TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E

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DOI: 10.1016/j.ajhg.2016.08.006
Published: 2016 Oct 6
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2016.08.006,
  title = {TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.},
  author = {Sferra A and Baillat G and Rizza T and Barresi S and Flex E and Tasca G and D'Amico A and Bellacchio E and Ciolfi A and Caputo V and Cecchetti S and Torella A and Zanni G and Diodato D and Piermarini E and Niceta M and Coppola A and Tedeschi E and Martinelli D and Dionisi-Vici C and Nigro V and Dallapiccola B and Compagnucci C and Tartaglia M and Haase G and Bertini E},
  year = {2016},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2016.08.006},
  url = {https://doi.org/10.1016/j.ajhg.2016.08.006}
}

RIS

TY  - JOUR
TI  - TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
AU  - Sferra A
AU  - Baillat G
AU  - Rizza T
AU  - Barresi S
AU  - Flex E
AU  - Tasca G
AU  - D'Amico A
AU  - Bellacchio E
AU  - Ciolfi A
AU  - Caputo V
AU  - Cecchetti S
AU  - Torella A
AU  - Zanni G
AU  - Diodato D
AU  - Piermarini E
AU  - Niceta M
AU  - Coppola A
AU  - Tedeschi E
AU  - Martinelli D
AU  - Dionisi-Vici C
AU  - Nigro V
AU  - Dallapiccola B
AU  - Compagnucci C
AU  - Tartaglia M
AU  - Haase G
AU  - Bertini E
PY  - 2016
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2016.08.006
UR  - https://doi.org/10.1016/j.ajhg.2016.08.006
ER  -

APA

A, S., G, B., T, R., S, B., E, F., G, T., A, D., E, B., A, C., V, C., S, C., A, T., G, Z., D, D., E, P., M, N., A, C., E, T., D, M., C, D., V, N., B, D., C, C., M, T., G, H., & E, B. (2016). TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2016.08.006

Source records

pubmed · retrieved 2026-11-10T14:31:32.628Z