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Artigo de periodico
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment (2017)
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
Source: American Journal of Human Genetics. Unidade: FM
Subjects: DISTROFIA MUSCULAR, COMPROMETIMENTO COGNITIVO LEVE, MUTAÇÃO, ENZIMAS
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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: 11 nov. 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 nov. 11 ] 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 nov. 11 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024
Artigo de periodico
Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease (2015)
Varsani, Hemlata; Frommer, Klaus W.; Charman, Susan C.; Li, Charles K.; Marie, Suely K. N.; Amato, Anthony A.; Banwell, Brenda; Bove, Kevin E.; Corse, Andrea M.; Emslie-Smith, Alison M.; Jacques, Thomas S.; Lundberg, Ingrid E.; Minetti, Carlo; Nennesmo, Inger; Rushing, Elisabeth J.; Sallum, Adriana M. E.; Sewry, Caroline; Pilkington, Clarissa A.; Holton, Janice L.; Wedderburn, Lucy R.
Source: Annals of the Rheumatic Diseases. Unidade: FM
Subjects: MÚSCULOS (FISIOPATOLOGIA;HISTOLOGIA), IMUNOHISTOQUÍMICA, DERMATOPATIAS INFECCIOSAS, BIÓPSIA
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ABNT
VARSANI, Hemlata et al. Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease. Annals of the Rheumatic Diseases, v. 74, n. 1, p. 204-210, 2015Tradução . . Disponível em: https://doi.org/10.1136/annrheumdis-2013-203396. Acesso em: 11 nov. 2024.
APA
Varsani, H., Frommer, K. W., Charman, S. C., Li, C. K., Marie, S. K. N., Amato, A. A., et al. (2015). Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease. Annals of the Rheumatic Diseases, 74( 1), 204-210. doi:10.1136/annrheumdis-2013-203396
NLM
Varsani H, Frommer KW, Charman SC, Li CK, Marie SKN, Amato AA, Banwell B, Bove KE, Corse AM, Emslie-Smith AM, Jacques TS, Lundberg IE, Minetti C, Nennesmo I, Rushing EJ, Sallum AME, Sewry C, Pilkington CA, Holton JL, Wedderburn LR. Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease [Internet]. Annals of the Rheumatic Diseases. 2015 ; 74( 1): 204-210.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1136/annrheumdis-2013-203396
Vancouver
Varsani H, Frommer KW, Charman SC, Li CK, Marie SKN, Amato AA, Banwell B, Bove KE, Corse AM, Emslie-Smith AM, Jacques TS, Lundberg IE, Minetti C, Nennesmo I, Rushing EJ, Sallum AME, Sewry C, Pilkington CA, Holton JL, Wedderburn LR. Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease [Internet]. Annals of the Rheumatic Diseases. 2015 ; 74( 1): 204-210.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1136/annrheumdis-2013-203396
Artigo de periodico
Approach to the diagnosis of congenital myopathies (2014)
North, Kathryn N.; Wang, Ching H.; Clarke, Nigel; Jungbluth, Heinz; Vainzof, Mariz ; Dowling, James J.; Amburgey, Kimberly; Quijano-Roy, Susana; Beggs, Alan H.; Sewry, Caroline; Laing, Nigel G.; Bönnemann, Carsten G.
Source: Neuromuscular Disorders. Unidade: IB
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, DIAGNÓSTICO, GENÉTICA
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ABNT
NORTH, Kathryn N. et al. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, v. 24, n. 2, p. 97\2013116, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2013.11.003. Acesso em: 11 nov. 2024.
APA
North, K. N., Wang, C. H., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J. J., et al. (2014). Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, 24( 2), 97\2013116. doi:10.1016/j.nmd.2013.11.003
NLM
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies [Internet]. Neuromuscular Disorders. 2014 ; 24( 2): 97\2013116.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1016/j.nmd.2013.11.003
Vancouver
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies [Internet]. Neuromuscular Disorders. 2014 ; 24( 2): 97\2013116.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1016/j.nmd.2013.11.003
Artigo de periodico
Consensus statement on standard of care for congenital myopathies (2012)
Wang, Ching H; Dowling, James J; North, Kathryn; Schroth, Mary K; Sejersen, Thomas; Shapiro, Frederic; Bellini, Jonathan; Weiss, Hali; Guillet, Marc; Amburgey, Kimberly; Apkon, Susan; Bertini, Enrico; Bonnemann, Carsten; Clarke, Nigel; Connolly, Anne M; Estournet-Mathiaud, Brigitte; Fitzgerald, Dominic; Florence, Julaine M; Gee, Richard; Gurgel Giannetti, Juliana; Glanzman, Allan M; Hofmeister, Brittany; Jungbluth, Heinz; Koumbourlis, Anastassios C; Laing, Nigel G; Main, Marion; Morrison, Leslie A; Munns, Craig; Rose, Kristy; Schuler, Pamela M; Sewry, Caroline; Storhaug, Kari; Vainzof, Mariz ; Yuan, Nanci
Source: Journal of Child Neurology. Unidade: IB
Subjects: DOENÇAS MUSCULARES, NEUROLOGIA, DOENÇAS GENÉTICAS
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ABNT
WANG, Ching H et al. Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology, v. 37, n. 3, p. 363-382, 2012Tradução . . Disponível em: https://doi.org/10.1177/0883073812436605. Acesso em: 11 nov. 2024.
APA
Wang, C. H., Dowling, J. J., North, K., Schroth, M. K., Sejersen, T., Shapiro, F., et al. (2012). Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology, 37( 3), 363-382. doi:10.1177/0883073812436605
NLM
Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, Bellini J, Weiss H, Guillet M, Amburgey K, Apkon S, Bertini E, Bonnemann C, Clarke N, Connolly AM, Estournet-Mathiaud B, Fitzgerald D, Florence JM, Gee R, Gurgel Giannetti J, Glanzman AM, Hofmeister B, Jungbluth H, Koumbourlis AC, Laing NG, Main M, Morrison LA, Munns C, Rose K, Schuler PM, Sewry C, Storhaug K, Vainzof M, Yuan N. Consensus statement on standard of care for congenital myopathies [Internet]. Journal of Child Neurology. 2012 ; 37( 3): 363-382.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1177/0883073812436605
Vancouver
Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, Bellini J, Weiss H, Guillet M, Amburgey K, Apkon S, Bertini E, Bonnemann C, Clarke N, Connolly AM, Estournet-Mathiaud B, Fitzgerald D, Florence JM, Gee R, Gurgel Giannetti J, Glanzman AM, Hofmeister B, Jungbluth H, Koumbourlis AC, Laing NG, Main M, Morrison LA, Munns C, Rose K, Schuler PM, Sewry C, Storhaug K, Vainzof M, Yuan N. Consensus statement on standard of care for congenital myopathies [Internet]. Journal of Child Neurology. 2012 ; 37( 3): 363-382.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1177/0883073812436605
Artigo de periodico
International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: A tool for potential use in clinical trial (2007)
Wedderburn, Lucy R.; Varsani, Hemlata; Li, Charles K. C.; Newton, Katy R.; Amato, Anthony A.; Banwell, Brenda; Bove, Kevin E.; Corse, Andrea M.; Emslie-Smith, Alison; Harding, Brian; Hoogendijk, Jessica; Lundberg, Ingrid E.; Marie, Suely; Minetti, Carlo; Nennesmo, Inger; Rushing, Elisabeth J.; Sewry, Caroline; Charman, Susan C.; Pilkington, Clarissa A.; Holton, Janice L.
Source: Arthritis & Rheumatism. Unidade: FM
Subjects: BIÓPSIA (AVALIAÇÃO), MÚSCULOS (PATOLOGIA), DERMATOPATIAS (CLASSIFICAÇÃO;FISIOPATOLOGIA), DOENÇAS REUMÁTICAS (DIAGNÓSTICO;CLASSIFICAÇÃO)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
WEDDERBURN, Lucy R. et al. International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: A tool for potential use in clinical trial. Arthritis & Rheumatism, v. 57, p. 1192-1201, 2007Tradução . . Disponível em: https://doi.org/10.1002/art.23012. Acesso em: 11 nov. 2024.
APA
Wedderburn, L. R., Varsani, H., Li, C. K. C., Newton, K. R., Amato, A. A., Banwell, B., et al. (2007). International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: A tool for potential use in clinical trial. Arthritis & Rheumatism, 57, 1192-1201. doi:10.1002/art.23012
NLM
Wedderburn LR, Varsani H, Li CKC, Newton KR, Amato AA, Banwell B, Bove KE, Corse AM, Emslie-Smith A, Harding B, Hoogendijk J, Lundberg IE, Marie S, Minetti C, Nennesmo I, Rushing EJ, Sewry C, Charman SC, Pilkington CA, Holton JL. International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: A tool for potential use in clinical trial [Internet]. Arthritis & Rheumatism. 2007 ; 57 1192-1201.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/art.23012
Vancouver
Wedderburn LR, Varsani H, Li CKC, Newton KR, Amato AA, Banwell B, Bove KE, Corse AM, Emslie-Smith A, Harding B, Hoogendijk J, Lundberg IE, Marie S, Minetti C, Nennesmo I, Rushing EJ, Sewry C, Charman SC, Pilkington CA, Holton JL. International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: A tool for potential use in clinical trial [Internet]. Arthritis & Rheumatism. 2007 ; 57 1192-1201.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1002/art.23012
Artigo de periodico
Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers (2005)
Vainzof, Mariz ; Richard, Pascale; Herrmann, Ralf ; Jimenez-Mallebrera, Cecilia ; Talim, Beril ; Yamamoto, Lydia U; Ledeuil, Céline; Mein, Rachael ; Abbs, Stephen ; Brockington, Martin; Romero, Norma B; Zatz, Mayana ; Topaloglu, Haluk ; Voit, Thomas ; Sewry, Caroline ; Muntoni, Francesco ; Guicheney, Pascale ; Tomé, Fernando M.S
Source: Neuromuscular Disorders. Unidade: IB
Subjects: GENÉTICA MÉDICA, DISTROFIA MUSCULAR, PROTEÍNAS MUSCULARES, ACONSELHAMENTO GENÉTICO, DIAGNÓSTICO PRÉ-NATAL
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ABNT
VAINZOF, Mariz et al. Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscular Disorders, v. 15, p. 588-594, 2005Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2005.04.009. Acesso em: 11 nov. 2024.
APA
Vainzof, M., Richard, P., Herrmann, R., Jimenez-Mallebrera, C., Talim, B., Yamamoto, L. U., et al. (2005). Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscular Disorders, 15, 588-594. doi:10.1016/j.nmd.2005.04.009
NLM
Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tomé FMS. Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers [Internet]. Neuromuscular Disorders. 2005 ; 15 588-594.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1016/j.nmd.2005.04.009
Vancouver
Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tomé FMS. Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers [Internet]. Neuromuscular Disorders. 2005 ; 15 588-594.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1016/j.nmd.2005.04.009

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