Carsten G. Bönnemann

ScholarGPS® ID: 57476759767159

Affiliation
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, United States
Affiliation History

Field
Medicine
Discipline
Neurology
Top Specialties
Neuromuscular Disease | Mutation | Muscular Dystrophy | Birth Defect | Collagen | Magnetic Resonance Imaging | Medical Genetics | Molecular Genetics | Extracellular Matrix | Human Genetics | Peripheral Neuropathy | Skeletal Muscle | Duchenne Muscular Dystrophy | Missense Mutation | Motor Control
Metrics Summary
Publication Count
460
Predicted Citations
20,830
Predicted h-index
78
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
You must register and claim your profile to add or remove publications from it.
... publications
FILTER BY:
Year
Type
Specialty
Affiliations
Access
Co-Authors
Add
Delete
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient (journal article)
Dowling, James J. | Pirovolakis, Terry | Devakandan, Keshini | Stosic, Ana | Pidsadny, Mia | Nigro, Elisa | Sahin, Mustafa | Ebrahimi-Fakhari, Darius | Messahel, Souad | Varadarajan, Ganapathy | ... | Gray, Steven J.
Nature Medicine (2024).
10.1038/s41591-024-03078-4
Cite | Source
Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy (journal article)
Brull, Astrid | Sarathy, Apurva | Bolduc, Véronique | Chen, Grace S. | McCarty, Riley M. | Bönnemann, Carsten G.
Molecular Therapy - Nucleic Acids, volume 35, issue 2, pages 102178- (2024).
10.1016/j.omtn.2024.102178
Cited by (2) | Cite | Source
A Novel COL11A1 Variant in a Child with Neuromuscular Findings: Expanding the Genotypic and Phenotypic Spectrum of COL11A1-related Disease (P4-8.003) (journal article)
McAnally, Meghan | Potticary, Abigail | Donkervoort, Sandra | Hu, Ying | Pais, Lynn | Huryn, Laryssa | Foley, A. Reghan | Bonnemann, Carsten
Neurology, volume 102, issue 17_supplement_1 (2024).
10.1212/WNL.0000000000205268
Cite | Source
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications (journal article)
Geist Hauserman, Janelle | Laverty, Chamindra G. | Donkervoort, Sandra | Hu, Ying | Silverstein, Sarah | Neuhaus, Sarah B. | Saade, Dimah | Vaughn, Gabrielle | Malicki, Denise | Kaur, Rupleen | ... | Bönnemann, Carsten G.
Human Genetics and Genomics Advances, volume 5, issue 2, pages 100274- (2024).
10.1016/j.xhgg.2024.100274
Cite | Source
The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research (journal article)
Bullivant, Joanne | Sen, Anando | Page, Jess | Graham, Robert J. | Jungbluth, Heinz | Schara-Schmidt, Ulrike | Lynch, Orla | Bönnemann, Carsten | Hollander, Aart den | Lennox, Anne | ... | Marini-Bettolo, Chiara
Neuromuscular Disorders, volume 35 (2024).
10.1016/j.nmd.2023.10.014
Cite | Source
The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research (journal article)
Lochmüller, Hanns | Bönnemann, Carsten G.
Journal of Neuromuscular Diseases, volume 11, issue 1, pages 1-3 (2024).
10.3233/JND-249000
Cite | Source
Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN) (journal article)
Battaglia, Rachel A. | Faridounnia, Maryam | Beltran, Adriana | Robinson, Jasmine | Kinghorn, Karina | Ezzell, J. Ashley | Bharucha-Goebel, Diana | Bönnemann, Carsten G. | Hooper, Jody E. | Opal, Puneet | ... | Snider, Natasha T.
Molecular Biology of the Cell, volume 34, issue 12 (2023).
10.1091/mbc.E23-03-0094
Cited by (3) | Cite | Source
P412 Expanding the clinical and genetic spectrum of biallelic pathogenic MYO18B variants in congenital myopathy (journal article)
Donkervoort, S. | Zaharieva, I. | Essid, M. | Longman, C. | Foley, A. | Horrocks, I. | Benrhouma, H. | Farrugia, M. | Neuhaus, S. | Younes, T. | ... | Sarkozy, A.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.243
Cite | Source
P416 Systemic NAD+ deficiency reveals a potential therapeutic target for RYR1-related myopathies (journal article)
Lawal, T. | Riekhof, W. | Groom, L. | Varma, P. | Chrismer, I. | Kokkinis, A. | Grunseich, C. | Witherspoon, J. | Razaqyar, M. | Meilleur, K. | ... | Todd, J.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.247
Cite | Source
O16 New FDX2-loss of function phenotype presenting with blindness and myopathy with potential responsiveness to Co-enzyme Q10 analogs (journal article)
Foley, A. | Maio, N. | Todd, J. | Huryn, L. | Saade, D. | Neuhaus, S. | Donkervoort, S. | Hufnagel, R. | Stasheff, S. | Orbach, R. | ... | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.268
Cite | Source
P425 Inhibition of TGFβ signaling pathway as a therapeutic approach in collagen VI-related muscular dystrophy (journal article)
Mohassel, P. | Hearn, H. | Zou, Y. | Rooney, J. | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.366
Cite | Source
P426 Comparison of motor function measure-20 (MFM20) and neuromuscular gross motor outcome (NM GRO) in young children with LAMA2 or COL6-related dystrophy (journal article)
Doreswamy, K. | Foley, R. | Norato, G. | Waite, M. | Acquaye, N. | Hinkley, L. | Alfano, L. | Lowes, L. | Bonnemann, C. | Jain, M.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.367
Cite | Source
P236 Rod-less dystrophin may exert a dominant negative effect by interfering with utrophin's function (journal article)
Gorokhova, S. | Schessl, J. | Zou, Y. | Yang, M. | Heydemann, P. | Sufit, R. | Meilleur, K. | Donkervoort, S. | Medne, L. | Finkel, R. | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.422
Cite | Source
P444 Ophthalmologic findings following intrathecal AAV9 mediated gene transfer for Giant Axonal Neuropathy (journal article)
Bharucha-Goebel, D. | Saade, D. | Todd, J. | Huryn, L. | Norato, G. | DeLong, T. | Averion, G. | Donkervoort, S. | Foley, A. | Acquaye, N. | ... | Bonnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.482
Cite | Source
P404 Deep phenotyping and characterization of a patient with a novel autosomal dominant TNNI1-related hypercontractile muscle disease (journal article)
Bach, R Or | Bulea, T. | Donkervoort, S. | Foley, A. | van de Locht, M. | McLean, C. | de Winter, J. | Conijn, S. | Gravunder, A. | Hu, Y. | ... | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.235
Cite | Source
P285 Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease (journal article)
Foley, A. | Donkervoort, S. | Bharucha-Goebel, D. | Saade, D. | Flynn, L. | Grunseich, C. | Hu, Y. | Bruels, C. | Littel, H. | Estrella, E. | ... | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.195
Cite | Source
P169 Childhood onset amyotrophic lateral sclerosis associated with SPTLC2 gain-of-function pathogenic variants: clinical, genetic, and biochemical insights (journal article)
Bach, R Or | Syeda, S. | Mohassel, P. | Dohrn, M. | Lone, M. | Donkervoort, S. | Foley, A. | Beijer, D. | Bayraktar, E. | Oflazer, P. | ... | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.169
Cite | Source
P116 Whole-body muscle magnetic resonance imaging (MRI) in PAX7-congenital myopathy (CM) (journal article)
Haliloğlu, G. | Donkervoort, S. | Öz Yıldız, S. | Hu, Y. | Pais, L. | Koşukcu, C. | Aydıngöz, Ü | Bönnemann, C.
Neuromuscular Disorders, volume 33 (2023).
10.1016/j.nmd.2023.07.051
Cite | Source
Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine (journal article)
Jewett, Gordon | Beland, Benjamin | Khayambashi, Shahin | Silverstein, Sarah | Donkervoort, Sandra | Bönnemann, Carsten G. | Pfeffer, Gerald | Chhibber, Sameer
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques (2023).
10.1017/cjn.2023.277
Cite | Source
The UCMD-Causing COL6A1 () Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains (journal article)
Freiburg, Carolin D. | Solomon-Degefa, Herimela | Freiburg, Patrick | Mörgelin, Matthias | Bolduc, Véronique | Schmitz, Sebastian | Ala, Pierpaolo | Muntoni, Francesco | Behrmann, Elmar | Bönnemann, Carsten G. | ... | Wagener, Raimund
Human Mutation, volume 2023 (2023).
10.1155/2023/6892763
Cite | Source