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

Infant Outcomes, Risk Factors, and Diagnostic Yield After a Brief Resolved Unexplained Event: A Systematic Review and Meta-Analysis

短暂性不明原因事件后婴儿结局、风险因素和诊断率:系统评价和荟萃分析

Nama, Nassr; Liebert, Stephanie; Abaji, Mario; DeLaroche, Amy; Carlin, Kristy; Jewell, Teresa; D'Arienzo, David; Fung, Alastair; Gremse, David; Bonkowsky, Joshua L; Chen, Maida; Sagiv, Eyal; Herman, Bruce; Lu, Elise; Gill, Peter J; Tieder, Joel S; Coon, Eric R

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy

灰色地带项目:基于风险的X连锁肾上腺脑白质营养不良症ABCD1变异分类

Lund, Troy C; Miettunen, Kelly; Jaspers, Yorrick R J; Bergner, Caroline; Bonkowsky, Joshua L; Bruschi, Fabio; Cohen, Julie S; Dijkstra, Inge M E; Eichler, Florian S; Mallack, Eric J; Salomons, Gajja S; Thompson, Robert; Tonduti, Davide; van Haren, Keith P; Wamelink, Mirjam M C; Zerem, Ayelet; Engelen, Marc; Kemp, Stephan

Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease

专家建议对新生儿克拉伯病筛查阳性结果迅速做出反应

Qiao, Wanqiong; Scott, Stuart; Kang, Peter B; Bonkowsky, Joshua L; Jayadev, Suman; Spinazzola, Antonella; Cestèle, Sandrine; Harper, Alexander James; Marra, Sebastian; Leroudier, Nathalie; Rusconi, Raffaella; Dhifallah, Sandra; Horrocks, Iain A; Kirkham, Fenella Jane; Morgan, Iona Margaret Rose; Singh, Jaspal; Stobo, Daniel John; Symonds, Joseph D; Zuberi, Sameer M; Mantegazza, Massimo; Brunklaus, Andreas; Thompson Stone, Robert; White, Amy L; Rubin, Jennifer P; Rajan, Deepa Soundara; Matern, Dietrich; Kurtzberg, Joanne; Orsini, Joseph J; Shenoy, Shalini; Mallack, Eric J; Ream, Margie A

Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions

脑型 X 连锁肾上腺脑白质营养不良的炎症和免疫调节:病理学和干预措施综述

Wright, Melissa A; Demmitt-Rice, Courtney; Van Haren, Keith P; Lund, Troy C; Eichler, Florian; Bonkowsky, Joshua L

Clinical risk factors predicting likelihood of pathogenic genetic result in NICU patients

预测新生儿重症监护病房患者致病基因结果可能性的临床风险因素

Bonkowsky, Joshua L; Zoucha, Samuel B; Jensen, Jenna; Wilkes, Jacob; Palmquist, Rachel N; Yandell, Mark; Tristani-Firouzi, Martin

An Imperative for Public Sharing of Adverse Events of Gene Therapy Trials

公开分享基因治疗试验不良事件的必要性

Bonkowsky, Joshua L; Rajan, Deepa S; Eichler, Florian

Gender Trends in Professional Advancement Among Academic Pediatric Neurologists

学术型儿科神经科医生职业晋升中的性别趋势

Knowles, Juliet K; Hewitt, Angela L; Teeyagura, Prathyusha; Botzheim, Bren; Boothroyd, Derek; Pal, Ria; Cheronis, Chrisoula; Pia, Shermila; MacRae, Rebecca; Shrock, Christine; Hancock, Taelor; Solidum, Rayann; Peraino, Jaclyn; Hill, Amy; Owlett, Laura; Moss, Sara N; Tran, Catherine; Castillo, Daniel A; Wainwright, Mark S; Shellhaas, Renée A; Dlamini, Nomazulu; Sahin, Mustafa; Gelineau-Morel, Rose; Bonkowsky, Joshua L

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter

基于共识的专家建议:白质消失的诊断和临床管理

van Voorst, Romy J; Schoenmakers, Daphne H; Bonkowsky, Joshua L; Vanderver, Adeline; Krägeloh-Mann, Ingeborg; Bernard, Geneviève; Bertini, Enrico; Fatemi, Ali; Sgobbi, Paulo V; Wolf, Nicole I; Groeschel, Samuel; Tonduti, Davide; Sevin, Caroline; Orthmann-Murphy, Jennifer L; Schöls, Ludger; Salsano, Ettore; Brais, Bernard; Jaffe, Nicole; Ter Horst, Kasper W; Hannema, Sabine E; Hayes, Katherine G; Meyburg, Jochen; van Heerde, Marc; Sbrocchi, Anne Marie; van Spaendonk, Rosalina; Thiffault, Isabelle; Hofsteenge, Geesje H; Sudmeier-Broek, Carolina; Timmer, Corrie; Skwirut, Donna; Buck, Allyson; Hollberg, Bret; Chapleau, Ron; Dekker, Hanka; Campbell, Susan G; Abbink, Truus E M; Leferink, Prisca S; van der Knaap, Marjo S

A Novel Mouse Model for Cerebral Inflammatory Demyelination in X-Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic Targets

X连锁肾上腺脑白质营养不良症脑部炎症性脱髓鞘的新型小鼠模型:对发病机制和潜在治疗靶点的深入研究

Hashemi, Ezzat; Srivastava, Isha N; Aguirre, Alejandro; Yoseph, Ezra T; Kaushal, Esha; Awani, Avni; Ryu, Jae K; Akassoglou, Katerina; Talebian, Shahrzad; Chu, Pauline; Pisani, Laura; Musolino, Patricia; Steinman, Lawrence; Doyle, Kristian; Robinson, William H; Sharpe, Orr; Cayrol, Romain; Orchard, Paul J; Lund, Troy; Vogel, Hannes; Lenail, Max; Han, May H; Bonkowsky, Joshua L; Van Haren, Keith P