受强制性开放获取政策约束的文章 - Simone Mandelstam了解详情
无法在其他位置公开访问的文章：6 篇
Fatal cerebral edema with status epilepticus in children with Dravet syndrome: report of 5 cases
KA Myers, JM McMahon, SA Mandelstam, MT Mackay, RM Kalnins, ...
Pediatrics 139 (4), 2017
强制性开放获取政策： National Health and Medical Research Council, Australia
Periventricular nodular heterotopia: detection of abnormal microanatomic fiber structures with whole-brain diffusion MR imaging tractography
S Farquharson, JD Tournier, F Calamante, S Mandelstam, R Burgess, ...
Radiology 281 (3), 896-906, 2016
强制性开放获取政策： Australian Research Council, National Health and Medical Research Council …
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia
E Macdonald-Laurs, AEL Warren, P Francis, SA Mandelstam, WS Lee, ...
Brain 147 (4), 1264-1277, 2024
强制性开放获取政策： National Health and Medical Research Council, Australia
Resection of tuber centers only for seizure control in tuberous sclerosis complex
SEM Stephenson, WJ Maixner, SM Barton, C D’Arcy, SA Mandelstam, ...
Epilepsy Research 171, 106572, 2021
强制性开放获取政策： National Health and Medical Research Council, Australia
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
S Kiss, J Christodoulou, DR Thorburn, JL Freeman, AJ Kornberg, ...
American Journal of Medical Genetics Part A 191 (6), 1599-1606, 2023
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay
KA Myers, MF Bennett, CW Chow, SM Carden, SA Mandelstam, M Bahlo, ...
American journal of medical genetics Part A 176 (1), 230-234, 2018
强制性开放获取政策： US Department of Defense, US National Institutes of Health, National Health …
可在其他位置公开访问的文章：48 篇
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
S Weckhuysen, S Mandelstam, A Suls, D Audenaert, T Deconinck, ...
Annals of neurology 71 (1), 15-25, 2012
强制性开放获取政策： Research Foundation (Flanders)
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
RJ Leventer, A Jansen, DT Pilz, N Stoodley, C Marini, F Dubeau, ...
Brain 133 (5), 1415-1427, 2010
强制性开放获取政策： US National Institutes of Health
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
IE Scheffer, SE Heron, BM Regan, S Mandelstam, DE Crompton, ...
Annals of neurology 75 (5), 782-787, 2014
强制性开放获取政策： Australian Research Council, National Health and Medical Research Council …
Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
G Orhan, M Bock, D Schepers, EI Ilina, SN Reichel, H Löffler, N Jezutkovic, ...
Annals of neurology 75 (3), 382-394, 2014
强制性开放获取政策： Research Foundation (Flanders), German Research Foundation
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures
KB Howell, JM McMahon, GL Carvill, D Tambunan, MT Mackay, ...
Neurology 85 (11), 958-966, 2015
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ...
Neurology 81 (19), 1697-1703, 2013
强制性开放获取政策： National Health and Medical Research Council, Australia, Research Foundation …
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
JC Sim, T Scerri, M Fanjul‐Fernández, JR Riseley, G Gillies, K Pope, ...
Annals of neurology 79 (1), 132-137, 2016
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ...
Brain 140 (6), 1595-1610, 2017
强制性开放获取政策： National Health and Medical Research Council, Australia, Netherlands …
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ...
Neurology 89 (10), 1035-1042, 2017
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy
DT Pederick, KL Richards, SG Piltz, R Kumar, S Mincheva-Tasheva, ...
Neuron 97 (1), 59-66. e5, 2018
强制性开放获取政策： National Health and Medical Research Council, Australia
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
KB Howell, S Eggers, K Dalziel, J Riseley, S Mandelstam, CT Myers, ...
Epilepsia 59 (6), 1177-1187, 2018
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
T Scerri, JR Riseley, G Gillies, K Pope, R Burgess, SA Mandelstam, ...
Annals of clinical and translational neurology 2 (5), 575-580, 2015
强制性开放获取政策： US National Institutes of Health, Australian Research Council, National …
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
RH Thomas, LM Zhang, GL Carvill, JS Archer, SB Heavin, ...
Neurology 84 (9), 951-958, 2015
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
APL Marsh, D Heron, TJ Edwards, A Quartier, C Galea, C Nava, ...
Nature genetics 49 (4), 511-514, 2017
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
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