Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment (2017)
- Authors:
- Wiessner, Manuela
- Roos, Andreas
- Munn, Christopher J.
- Viswanathan, Ranjith
- Whyte, Tamieka
- Cox, Dan
- Schoser, Benedikt
- Sewry, Caroline
- Roper, Helen
- Phadke, Rahul
- Bettolo, Chiara Marini
- Barresi, Rita
- Charlton, Richard
- Bönnemann, Carsten G.
- Abath Neto, Osório
- Reed, Umbertina C.
- Zanoteli, Edmar
- Moreno, Cristiane Araújo Martins
- Ertl-Wagner, Birgit
- Stucka, Rolf
- De Goede, Christian
- Silva, Tamiris Borges da
- Hathazi, Denisa
- Dell’Aica, Margherita
- Zahedi, René P.
- Thiele, Simone
- Müller, Juliane
- Kingston, Helen
- Müller, Susanna
- Curtis, Elizabeth
- Walter, Maggie C.
- Strom, Tim M.
- Straub, Volker
- Bushby, Kate
- Muntoni, Francesco
- Swan, Laura E.
- Lochmüller, Hanns
- Senderek, Jan
- USP affiliated authors: REED, UMBERTINA CONTI - FM ; ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1016/j.ajhg.2017.01.024
- Subjects: DISTROFIA MUSCULAR; COMPROMETIMENTO COGNITIVO LEVE; MUTAÇÃO; ENZIMAS
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Human Genetics
- ISSN: 0002-9297
- Volume/Número/Paginação/Ano: v. 100, n. 3, p. 523-536, 2017
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: hybrid
- Licença: cc-by
-
ABNT
WIESSNER, Manuela et al. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics, v. 100, n. 3, p. 523-536, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2017.01.024. Acesso em: 19 abr. 2024. -
APA
Wiessner, M., Roos, A., Munn, C. J., Viswanathan, R., Whyte, T., Cox, D., et al. (2017). Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics, 100( 3), 523-536. doi:10.1016/j.ajhg.2017.01.024 -
NLM
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Bettolo CM, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Moreno CAM, Ertl-Wagner B, Stucka R, De Goede C, Silva TB da, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment [Internet]. American Journal of Human Genetics. 2017 ; 100( 3): 523-536.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024 -
Vancouver
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Bettolo CM, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Moreno CAM, Ertl-Wagner B, Stucka R, De Goede C, Silva TB da, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment [Internet]. American Journal of Human Genetics. 2017 ; 100( 3): 523-536.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024 - Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
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Informações sobre o DOI: 10.1016/j.ajhg.2017.01.024 (Fonte: oaDOI API)
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