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524 results

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Page 1
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
Licchetta L, Pippucci T, Bisulli F, Cantalupo G, Magini P, Alvisi L, Baldassari S, Martinelli P, Naldi I, Vanni N, Liguori R, Seri M, Tinuper P. Licchetta L, et al. Among authors: liguori r. Epilepsia. 2013 Jul;54(7):1298-306. doi: 10.1111/epi.12216. Epub 2013 May 11. Epilepsia. 2013. PMID: 23663087 Free article.
Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease.
Donadio V, Incensi A, Leta V, Giannoccaro MP, Scaglione C, Martinelli P, Capellari S, Avoni P, Baruzzi A, Liguori R. Donadio V, et al. Among authors: liguori r. Neurology. 2014 Apr 15;82(15):1362-9. doi: 10.1212/WNL.0000000000000316. Epub 2014 Mar 14. Neurology. 2014. PMID: 24634456
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.
Moghadam KK, Pizza F, Tonon C, Lodi R, Carelli V, Poli F, Franceschini C, Barboni P, Seri M, Ferrari S, La Morgia C, Testa C, Cornelio F, Liguori R, Winkelmann J, Lin L, Mignot E, Plazzi G. Moghadam KK, et al. Among authors: liguori r. Sleep Med. 2014 May;15(5):582-5. doi: 10.1016/j.sleep.2013.09.028. Epub 2014 Feb 12. Sleep Med. 2014. PMID: 24709307
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G. Moghadam KK, et al. Among authors: liguori r. Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10. Brain. 2014. PMID: 24727570 Free article.
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M. Pippucci T, et al. Among authors: liguori r. EMBO Mol Med. 2015 Jun;7(6):848-58. doi: 10.15252/emmm.201404399. EMBO Mol Med. 2015. PMID: 25870235 Free PMC article.
Intermittent head drops: the differential spectrum.
Antelmi E, Plazzi G, Erro R, Tinuper P, Balint B, Liguori R, Bhatia KP. Antelmi E, et al. Among authors: liguori r. J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):414-9. doi: 10.1136/jnnp-2015-310864. Epub 2015 Jun 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 26085650 Review.
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M. Panza E, et al. Among authors: liguori r. Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21. Brain. 2016. PMID: 26297558 No abstract available.
524 results