Pathogenic <i>LRSAM1</i> RING Domain Variants Disrupt Intracellular Protein Localization in Charcot–Marie–Tooth Disease Type 2P

Johanna E. Hakonen, Tom P. Hellings, Esther Dingemanse, Bo Laman, Olaf J. Froncek, NynkeWienholts, Naima Lamzira-Arichi, Marlene van den Berg, Frank Baas, Noam Zelcer, Marian A. J. Weterman

Open source

DOI: 10.1155/humu/7169970
Published: 2026-01
Container: Human Mutation
Publisher: Wiley
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1155/humu/7169970,
  title = {Pathogenic
                    <i>LRSAM1</i>
                    RING Domain Variants Disrupt Intracellular Protein Localization in Charcot–Marie–Tooth Disease Type 2P},
  author = {Johanna E. Hakonen and Tom P. Hellings and Esther Dingemanse and Bo Laman and Olaf J. Froncek and NynkeWienholts and Naima Lamzira-Arichi and Marlene van den Berg and Frank Baas and Noam Zelcer and Marian A. J. Weterman},
  year = {2026},
  journal = {Human Mutation},
  doi = {10.1155/humu/7169970},
  url = {https://doi.org/10.1155/humu/7169970}
}

RIS

TY  - JOUR
TI  - Pathogenic
                    <i>LRSAM1</i>
                    RING Domain Variants Disrupt Intracellular Protein Localization in Charcot–Marie–Tooth Disease Type 2P
AU  - Johanna E. Hakonen
AU  - Tom P. Hellings
AU  - Esther Dingemanse
AU  - Bo Laman
AU  - Olaf J. Froncek
AU  - NynkeWienholts
AU  - Naima Lamzira-Arichi
AU  - Marlene van den Berg
AU  - Frank Baas
AU  - Noam Zelcer
AU  - Marian A. J. Weterman
PY  - 2026
JO  - Human Mutation
DO  - 10.1155/humu/7169970
UR  - https://doi.org/10.1155/humu/7169970
ER  -

APA

Hakonen, J. E., Hellings, T. P., Dingemanse, E., Laman, B., Froncek, O. J., NynkeWienholts, Lamzira-Arichi, N., Berg, M. V. D., Baas, F., Zelcer, N., & Weterman, M. A. J. (2026). Pathogenic <i>LRSAM1</i> RING Domain Variants Disrupt Intracellular Protein Localization in Charcot–Marie–Tooth Disease Type 2P. Human Mutation. https://doi.org/10.1155/humu/7169970

Source records

crossref · retrieved 2026-09-27T14:02:08.733Z