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D

Dimah Saade

neuromuscular and neurogenetic disorders of childhood section, neurogenetics branch, national institute of neurological disorders and stroke, nih , bethesda, md 20892 ,
H指数:22
被引数:1,767

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain
IF11.7
2025-04-030
OA
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program

腺相关病毒基因治疗开发：推进平台载体基因治疗项目的早期规划与监管考量

gene therapy
IF4
2025-02-200
PRE
Lomash, Richa Madan; Dehdashti, Jean; Shchelochkov, Oleg A.; Chandler, Randy J.; Li, Lina; Manoli, Irini; Sloan, Jennifer L.; Terse, Pramod; Xu, Xin; Saade, Dimah; Stan, Rodica; Brooks, Philip J.; Lo, Donald C.; Boennemann, Carsten G.; Venditti, Charles P.; Pariser, Anne R.; Ottinger, Elizabeth A.
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2025-02-090
OA
Mccarty, Riley M.; Saade, Dimah; Munot, Pinki; Laverty, Chamindra G.; Pinz, Hailey; Zou, Yaqun; Mcanally, Meghan; Yun, Pomi; Tian, Cuixia; Hu, Ying; Feng, Lucy; Phadke, Rahul; Ceulemans, Sophia; Magoulas, Pilar; Skalsky, Andrew J.; Friedman, Jennifer R.; Braddock, Stephen R.; Neuhaus, Sarah B.; Malicki, Denise M.; Bainbridge, Matthew N.; Nahas, Shareef; Dimmock, David P.; Kingsmore, Stephen F.; Lotze, Timothy E.; Foley, A. Reghan; Muntoni, Francesco; Straub, Volker; Donkervoort, Sandra; Bonnemann, Carsten G.
Intrathecal Gene Therapy for Giant Axonal Neuropathy
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-03-219
PRE
Bharucha-Goebel, Diana X.; Todd, Joshua J.; Saade, Dimah; Norato, Gina; Jain, Minal; Lehky, Tanya; Bailey, Rachel M.; Chichester, Jessica A.; Calcedo, Roberto; Armao, Diane; Foley, A. Reghan; Mohassel, Payam; Tesfaye, Eshetu; Carlin, Bradley P.; Seremula, Beth; Waite, Melissa; Zein, Wadih M.; Huryn, Laryssa A.; Crawford, Thomas O.; Sumner, Charlotte J.; Hoke, Ahmet; Heiss, John D.; Charnas, Lawrence; Hooper, Jody E.; Bouldin, Thomas W.; Kang, Elizabeth M.; Rybin, Denis; Gray, Steven J.; Bonnemann, Carsten G.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
GENETICS IN MEDICINE
IF6.2
2024-02-011
PRE
Jeffries, Lauren; Mis, Emily K.; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N.; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S.; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B.; Banka, Siddharth; Chao, Katherine R.; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M.; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E.; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E.; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P.; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M.; Stals, Karen; Towner, Shelley; Wilson, William; Khokha, Mustafa K.; Boennemann, Carsten G.; Lucas, Carrie L.; Lakhani, Saquib A.
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial
EBIOMEDICINE
IF10.8
2024-01-010
OAAI
Lawlor, Michael W.; Schoser, Benedikt; Margeta, Marta; Sewry, Caroline A.; Jones, Karra A.; Shieh, Perry B.; Kuntz, Nancy L.; Smith, Barbara K.; Dowling, James J.; Mueller-Felber, Wolfgang; Boennemann, Carsten G.; Seferian, Andreea M.; Blaschek, Astrid; Neuhaus, Sarah; Foley, A. Reghan; Saade, Dimah N.; Tsuchiya, Etsuko; Qasim, Ummulwara R.; Beatka, Margaret; Prom, Mariah J.; Ott, Emily; Danielson, Susan; Krakau, Paul; Kumar, Suresh N.; Meng, Hui; Vanden Avond, Mark; Wells, Clive; Gordish-Dressman, Heather; Beggs, Alan H.; Christensen, Sarah; Conner, Edward; James, Emma S.; Lee, Jun; Sadhu, Chanchal; Miller, Weston; Sepulveda, Bryan; Varfaj, Fatbardha; Prasad, Suyash; Rico, Salvador
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
GENETICS IN MEDICINE
IF6.2
2023-08-014
OAAI
Caron, Veronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chor, Sarah; Lakhani, Saquib A.; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R.; van de Pol, Laura A.; van Hagen, Johanna M.; Russi, Alvaro Serrano; Le Guyader, Gwenael; Nordenskjold, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancie, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F.; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Francoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R.; Calame, Daniel G.; Genevieve, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A.; Dobyns, William B.; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M.; Tremblay, Andre; Michaud, Jacques L.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-06-0116
OAAI
Morales-Rosado, Joel A.; Schwab, Tanya L.; Macklin-Mantia, Sarah K.; Foley, A. Reghan; Vairo, Filippo Pinto e; 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.; Bonnemann, Carsten G.; Klee, Eric W.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
JOURNAL OF MEDICAL GENETICS
IF3.7
2022-04-073
OA
Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Garcia, Solange Kapetanovic; Ardicli, Didem; Topaloglu, Haluk; Hernandez-Lain, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten; Straub, Volker; Yoon, Grace
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2022-04-016
OAAI
Thompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Ines A.; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G.; Wever, Eric J. M.; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten G.; Chao, Katherine R.; Cai, Chunyu; Iannaccone, Susan T.; Dean, Andrew F.; McFarland, Robert; Vaz, Frederic M.; Delahodde, Agnes; Taylor, Robert W.; Rotig, Agnes
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants
NEUROLOGY
IF8.5
2022-03-295
OA
Mohassel, Payam; Chang, Ning; Inoue, Kaoru; Delaney, Angela; Hu, Ying; Donkervoort, Sandra; Saade, Dimah; Billioux, B. Jeanne; Meader, Brooke; Volochayev, Rita; Konersman, Chamindra G.; Kaindl, Angela M.; Cho, Chie-Hee; Russell, Bianca; Rodriguez, Adrian; Foster, K. Wade; Foley, A. Reghan; Moore, Steven A.; Jones, Peter L.; Bonnemann, Carsten G.; Jones, Takako; Shaw, Natalie D.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

巨大的轴索性神经病: 大型自然病史队列的横断面分析

BRAIN
IF11.7
2021-06-110
OA
Bharucha-Goebel, Diana X.; Norato, Gina; Saade, Dimah; Paredes, Eduardo; Biancavilla, Victoria; Donkervoort, Sandra; Kaur, Rupleen; Lehky, Tanya; Fink, Margaret; Armao, Diane; Gray, Steven J.; Waite, Melissa; Debs, Sarah; Averion, Gilberto; Hu, Ying; Zein, Wadih M.; Foley, A. Reghan; Jain, Minal; Bonnemann, Carsten G.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
NATURE MEDICINE
IF50
2021-05-31101
OAAI
Mohassel, Payam; Donkervoort, Sandra; Lone, Museer A.; Nalls, Matthew; Gable, Kenneth; Gupta, Sita D.; Foley, A. Reghan; Hu, Ying; Saute, Jonas Alex Morales; Moreira, Ana Lucila; Kok, Fernando; Introna, Alessandro; Logroscino, Giancarlo; Grunseich, Christopher; Nickolls, Alec R.; Pourshafie, Naemeh; Neuhaus, Sarah B.; Saade, Dimah; Gangfuss, Andrea; Koelbel, Heike; Piccus, Zoe; Le Pichon, Claire E.; Fiorillo, Chiara; Ly, Cindy V.; Topf, Ana; Brady, Lauren; Specht, Sabine; Zidell, Aliza; Pedro, Helio; Mittelmann, Eric; Thomas, Florian P.; Chao, Katherine R.; Konersman, Chamindra G.; Cho, Megan T.; Brandt, Tracy; Straub, Volker; Connolly, Anne M.; Schara, Ulrike; Roos, Andreas; Tarnopolsky, Mark; Hoke, Ahmet; Brown, Robert H.; Lee, Chia-Hsueh; Hornemann, Thorsten; Dunn, Teresa M.; Bonnemann, Carsten G.
Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans
NATURE COMMUNICATIONS
IF15.7
2021-01-2821
OAAI
Case, Laura K.; Liljencrantz, Jaquette; Madian, Nicholas; Necaise, Aaron; Tubbs, Justin; McCall, Micaela; Bradson, Megan L.; Szczot, Marcin; Pitcher, Mark H.; Ghitani, Nima; Frangos, Eleni; Cole, Jonathan; Bharucha-Goebel, Diana; Saade, Dimah; Ogata, Tracy; Donkervoort, Sandra; Foley, A. Reghan; Bonnemann, Carsten G.; Olausson, Hakan; Bushnell, M. Catherine; Chesler, Alexander T.
Dominant collagen XII mutations cause a distal myopathy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2019-09-1125
OAAI
Mohassel, Payam; Liewluck, Teerin; Hu, Ying; Ezzo, Daniel; Ogata, Tracy; Saade, Dimah; Neuhaus, Sarah; Bolduc, Veronique; Zou, Yaqun; Donkervoort, Sandra; Medne, Livija; Sumner, Charlotte J.; Dyck, P. James B.; Wierenga, Klaas J.; Tennekoon, Gihan; Finkel, Richard S.; Chen, Jiani; Winder, Thomas L.; Staff, Nathan P.; Foley, A. Reghan; Koch, Manuel; Bonnemann, Carsten G.

研究方向

暂未获取到该数据
C
Carsten G. Bönnemann
H 指数:76论文数:547被引数:2.1万
S
Sandra Donkervoort
H 指数:46论文数:312被引数:9,128
A
A. Reghan Foley
H 指数:40论文数:173被引数:7,289
P
Payam Mohassel
H 指数:27论文数:105被引数:2,555
K
Katherine R. Chao
H 指数:32论文数:91被引数:4,533
D
Diana Bharucha‐Goebel
H 指数:24论文数:136被引数:2,434
S
Sarah Neuhaus
H 指数:12论文数:57被引数:699
Y
Ying Hu
H 指数:11论文数:29被引数:413
V
Volker Straub
H 指数:101论文数:962被引数:3.4万
S
Steven A. Moore
H 指数:62论文数:434被引数:1.8万