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Bönnemann, Carsten G.
550  Ergebnisse:
Personensuche X
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1

A Laing distal myopathy–associated proline substitution in ..:

Buvoli, Massimo ; Wilson, Genevieve C.K. ; Buvoli, Ada...
Journal of Clinical Investigation.  134 (2024)  9 - p. , 2024
Link: https://doi.org/10.1172/..
 
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2

Allele-specific CRISPR-Cas9 editing inactivates a single nu..:

Bolduc, Véronique ; Sizov, Katherine ; Brull, Astrid...
Molecular Therapy - Nucleic Acids.  35 (2024)  3 - p. 102269 , 2024
Link: https://doi.org/10.1016/..
 
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3

CIAO1 loss of function causes a neuromuscular disorder with..:

Maio, Nunziata ; Orbach, Rotem ; Zaharieva, Irina T....
Journal of Clinical Investigation.  134 (2024)  12 - p. , 2024
Link: https://doi.org/10.1172/..
 
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4

Rycal S48168 (ARM210) for RYR1-related myopathies: a phase ..:

Todd, Joshua J. ; Lawal, Tokunbor A. ; Chrismer, Irene C....
eClinicalMedicine.  68 (2024)  - p. 102433 , 2024
Link: https://doi.org/10.1016/..
 
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5

The First Decade of Journal of Neuromuscular Diseases: Supp..:

Lochmüller, Hanns ; Bönnemann, Carsten G.
Journal of Neuromuscular Diseases.  11 (2024)  1 - p. 1-3 , 2024
Link: https://doi.org/10.3233/..
 
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6

Clinical, immunohistochemical, and genetic characterization..:

Geist Hauserman, Janelle ; Laverty, Chamindra G. ; Donkervoort, Sandra...
Human Genetics and Genomics Advances.  5 (2024)  2 - p. 100274 , 2024
Link: https://doi.org/10.1016/..
 
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7

Optimized allele-specific silencing of the dominant-negativ..:

Brull, Astrid ; Sarathy, Apurva ; Bolduc, Véronique...
Molecular Therapy - Nucleic Acids.  35 (2024)  2 - p. 102178 , 2024
Link: https://doi.org/10.1016/..
 
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8

Effects of gene replacement therapy with resamirigene bilpa..:

Lawlor, Michael W. ; Schoser, Benedikt ; Margeta, Marta...
eBioMedicine.  99 (2024)  - p. 104894 , 2024
Link: https://doi.org/10.1016/..
 
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9

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:

Donkervoort, Sandra ; Mohassel, Payam ; O'Leary, Melanie...
Annals of Clinical and Translational Neurology.  11 (2024)  3 - p. 629-640 , 2024
Link: https://doi.org/10.1002/..
 
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10

AAV gene therapy for hereditary spastic paraplegia type 50:..:

Dowling, James J. ; Pirovolakis, Terry ; Devakandan, Keshini...
Nature Medicine.  30 (2024)  7 - p. 1882-1887 , 2024
Link: https://doi.org/10.1038/..
 
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11

Recurrent de novoSPTLC2variant causes childhood-onset amyot..:

Syeda, Safoora B ; Lone, Museer A ; Mohassel, Payam...
Journal of Neurology, Neurosurgery & Psychiatry.  95 (2023)  2 - p. 103-113 , 2023
Link: https://doi.org/10.1136/..
 
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12

PIEZO2 and perineal mechanosensation are essential for sexu..:

Lam, Ruby M. ; von Buchholtz, Lars J. ; Falgairolle, Melanie...
Science.  381 (2023)  6660 - p. 906-910 , 2023
Link: https://doi.org/10.1126/..
 
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13

Unusually severe muscular dystrophy upon in-frame deletion ..:

Gorokhova, Svetlana ; Schessl, Joachim ; Zou, Yaqun...
Med.  4 (2023)  4 - p. 245-251.e3 , 2023
Link: https://doi.org/10.1016/..
 
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14

Collagen VI-related myopathies: clinical variability, pheno..:

Kwong, Anna KY ; Zhang, Yanmin ; Ho, Ronnie SL...
Neuromuscular Disorders.  33 (2023)  5 - p. 371-381 , 2023
Link: https://doi.org/10.1016/..
 
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15

Recessive Pathogenic GMPPB Variants Cause a Childhood Onset..:

Jewett, Gordon ; Beland, Benjamin ; Khayambashi, Shahin...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.  , 2023
Link: https://doi.org/10.1017/..
 
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