DimahNayefSaadeMD

PubMed

• The recurrent deep intronic pseudoexon-inducing variantc.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readin...
  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,...> ;Medrxiv. 2024 Mar 29
• Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
  Janelle Geist Hauserman, Chamindra G Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah B Neuhaus, Dimah Saade, Gabrielle Vaughn, Denise Malicki, Rupleen K...> ;HGG Advances. 2024 Apr 11
• 1 citations
  Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
  Agrawal, P. B., Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S ...> ;Genetics in Medicine. 2024 Feb 1
• Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ...
  Lawlor, M., Schoser, B., Margeta, M., Sewry, C., Jones, K., Shieh, P., Kuntz, N., Smith, B., Dowling, J., Müller-Felber, W., Bönnemann, C., Seferian, A., Blaschek, A.,...> ;Ebiomedicine. 2024 Jan 1
• 7 citations
  Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
  Perry B Shieh, Nancy L Kuntz, James J Dowling, Wolfgang Müller-Felber, Carsten G Bönnemann, Andreea M Seferian, Laurent Servais, Barbara K Smith, Francesco Muntoni, As...> ;The Lancet. Neurology. 2023 Dec 1
• 2 citations
  261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands.
  Laurent Servais, Rebecca Horton, Dimah Saade, Carsten Bonnemann, Francesco Muntoni> ;Neuromuscular Disorders. 2023 Nov 1
• 3 citations
  PIEZO2 and perineal mechanosensation are essential for sexual function.
  Ruby M Lam, Lars J von Buchholtz, Melanie Falgairolle, Jennifer Osborne, Eleni Frangos, M Rocio Servin-Vences, Maximilian Nagel, Minh Q Nguyen, Monessha Jayabalan, Dim...> ;Science. 2023 Aug 25
• 14 citations
  PIEZO2 in somatosensory neurons controls gastrointestinal transit.
  M Rocio Servin-Vences, Ruby M Lam, Alize Koolen, Yu Wang, Dimah N Saade, Meaghan Loud, Halil Kacmaz, Suzanne Frausto, Yunxiao Zhang, Arthur Beyder, Kara L Marshall, Ca...> ;Cell. 2023 Aug 3
• 2 citations
  Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
  Morales-Rosado, J. A., Morales-Rosado, J. A., Joel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, A Reghan Foley, Filippo Pinto E Vairo, Davut Pehlivan, San...> ;American Journal of Human Genetics. 2023 Jun 1
• 1 citations
  Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
  Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A Lakhani, Weizhen Ji, Laurie Steiner, J...> ;Genetics in Medicine. 2023 Aug 1
• 1 citations
  -related congenital myopathy: expansion of the clinical and genetic spectrum.
  Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Haluk Topaloglu, Aurelio Hernández-Laín, Diclehan Orhan, Mehmet Ali...> ;Journal of Medical Genetics. 2022 Nov 1
• 2 citations
  Biallelic variants inare associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
  Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex, Claude Besmond, Laurence Hubert, Magalie Barth, Inês A Barbosa, Charu Deshpa...> ;HGG Advances. 2022 Apr 14
• Anesthetic Management of Children and Adolescents With Giant Axonal Neuropathy: A Large Case Series.
  Muhammad Yousef, Diana Bharucha-Goebel, Dimah Saade, G. Averion, Carsten G. Bönnemann, Zenaide M.N. Quezado> ;A&A Practice. 2021 Oct 25
• 8 citations
  Ethical challenges for a new generation of early-phase pediatric gene therapy trials
  Alexander A. Iyer, Dimah Saade, Diana Bharucha-Goebel, A. Reghan Foley, G. Averion, Eduardo Paredes, Steven J. Gray, Carsten G. Bönnemann, Christine Grady, S Hendriks,...> ;Genetics in Medicine. 2021 Jul 7
• 144 citations
  PIEZO2 mediates injury-induced tactile pain in mice and humans
  Marcin Szczot, Jaquette Liljencrantz, Nima Ghitani, Arnab Barik, Ruby M. Lam, James H. Thompson, Diana Bharucha-Goebel, Dimah Saade, Aaron Necaise, Sandra Donkervoort,...> ;Science Translational Medicine. 2018 Oct 10
• 11 citations
  Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
  Diana Bharucha-Goebel, Gina Norato, Dimah Saade, Eduardo Paredes, Victoria Biancavilla, Sandra Donkervoort, Rupleen Kaur, Tanya J. Lehky, Margaret Fink, Diane Armao, S...> ;Brain. 2021 Nov 29
• 76 citations
  Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
  Payam Mohassel, Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta, A. Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira...> ;Nature Medicine. 2021 May 31
• 23 citations
  Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans.
  Laura K. Case, Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin D. Tubbs, Micaela V. McCall, Megan Bradson, Marcin Szczot, Mark H. Pitcher, Nima Ghitani, ...> ;Nature Communications. 2021 Jan 28
• 90 citations
  PIEZO2 in sensory neurons and urothelial cells coordinates urination.
  Kara L. Marshall, Dimah Saade, Nima Ghitani, Adam Coombs, Marcin Szczot, Jason A. Keller, Tracy Ogata, Ihab Daou, Lisa Stowers, Carsten G. Bönnemann, Alexander T. Ches...> ;Nature. 2020 Oct 14
• 2 citations
  Utility of neuromuscular ultrasound for electromyographic needle localization within diseased muscle.
  Omar F. Ahmad, Dimah Saade, A. Reghan Foley, Carsten G. Bönnemann, Tanya J. Lehky> ;Muscle & Nerve. 2019 Dec 1
• 20 citations
  Dominant collagen XII mutations cause a distal myopathy
  Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, S. Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J...> ;Annals of Clinical and Translational Neurology. 2019 Oct 1
• 25 citations
  MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
  Sandra Donkervoort, Rasha Sabouny, Pomi Yun, Laurence Gauquelin, Katherine R. Chao, Ying Hu, I. Al Khatib, Ana Töpf, Payam Mohassel, Beryl B. Cummings, Rupleen Kaur, D...> ;Acta Neuropathologica. 2019 Aug 29
• 66 citations
  An ultrafast system for signaling mechanical pain in human skin
  Saad S. Nagi, Andrew Marshall, Adarsh Makdani, Ewa Jarocka, Jaquette Liljencrantz, Mikael Ridderström, Sumaiya Shaikh, Francis O'Neill, Dimah Saade, Sandra Donkervoort...> ;Science Advances. 2019 Jul 1
• 22 citations
  Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
  María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparrós-Martín, Dimah Saade, Ying Hu, Vé...> ;Nature Communications. 2019 Feb 15
• 4 citations
  The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.
  Dimah Saade, S. Neuhaus, A. Reghan Foley, Carsten G. Bönnemann> ;Seminars in Pediatric Neurology. 2019 Apr 1
• Join now to see all