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

Year Number of Results
2000 5
2001 2
2002 2
2003 1
2004 6
2005 4
2006 4
2007 11
2008 7
2009 2
2010 1
2011 1
2012 2
2013 1
2014 1
2015 2
2016 2
2017 3
2018 2
2019 4
2020 5
2021 1
2022 2
2023 4
2024 3

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64 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 …
CAG repeat disorder models and human neuropathology: similarities and differences.
Yamada M, Sato T, Tsuji S, Takahashi H. Yamada M, et al. Acta Neuropathol. 2008 Jan;115(1):71-86. doi: 10.1007/s00401-007-0287-5. Epub 2007 Sep 5. Acta Neuropathol. 2008. PMID: 17786457 Review.
In addition, no model has yet successfully reproduced the specific neuronal loss observed in humans. Although there are no models that fully represent the neuropathologic changes present in humans, the data obtained have provided evidence that clinical onset is not clearly …
In addition, no model has yet successfully reproduced the specific neuronal loss observed in humans. Although there are no models tha …
What the Gut Tells the Brain-Is There a Link between Microbiota and Huntington's Disease?
Wronka D, Karlik A, Misiorek JO, Przybyl L. Wronka D, et al. Int J Mol Sci. 2023 Feb 24;24(5):4477. doi: 10.3390/ijms24054477. Int J Mol Sci. 2023. PMID: 36901907 Free PMC article. Review.
Several studies have aimed so far to screen the microbiota composition in mouse models of HD and find out whether observed microbiome dysbiosis could affect the functions of the HD brain. ...
Several studies have aimed so far to screen the microbiota composition in mouse models of HD and find out whether observed microbiome …
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 …
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 …
DNA repair in neural cells: basic science and clinical implications.
Brooks PJ. Brooks PJ. Mutat Res. 2002 Nov 30;509(1-2):93-108. doi: 10.1016/s0027-5107(02)00222-1. Mutat Res. 2002. PMID: 12427533 Review.
The importance of DNA repair to the nervous system is most graphically illustrated by the neurological abnormalities observed in patients with hereditary diseases associated with defects in DNA repair. ...I will also propose a mechanism for one of the observations i …
The importance of DNA repair to the nervous system is most graphically illustrated by the neurological abnormalities observed in pati …
New findings in facial-onset sensory and motor neuronopathy (FOSMN) syndrome.
Pinto WBVR, Naylor FGM, Chieia MAT, de Souza PVS, Oliveira ASB. Pinto WBVR, et al. Rev Neurol (Paris). 2019 Apr;175(4):238-246. doi: 10.1016/j.neurol.2018.04.010. Epub 2018 Oct 5. Rev Neurol (Paris). 2019. PMID: 30293881
Thus, our case series has revealed new findings regarding FOSMN syndrome: (i) its clinical course is not always benign, with poorer prognoses associated with dropped-head syndrome and early bulbar compromise; (ii) FOSMN syndrome may be part of a complex familial neurodegenerative …
Thus, our case series has revealed new findings regarding FOSMN syndrome: (i) its clinical course is not always benign, with poorer prognose …
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.
INTERPRETATION: TBCKE is a clinically distinguishable syndrome with progressive central and peripheral nervous system dysfunction, consistently observed in patients with the p.R126X mutation. We provide evidence that inappropriate autophagy in the absence of cellular stres …
INTERPRETATION: TBCKE is a clinically distinguishable syndrome with progressive central and peripheral nervous system dysfunction, consisten …
64 results