Human Genome Epidemiology Literature Finder
Rare Diseases
|
Records 1 - 13 (of 13 Records) |
| Query Trace: Nemaline Myopathy[original query] |
|---|
| Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology 2002 Aug 59 (4): 613-7. Wattanasirichaigoon D, Swoboda K J, Takada F, Tong H-Q, Lip V, Iannaccone S T, Wallgren-Pettersson C, Laing N G, Beggs A |
| Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. Neuromuscular disorders : NMD 2014 Apr 24 (4): 325-30. Citirak Gülsenay, Witting Nanna, Duno Morten, Werlauff Ulla, Petri Helle, Vissing Jo |
| Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. Journal of human genetics 2016 Jun . Kitamura Yuri, Kondo Eri, Urano Mari, Aoki Ryoko, Saito Kayo |
| New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Journal of molecular neuroscience : MN 2016 Apr . Piga Daniela, Magri Francesca, Ronchi Dario, Corti Stefania, Cassandrini Denise, Mercuri Eugenio, Tasca Giorgio, Bertini Enrico, Fattori Fabiana, Toscano Antonio, Messina Sonia, Moroni Isabella, Mora Marina, Moggio Maurizio, Colombo Irene, Giugliano Teresa, Pane Marika, Fiorillo Chiara, D'Amico Adele, Bruno Claudio, Nigro Vincenzo, Bresolin Nereo, Comi Giacomo Piet |
| Rapid Targeted Genomics in Critically Ill Newborns. Pediatrics 2017 9 140 (4): . van Diemen Cleo C, Kerstjens-Frederikse Wilhelmina S, Bergman Klasien A, de Koning Tom J, Sikkema-Raddatz Birgit, van der Velde Joeri K, Abbott Kristin M, Herkert Johanna C, Löhner Katharina, Rump Patrick, Meems-Veldhuis Martine T, Neerincx Pieter B T, Jongbloed Jan D H, van Ravenswaaij-Arts Conny M, Swertz Morris A, Sinke Richard J, van Langen Irene M, Wijmenga Cis |
| Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. Pediatric neurology 2017 8 75 11-16. Moreno Cristiane de Araújo Martins, Abath Neto Osório, Donkervoort Sandra, Hu Ying, Reed Umbertina Conti, Oliveira Acary Sousa Bulle, Bönnemann Carsten, Zanoteli Edm |
| Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. Journal of the neurological sciences 2017 12 383 61-68. Lee Jong-Mok, Lim Jeong Geun, Shin Jin-Hong, Park Young-Eun, Kim Dae-Seo |
| An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders. Journal of neuromuscular diseases 2018 7 5 (3): 307-314. Sagath Lydia, Lehtokari Vilma-Lotta, Välipakka Salla, Udd Bjarne, Wallgren-Pettersson Carina, Pelin Katarina, Kiiski Kir |
| New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. PloS one 2018 12 13 (12): e0207296. Moreau-Le Lan Sarah, Aller Elena, Calabria Ines, Gonzalez-Tarancon Lola, Cardona-Gay Cristina, Martinez-Matilla Marina, Aparisi Maria J, Selles Jorge, Sagath Lydia, Pitarch Inmaculada, Muelas Nuria, Cervera Jose V, Millan Jose M, Pedrola La |
| Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. Clinical genetics 2020 Mar . Wang Qi, Hu Zhenxian, Chang Xingzhi, Yu Meng, Xie Zhiying, Lv He, Zhang Wei, Xiong Hui, Yuan Yun, Wang Zhaox |
| Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center. Acta neurologica Belgica 2023 7 . Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqi |
| Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. European journal of human genetics : EJHG 2023 7 . Alireza Haghighi, Zahra Alvandi, Yalda Nilipour, Amirreza Haghighi, Ruth Kornreich, Shahriar Nafissi, Robert J Desni |
| Muscle magnetic resonance imaging involvement patterns in nemaline myopathies. Annals of clinical and translational neurology 2023 6 . Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarko |
- Page last reviewed:Feb 1, 2024
- Content source: