Articles with public access mandates - Naomichi MatsumotoLearn more
Not available anywhere: 13
Review
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
K Nakamura, M Kato, H Osaka, S Yamashita, E Nakagawa, K Haginoya, ...
Neurology 81 (11), 992-998, 2013
Mandates: US National Institutes of Health
Review
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features
M Kato, H Saitsu, Y Murakami, K Kikuchi, S Watanabe, M Iai, K Miya, ...
Neurology 82 (18), 1587-1596, 2014
Mandates: US National Institutes of Health
Review
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation
H Kodera, N Ando, I Yuasa, Y Wada, Y Tsurusaki, M Nakashima, ...
Clinical genetics 87 (5), 455-460, 2015
Mandates: US National Institutes of Health
Review
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit‐Robo Rho GTPase activating protein 2 (SRGAP2)
H Saitsu, H Osaka, S Sugiyama, K Kurosawa, T Mizuguchi, K Nishiyama, ...
American Journal of Medical Genetics Part A 158 (1), 199-205, 2012
Mandates: US National Institutes of Health
Review
Homozygous p. V116* mutation in C12orf65 results in Leigh syndrome
E Imagawa, A Fattal-Valevski, O Eyal, S Miyatake, A Saada, M Nakashima, ...
Journal of Neurology, Neurosurgery & Psychiatry 87 (2), 212-216, 2016
Mandates: US National Institutes of Health
Review
New Facile Synthesis of 3, 4-Dihydroquinazoline-2 (1H)-thiones by a Sequential Ugi-Azide/Staudinger/Aza-Wittig/Cyclization Reaction
J Xiong, Q Min, G Yao, JA Zhang, HF Yu, MW Ding
Synlett 30 (09), 1053-1056, 2019
Mandates: National Natural Science Foundation of China
Review
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
NB Tan, AT Pagnamenta, MP Ferla, J Gadian, BHY Chung, MCY Chan, ...
Journal of Medical Genetics 59 (5), 511-516, 2022
Mandates: US National Institutes of Health, National Health and Medical Research …
Review
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification
G Ürel-Demir, PO Simsek-Kiper, Ö Akgün-Doğan, R Göçmen, Z Wang, ...
Journal of Human Genetics 63 (9), 1003-1007, 2018
Mandates: National Natural Science Foundation of China
Review
Molecular diagnosis of 405 individuals with autism spectrum disorder
N Miyake, Y Tsurusaki, R Fukai, I Kushima, N Okamoto, K Ohashi, ...
European Journal of Human Genetics, 1-8, 2023
Mandates: Wellcome Trust
Review
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
A Malhotra, A Ziegler, L Shu, R Perrier, L Amlie-Wolf, E Wohler, ...
Journal of medical genetics 58 (10), 712-716, 2021
Mandates: US National Institutes of Health
Review
COG1‐congenital disorders of glycosylation: milder presentation and review
M Salazar, N Miyake, S Silva, B Solar, GM Papazoglu, CG Asteggiano, ...
Clinical Genetics 100 (3), 318-323, 2021
Mandates: Government of Argentina
Review
Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1‐RUNX1T1 transcripts
K Sasaki, S Tsujimoto, M Miyake, Y Uchiyama, J Ikeda, M Yoshitomi, ...
British Journal of Haematology 194 (2), 414-422, 2021
Mandates: US National Institutes of Health
Review
A de novo loss-of-function mutation in PAFAH1B1 identified in a single case with agyria–pachygyria complex
Y Ou, B Xiang, L Yang, W Chen, X Chen, T Cai
Journal of Pediatric Neurology 18 (01), 033-038, 2020
Mandates: US National Institutes of Health
Available somewhere: 96
Review
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
Mandates: Swiss National Science Foundation, US National Institutes of Health, US …
Review
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ...
Nature genetics 42 (9), 790-793, 2010
Mandates: US National Institutes of Health
Review
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
MC Hannibal, KJ Buckingham, SB Ng, JE Ming, AE Beck, MJ McMillin, ...
American Journal of Medical Genetics Part A 155 (7), 1511-1516, 2011
Mandates: US National Institutes of Health
Review
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
G Ravenscroft, S Miyatake, VL Lehtokari, EJ Todd, P Vornanen, KS Yau, ...
The American Journal of Human Genetics 93 (1), 6-18, 2013
Mandates: US National Institutes of Health, National Health and Medical Research …
Review
Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
VA Gupta, G Ravenscroft, R Shaheen, EJ Todd, LC Swanson, M Shiina, ...
The American Journal of Human Genetics 93 (6), 1108-1117, 2013
Mandates: US National Institutes of Health, National Health and Medical Research …
Review
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ...
Neuron 106 (3), 404-420. e8, 2020
Mandates: Swiss National Science Foundation, US National Institutes of Health …
Review
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
M Nakajima, S Mizumoto, N Miyake, R Kogawa, A Iida, H Ito, H Kitoh, ...
The American Journal of Human Genetics 92 (6), 927-934, 2013
Mandates: Swiss National Science Foundation
Publication and funding information is determined automatically by a computer program