic, large cohort study in FAHN/SPG35 and determine the phenotypic spectrum, define the disease course and identify clinical and imaging biomarkers....
Here, we report the first systematic, large cohort study in FAHN/SPG35 and determine the phenotypic spectrum, define the disease course …
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Ortiz-González XR, Tintos-Hernández JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW, Crino PB, He M, Wallace DC, Bönnemann CG. Ortiz-González XR, et al. Ann Neurol. 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130. Ann Neurol. 2018. PMID: 29283439 Free PMC article.
Given that mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a neurodegenerative course have defects in autophagic-lysosomal dysfunction. METHODS: Children (n = 8) of Puerto Rican (Boricua) descent affected with homozyg …
Given that mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a neurodegenerative co …
57 results