E-LIB Suche - Ergebnisse für: Sandra Donkervoort

1

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/..

2

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/..

3

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/..

4

Biallelic CRELD1 variants cause a multisystem syndrome, inc..:

Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty...
Genetics in Medicine. 26 (2024) 2 - p. 101023 , 2024

Link: https://doi.org/10.1016/..

5

The expanding clinical and genetic spectrum of DYNC1H1-rela..:

Möller, Birk ; Becker, Lena-Luise ; Saffari, Afshin...
Brain. , 2024

Link: https://doi.org/10.1093/..

6

Bi-allelic variants in HMGCR cause an autosomal-recessive p..:

Morales-Rosado, Joel A. ; Schwab, Tanya L. ; Macklin-Mantia, Sarah K....
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023

Link: https://doi.org/10.1016/..

7

Electrophysiological Characterization of a MYH7 Variant wit..:

Vial, Felipe ; McGurrin, Patrick ; Osterholt, Thomas...
Movement Disorders Clinical Practice. 10 (2023) 4 - p. 646-651 , 2023

Link: https://doi.org/10.1002/..

8

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/..

9

P452: Specifying the ACMG/AMP variant sequence interpretati..:

DiStefano, Marina ; Webb, Ryan ; McCurry, Hannah...
Genetics in Medicine Open. 1 (2023) 1 - p. 100499 , 2023

Link: https://doi.org/10.1016/..

10

Variants in DTNA cause a mild, dominantly inherited muscula..:

Nascimento, Andres ; Bruels, Christine C. ; Donkervoort, Sandra...
Acta Neuropathologica. 145 (2023) 4 - p. 479-496 , 2023

Link: https://doi.org/10.1007/..

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/..

12

A comprehensive study of skeletal muscle imaging in FHL1‐re..:

Mohassel, Payam ; Yun, Pomi ; Syeda, Safoora...
Annals of Clinical and Translational Neurology. 10 (2023) 8 - p. 1442-1455 , 2023

Link: https://doi.org/10.1002/..

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/..

14

Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
Nature Communications. 13 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

15

The SPTLC1 p.S331 mutation bridges sensory neuropathy and m..:

Fiorillo, Chiara ; Capodivento, Giovanna ; Geroldi, Alessandro...
Neuropathology and Applied Neurobiology. 48 (2022) 7 - p. , 2022

Link: https://doi.org/10.1111/..