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Quoted phrase not found in phrase index: "Parkinson disease 22, autosomal dominant"
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Plasma inflammation for predicting phenotypic conversion and clinical progression of autosomal dominant frontotemporal lobar degeneration.
Asken BM, Ljubenkov PA, Staffaroni AM, Casaletto KB, Vandevrede L, Cobigo Y, Rojas-Rodriguez JC, Rankin KP, Kornak J, Heuer H, Shigenaga J, Appleby BS, Bozoki AC, Domoto-Reilly K, Ghoshal N, Huey E, Litvan I, Masdeu JC, Mendez MF, Pascual B, Pressman P, Tartaglia MC, Kremers W, Forsberg LK, Boeve BF, Boxer AL, Rosen HJ, Kramer JH; ALLFTD Consortium Investigators. Asken BM, et al. J Neurol Neurosurg Psychiatry. 2023 Jul;94(7):541-549. doi: 10.1136/jnnp-2022-330866. Epub 2023 Mar 28. J Neurol Neurosurg Psychiatry. 2023. PMID: 36977552 Free PMC article.
BACKGROUND: Measuring systemic inflammatory markers may improve clinical prognosis and help identify targetable pathways for treatment in patients with autosomal dominant forms of frontotemporal lobar degeneration (FTLD). ...CONCLUSIONS: Systemic proinflammat …
BACKGROUND: Measuring systemic inflammatory markers may improve clinical prognosis and help identify targetable pathways for treatmen …
Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.
Smaili I, Tesson C, Regragui W, Bertrand H, Rahmani M, Bouslam N, Benomar A, Brice A, Lesage S, Bouhouche A. Smaili I, et al. J Mol Neurosci. 2021 Jan;71(1):142-152. doi: 10.1007/s12031-020-01635-3. Epub 2020 Jun 16. J Mol Neurosci. 2021. PMID: 32557143
In the past two decades, genetic studies of familial forms of Parkinson's disease (PD) have shown evidence that PD has a significant genetic component. ...Mutations in genes with dominant inheritance were found in 4/18 patients (22%)....
In the past two decades, genetic studies of familial forms of Parkinson's disease (PD) have shown evidence that PD has a signi …
A susceptibility locus for Parkinson's disease maps to chromosome 2p13.
Gasser T, Müller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD. Gasser T, et al. Nat Genet. 1998 Mar;18(3):262-5. doi: 10.1038/ng0398-262. Nat Genet. 1998. PMID: 9500549
Secondly, several family studies suggested autosomal-dominant inheritance of syndromes which, to variable degrees, resembled sporadic PD clinically and in some cases also neuropathologically. Recently, a disease locus has been mapped to chromosome 4q21-22 …
Secondly, several family studies suggested autosomal-dominant inheritance of syndromes which, to variable degrees, resembled s …
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Hsu SC, et al. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20. Neurogenetics. 2013. PMID: 23334463 Free PMC article.
Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. ...Twelve novel (nonsense, …
Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutation …
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P. Thevenon J, et al. Europace. 2017 Apr 1;19(4):651-659. doi: 10.1093/europace/euw067. Europace. 2017. PMID: 28431061
AIMS: Mutations in PRKAG2, the gene encoding for the gamma2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitati …
AIMS: Mutations in PRKAG2, the gene encoding for the gamma2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an aut …
Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification.
Yamamura Y, Hattori N, Matsumine H, Kuzuhara S, Mizuno Y. Yamamura Y, et al. Brain Dev. 2000 Sep;22 Suppl 1:S87-91. doi: 10.1016/s0387-7604(00)00130-3. Brain Dev. 2000. PMID: 10984666
Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF, syn. autosomal recessive juvenile parkinsonism, PARK2) is one of the hereditary parkinsonian syndromes. ...In AR-EPDF loss of newly discovered 'Parkin' protein is responsible for selecti …
Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF, syn. autosomal recessive juvenile parkinsonism …