@article{MTMT:31122140,
	title = {The Hungarian Twin Registry Update: Turning From a Voluntary to a Population-Based Registry},
	url = {https://m2.mtmt.hu/api/publication/31122140},
	author = {Tárnoki, Ádám Domonkos and Tárnoki, Dávid László and Forgó, Bianka and Szabó, Helga and Melicher, Dóra and Metneki, Julia and Littvay, Levente},
	doi = {10.1017/thg.2019.100},
	journal-iso = {TWIN RES HUM GENET},
	journal = {TWIN RESEARCH AND HUMAN GENETICS},
	volume = {22},
	unique-id = {31122140},
	issn = {1832-4274},
	year = {2019},
	eissn = {1839-2628},
	pages = {561-566},
	orcid-numbers = {Tárnoki, Ádám Domonkos/0000-0001-5909-3780; Tárnoki, Dávid László/0000-0002-7001-7647; Melicher, Dóra/0000-0003-4848-1424; Littvay, Levente/0000-0003-2022-6886}
}

@article{MTMT:35461286,
	title = {Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome. a cortical variant},
	url = {https://m2.mtmt.hu/api/publication/35461286},
	author = {Ling, H. and de, Silva R. and Massey, L. A. and Courtney, R. and Hondhamuni, G. and Bajaj, N. and Lowe, J. and Holton, J. L. and Lees, A. and Révész, Tamás},
	doi = {10.1111/nan.12037},
	journal-iso = {NEUROPATH APPL NEURO},
	journal = {NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY},
	volume = {40},
	unique-id = {35461286},
	issn = {0305-1846},
	abstract = {AimsSince the first description of the classical presentation of progressive supranuclear palsy (PSP) in 1963, now known as Richardson's syndrome (PSP-RS), several distinct clinical syndromes have been associated with PSP-tau pathology. Like other neurodegenerative disorders, the severity and distribution of phosphorylated tau pathology are closely associated with the clinical heterogeneity of PSP variants. PSP with corticobasal syndrome presentation (PSP-CBS) was reported to have more tau load in the mid-frontal and inferior-parietal cortices than in PSP-RS. However, it is uncertain if differences exist in the distribution of tau pathology in other brain regions or if the overall tau load is increased in the brains of PSP-CBS. MethodsWe sought to compare the clinical and pathological features of PSP-CBS and PSP-RS including quantitative assessment of tau load in 15 cortical, basal ganglia and cerebellar regions. ResultsIn addition to the similar age of onset and disease duration, we demonstrated that the overall severity of tau pathology was the same between PSP-CBS and PSP-RS. We identified that there was a shift of tau burden towards the cortical regions away from the basal ganglia; supporting the notion that PSP-CBS is a cortical' PSP variant. PSP-CBS also had less severe neuronal loss in the dorsolateral and ventrolateral subregions of the substantia nigra and more severe microglial response in the corticospinal tract than in PSP-RS; however, neuronal loss in subthalamic nucleus was equally severe in both groups. ConclusionsA better understanding of the factors that influence the selective pathological vulnerability in different PSP variants will provide further insights into the neurodegenerative process underlying tauopathies.},
	keywords = {ALZHEIMERS-DISEASE; PARKINSONS-DISEASE; DEGENERATION; MONOCLONAL-ANTIBODIES; Neurosciences; PROGRESSIVE SUPRANUCLEAR PALSY; FRONTOTEMPORAL DEMENTIA; Clinical Neurology; Tau pathology; PAIRED HELICAL FILAMENTS; Corticobasal syndrome; Richardson's syndrome; NINDS NEUROPATHOLOGIC CRITERIA; RICHARDSONS-SYNDROME; Alien limb},
	year = {2014},
	eissn = {1365-2990},
	pages = {149-163}
}

@article{MTMT:35461306,
	title = {Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy},
	url = {https://m2.mtmt.hu/api/publication/35461306},
	author = {Massey, Luke A. and Micallef, Caroline and Paviour, Dominic C. and O'Sullivan, Sean S. and Ling, Helen and Williams, David R. and Kallis, Constantinos and Holton, Janice L. and Révész, Tamás and Burn, David J. and Yousry, Tarek and Lees, Andrew J. and Fox, Nick C. and Jaeger, Hans R.},
	doi = {10.1002/mds.24968},
	journal-iso = {MOVEMENT DISORD},
	journal = {MOVEMENT DISORDERS},
	volume = {27},
	unique-id = {35461306},
	issn = {0885-3185},
	abstract = {Conventional magnetic resonance imaging (cMRI) is often used to aid the diagnosis of progressive supranuclear palsy (PSP) and multiple system atrophy (MSA), but its ability to predict the histopathological diagnosis has not been systematically studied. cMRI from 48 neuropathologically confirmed cases, including PSP (n = 22), MSA (n = 13), Parkinson's disease (PD) (n = 7), and corticobasal degeneration (n = 6), and controls (n = 9) were assessed blinded to clinical details and systematically rated for reported abnormalities. Clinical diagnosis and macroscopic postmortem findings were retrospectively assessed. Radiological assessment of MRI was correct in 16 of 22 (72.7%) PSP cases and 10 of 13 (76.9%) MSA cases with substantial interrater agreement (Cohen's kappa 0.708; P < .001); no PSP case was misclassified as MSA or vice versa. MRI was less sensitive but more specific than clinical diagnosis in PSP and both more sensitive and specific than clinical diagnosis in MSA. The "hummingbird" and "morning glory" signs were highly specific for PSP, and "the middle cerebellar peduncle sign" and "hot cross bun" for MSA, but sensitivity was lower (up to 68.4%) and characteristic findings may not be present even at autopsy. cMRI, clinical diagnosis, and macroscopic examination at postmortem have similar sensitivity and specificity in predicting a neuropathological diagnosis. We have validated specific radiological signs in pathologically confirmed PSP and MSA. However, the low sensitivity of these and macroscopic findings at autopsy suggest a need for imaging techniques sensitive to microstructural abnormalities without regional atrophy. (C) 2012 Movement Disorder Society},
	keywords = {accuracy; DIFFERENTIAL-DIAGNOSIS; MSA; PROGRESSIVE SUPRANUCLEAR PALSY; Midbrain; PSP; PARKINSON-DISEASE; RICHARDSONS-SYNDROME; CROSS BUN SIGN; conventional MRI; pathological confirmation; ROUTINE MRI},
	year = {2012},
	eissn = {1531-8257},
	pages = {1755-1762},
	orcid-numbers = {Kallis, Constantinos/0000-0003-0866-5421; Burn, David J./0000-0001-7658-1209; Fox, Nick C./0000-0002-6660-657X}
}