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

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

由SLC12A6变异引起的显性夏科-马里-图斯病谱

Record, Christopher J; Grider, Tiffany; Rebelo, Adriana P; Laurini, Christian; Skorupinska, Mariola; Danzi, Matt C; Poh, Roy; Tomaselli, Pedro J; Frezatti, Rodrigo S; Dominik, Natalia; Grosz, Bianca; Ellis, Melina; Kumar, Kishore R; Harms, Matthew B; Weihl, Conrad C; Marques Júnior, Wilson; Claeys, Kristl G; Blake, Julian C; Holt, James Kl; Weber, Astrid; Jacobson, Ryan; Dineen, Richard T; Falzone, Yuri M; Previtali, Stefano C; Menezes, Manoj P; Vucic, Steve; Laura, Matilde; Kennerson, Marina L; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

ITPR3 中的一种复发性错义变异会导致脱髓鞘性夏科-马里-图斯病,严重程度不一

Beijer Danique, Dohrn Maike F, Rebelo Adriana, Danzi Matt C, Grosz Bianca Rose, Ellis Melina, Kumar Kishore R, Vucic Steve, Vais Horia, Weissenrieder Jillian S, Lunko Olesia, Paudel Usha, Simpson Leah C, Camarena Vladimir, Raposo Jacquelyn, Saporta Mario, Arcia Yeisha, Xu Isaac, Feely Shawna, Record Christopher J, Blake Julian, Reilly Mary M, Scherer Steven S, Kennerson Marina, Lee Yi-Chung, Foskett J Kevin, Shy Michael E, Zuchner Stephan

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype

PIGG基因隐性变异导致运动神经病,伴有可变传导阻滞、儿童震颤和热性惊厥:扩展表型

Record, Christopher J; O'Connor, Antoinette; Verbeek, Nienke E; van Rheenen, Wouter; Zamba Papanicolaou, Eleni; Peric, Stojan; Ligthart, Peter C; Skorupinska, Mariola; van Binsbergen, Ellen; Campeau, Philippe M; Ivanovic, Vukan; Hennigan, Brian; McHugh, John C; Blake, Julian C; Murakami, Yoshiko; Laura, Matilde; Murphy, Sinéad M; Reilly, Mary M

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13

与肌管蛋白相关蛋白2和13突变相关的夏科-马里-图斯病4B型(CMT4B)的疾病进展

Bertini, Alessandro; Reilly, Mary M; Pisciotta, Chiara; Previtali, Stefano C; Parman, Yesim; Battaloglu, Esra; Laurà, Matilde; Blake, Julian; Sacconi, Sabrina; Attarian, Shahram; Stojkovic, Tanya; Bellatache, Mounia; Nouioua, Sonia; Tazir, Meriem; Cakar, Arman; Gambardella, Antonio; Valentino, Paola; Lewis, Richard A; Horvath, Rita; Zambon, Alberto A; Sabatelli, Mario; Luigetti, Marco; Tozza, Stefano; Manganelli, Fiore; Herrmann, David N; Scherer, Steven S; Kressin, Nicole; Ward, Kailee; Bolino, Alessandra; Shy, Michael E; Pareyson, Davide

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy

PNPT1杂合变异导致感觉性共济失调神经病

Haddad, Saif; Record, Christopher J; Self, Eleanor; Skorupinska, Mariola; Rossor, Alexander M; Laura, Matilde; Ingle, Gordon; Manzur, Adnan; Muntoni, Francesco; Blake, Julian C; Reilly, Mary M

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome

ITPR1基因缺失与感觉性共济失调神经病和干燥综合征患者相关

Haddad, Saif; Poh, Roy; Hehir, Jason; Polke, James M; Blake, Julian; Reilly, Mary M

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

全基因组测序提高了夏科-马里-图斯病的诊断率

Record, Christopher J; Pipis, Menelaos; Skorupinska, Mariola; Blake, Julian; Poh, Roy; Polke, James M; Eggleton, Kelly; Nanji, Tina; Zuchner, Stephan; Cortese, Andrea; Houlden, Henry; Rossor, Alexander M; Laura, Matilde; Reilly, Mary M

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts

α-B-晶状体蛋白的突变会导致常染色体显性遗传的轴索型夏科-马里-图斯病,并伴有先天性白内障。

Cortese, Andrea; Currò, Riccardo; Ronco, Riccardo; Blake, Julian; Rossor, Alex M; Bugiardini, Enrico; Laurà, Matilde; Warner, Tom; Yousry, Tarek; Poh, Roy; Polke, James; Rebelo, Adriana; Dohrn, Maike F; Saporta, Mario; Houlden, Henry; Zuchner, Stephan; Reilly, Mary M

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A

两例夏科-马里-图斯病1A型患者的中度传导速度

Tomaselli, Pedro José; Blake, Julian; Polke, James M; do Nascimento, Osvaldo José Moreira; Reilly, Mary M; Marques Júnior, Wilson; Laurá, Matilde

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

由NEFH基因变异引起的2CC型夏科-马里-图斯病会导致进行性、非长度依赖性、以运动障碍为主的表型。

Pipis, Menelaos; Cortese, Andrea; Polke, James M; Poh, Roy; Vandrovcova, Jana; Laura, Matilde; Skorupinska, Mariola; Jacquier, Arnaud; Juntas-Morales, Raul; Latour, Philippe; Petiot, Philippe; Sole, Guilhem; Fromes, Yves; Shah, Sachit; Blake, Julian; Choi, Byung-Ok; Chung, Ki Wha; Stojkovic, Tanya; Rossor, Alexander M; Reilly, Mary M