日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells.

Hnrnpl 缺陷对发育中肌肉细胞转录模式的影响。

Littel Hannah R, Gunasekaran Mekala, Daugherty Audrey L, Wells Natalya M, Turner Johnnie, Bruels Christine C, Pacak Christina A, Draper Isabelle, Kang Peter B

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

HMG CoA还原酶(HMGCR)缺乏对骨骼肌发育的影响

Gunasekaran Mekala, Littel Hannah R, Wells Natalya M, Turner Johnnie, Campos Gloriana, Venigalla Sree, Estrella Elicia A, Ghosh Partha S, Daugherty Audrey L, Stafki Seth A, Kunkel Louis M, Foley A Reghan, Donkervoort Sandra, Bönnemann Carsten G, Toledo-Bravo de Laguna Laura, Nascimento Andres, Natera-de Benito Daniel, Draper Isabelle, Bruels Christine C, Pacak Christina A, Kang Peter B

Missense variants in TUBA4A cause myo-tubulinopathies

TUBA4A基因的错义变异会导致肌微管病

Johari, Mridul; Folland, Chiara; Saito, Yoshihiko; Oud, Machteld M; Parmar, Jevin M; Töpf, Ana; Kurbatov, Sergei; Ampleeva, Maria; Zakharova, Ekaterina Y; Chekmareva, Irina A; Shirokova, Ksenia S; Atiakshin, Dmitrii; Gardeitchik, Thatjana; Kamsteeg, Erik-Jan; Medici, Evita; Kaat, Laura Donker; Bruels, Christine C; Stafki, Seth A; Estrella, Elicia A; Littel, Hannah R; Kunkel, Louis M; Kang, Peter B; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Leary, Melaine; Austin-Tse, Christina; O'Donnell-Luria, Anne; Mangilog, Brian; Radio, Francesca Clementina; D'Amico, Adele; Ciolfi, Andrea; Tartaglia, Marco; Perrin, Aurélien; Van Goethem, Charles; Sole, Guilhem; Martin-Négrier, Marie-Laure; Cossée, Mireille; Genetti, Casie A; Valivullah, Zaheer M; Milic, Vedrana; Kovacevic, Gordana; Kosac, Ana; Moreno, Cristiane A M; Camelo, Clara Gontijo; Zanoteli, Edmar; Fahey, Michael C; Beggs, Alan H; Vissing, John; Straub, Volker; Savarese, Marco; Tasca, Giorgio; Voermans, Nicol; Laing, Nigel G; Udd, Bjarne; Nishino, Ichizo; Ravenscroft, Gianina

Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome

科凯恩综合征的认知衰退和其他晚期神经系统并发症

Rajamani, Geetanjali; Stafki, Seth A; Daugherty, Audrey L; Mantyh, William G; Littel, Hannah R; Bruels, Christine C; Pacak, Christina A; Robbins, Paul D; Niedernhofer, Laura J; Abiona, Adesoji; Giunti, Paola; Mohammed, Shehla; Laugel, Vincent; Kang, Peter B

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy

青少年发病型肌病中显性终止密码子HNRNPA1变异

Turner, Johnnie; Bruels, Christine C; Daugherty, Audrey L; Estrella, Elicia A; Stafki, Seth; Syeda, Safoora B; Littel, Hannah R; Pais, Lynn; Ganesh, Vijay S; Lidov, Hart G W; Paine, Simon M L; Maddison, Paul; Harrison, Rachel E; Straub, Volker; Ghosh, Partha S; Pacak, Christina A; Kunkel, Louis M; Draper, Isabelle; Topf, Ana; Kang, Peter B

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

HMGCR基因的双等位基因变异会导致常染色体隐性遗传的进行性肢带型肌营养不良症。

Morales-Rosado, Joel A; Schwab, Tanya L; Macklin-Mantia, Sarah K; Foley, A Reghan; Pinto E Vairo, Filippo; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A; Boyum, Grace E; Hu, Ying; Cong, Anh T Q; Lotze, Timothy E; Mohila, Carrie A; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R; Grunseich, Christopher; Bruels, Christine C; Littel, Hannah R; Estrella, Elicia A; Pais, Lynn; Kang, Peter B; Zimmermann, Michael T; Lupski, James R; Lee, Brendan; Schellenberg, Matthew J; Clark, Karl J; Wierenga, Klaas J; Bönnemann, Carsten G; Klee, Eric W

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

MORC2相关疾病谱:与科凯恩综合征的潜在联系

Stafki, Seth A; Turner, Johnnie; Littel, Hannah R; Bruels, Christine C; Truong, Don; Knirsch, Ursula; Stettner, Georg M; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina A; Hughes, Jayne; Mirchi, Amytice; Derksen, Alexa; Vincent-Delorme, Catherine; Theil, Arjan F; Bernard, Geneviève; Ellis, David; Fassihi, Hiva; Lehmann, Alan R; Laugel, Vincent; Mohammed, Shehla; Kang, Peter B

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy

纳米孔长读长测序在肌营养不良症诊断中的能力

Bruels, Christine C; Littel, Hannah R; Daugherty, Audrey L; Stafki, Seth; Estrella, Elicia A; McGaughy, Emily S; Truong, Don; Badalamenti, Jonathan P; Pais, Lynn; Ganesh, Vijay S; O'Donnell-Luria, Anne; Stalker, Heather J; Wang, Yang; Collins, Christin; Behlmann, Andrea; Lemmers, Richard J L F; van der Maarel, Silvère M; Laine, Regina; Ghosh, Partha S; Darras, Basil T; Zingariello, Carla D; Pacak, Christina A; Kunkel, Louis M; Kang, Peter B