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

Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia

LDLR 5'UTR 中与家族性高胆固醇血症相关的新型起始密码子变异

Bird, Martin; Tung, Chris Jyun-Peng; Pittman, Alan M; Behr, Elijah R; Nohturfft, Axel; Futema, Marta

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study

英国一项大型基于人群的帕金森病研究中孟德尔突变的遗传分析

Tan, Manuela M X; Malek, Naveed; Lawton, Michael A; Hubbard, Leon; Pittman, Alan M; Joseph, Theresita; Hehir, Jason; Swallow, Diane M A; Grosset, Katherine A; Marrinan, Sarah L; Bajaj, Nin; Barker, Roger A; Burn, David J; Bresner, Catherine; Foltynie, Thomas; Hardy, John; Wood, Nicholas; Ben-Shlomo, Yoav; Grosset, Donald G; Williams, Nigel M; Morris, Huw R

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

常染色体显性遗传性视神经萎缩和白内障“附加”表型,包括轴突神经病变

Horga, Alejandro; Bugiardini, Enrico; Manole, Andreea; Bremner, Fion; Jaunmuktane, Zane; Dankwa, Lois; Rebelo, Adriana P; Woodward, Catherine E; Hargreaves, Iain P; Cortese, Andrea; Pittman, Alan M; Brandner, Sebastian; Polke, James M; Pitceathly, Robert D S; Züchner, Stephan; Hanna, Michael G; Scherer, Steven S; Houlden, Henry; Reilly, Mary M

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

帕金森病中LRRK2功能丧失变异的频率

Blauwendraat, Cornelis; Reed, Xylena; Kia, Demis A; Gan-Or, Ziv; Lesage, Suzanne; Pihlstrøm, Lasse; Guerreiro, Rita; Gibbs, J Raphael; Sabir, Marya; Ahmed, Sarah; Ding, Jinhui; Alcalay, Roy N; Hassin-Baer, Sharon; Pittman, Alan M; Brooks, Janet; Edsall, Connor; Hernandez, Dena G; Chung, Sun Ju; Goldwurm, Stefano; Toft, Mathias; Schulte, Claudia; Bras, Jose; Wood, Nicholas W; Brice, Alexis; Morris, Huw R; Scholz, Sonja W; Nalls, Mike A; Singleton, Andrew B; Cookson, Mark R

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

尚无充分证据表明SNCA His50Gln (H50Q)在帕金森病中具有致病性

Blauwendraat, Cornelis; Kia, Demis A; Pihlstrøm, Lasse; Gan-Or, Ziv; Lesage, Suzanne; Gibbs, J Raphael; Ding, Jinhui; Alcalay, Roy N; Hassin-Baer, Sharon; Pittman, Alan M; Brooks, Janet; Edsall, Connor; Chung, Sun Ju; Goldwurm, Stefano; Toft, Mathias; Schulte, Claudia; Hernandez, Dena; Singleton, Andrew B; Nalls, Mike A; Brice, Alexis; Scholz, Sonja W; Wood, Nicholas W

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

RNASEH1相关线粒体疾病的临床病理及分子谱

Bugiardini, Enrico; Poole, Olivia V; Manole, Andreea; Pittman, Alan M; Horga, Alejandro; Hargreaves, Iain; Woodward, Cathy E; Sweeney, Mary G; Holton, Janice L; Taanman, Jan-Willem; Plant, Gordon T; Poulton, Joanna; Zeviani, Massimo; Ghezzi, Daniele; Taylor, John; Smith, Conrad; Fratter, Carl; Kanikannan, Meena A; Paramasivam, Arumugam; Thangaraj, Kumarasamy; Spinazzola, Antonella; Holt, Ian J; Houlden, Henry; Hanna, Michael G; Pitceathly, Robert D S

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

HSPB1基因纯合突变导致远端空泡性肌病和运动神经病

Bugiardini, Enrico; Rossor, Alexander M; Lynch, David S; Swash, Michael; Pittman, Alan M; Blake, Julian C; Hanna, Michael G; Houlden, Henry; Holton, Janice L; Reilly, Mary M; Matthews, Emma

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

AP4M1相关遗传性痉挛性截瘫的基因型-表型相关性及分子谱的扩展

Bettencourt, Conceição; Salpietro, Vincenzo; Efthymiou, Stephanie; Chelban, Viorica; Hughes, Deborah; Pittman, Alan M; Federoff, Monica; Bourinaris, Thomas; Spilioti, Martha; Deretzi, Georgia; Kalantzakou, Triantafyllia; Houlden, Henry; Singleton, Andrew B; Xiromerisiou, Georgia

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

SQSTM1 和 VCP 基因的罕见变异与散发性包涵体肌炎的风险相关

Gang, Qiang; Bettencourt, Conceição; Machado, Pedro M; Brady, Stefen; Holton, Janice L; Pittman, Alan M; Hughes, Deborah; Healy, Estelle; Parton, Matthew; Hilton-Jones, David; Shieh, Perry B; Needham, Merrilee; Liang, Christina; Zanoteli, Edmar; de Camargo, Leonardo Valente; De Paepe, Boel; De Bleecker, Jan; Shaibani, Aziz; Ripolone, Michela; Violano, Raffaella; Moggio, Maurizio; Barohn, Richard J; Dimachkie, Mazen M; Mora, Marina; Mantegazza, Renato; Zanotti, Simona; Singleton, Andrew B; Hanna, Michael G; Houlden, Henry