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Artigo de periodico
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation (2023)
Camelo, Clara Gontijo ; Artilheiro, Mariana Cunha ; Moreno, Cristiane Araujo Martins ; Ferraciolli, Suely Fazio ; Silva, André Macedo Serafim da ; Fernandes, Tatiana Ribeiro; Lucato, Leandro Tavares ; Rocha, Antônio José; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Journal of neuromuscular diseases. Unidade: FM
Subjects: DISTROFIA MUSCULAR, MALFORMAÇÕES, CÉREBRO, VARIAÇÃO GENÉTICA
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ABNT
CAMELO, Clara Gontijo et al. Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation. Journal of neuromuscular diseases, v. 10, n. 4, p. 483-492, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/56122. Acesso em: 19 nov. 2024.
APA
Camelo, C. G., Artilheiro, M. C., Moreno, C. A. M., Ferraciolli, S. F., Silva, A. M. S. da, Fernandes, T. R., et al. (2023). Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation. Journal of neuromuscular diseases, 10( 4), 483-492. doi:10.3233/JND-221638
NLM
Camelo CG, Artilheiro MC, Moreno CAM, Ferraciolli SF, Silva AMS da, Fernandes TR, Lucato LT, Rocha AJ, Reed UC, Zanoteli E. Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation [Internet]. Journal of neuromuscular diseases. 2023 ; 10( 4): 483-492.[citado 2024 nov. 19 ] Available from: https://observatorio.fm.usp.br/handle/OPI/56122
Vancouver
Camelo CG, Artilheiro MC, Moreno CAM, Ferraciolli SF, Silva AMS da, Fernandes TR, Lucato LT, Rocha AJ, Reed UC, Zanoteli E. Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation [Internet]. Journal of neuromuscular diseases. 2023 ; 10( 4): 483-492.[citado 2024 nov. 19 ] Available from: https://observatorio.fm.usp.br/handle/OPI/56122
Artigo de periodico
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies (2022)
Winckler, Pablo Brea; Chwal, Bruna Cristine; Santos, Marco Antonnio Rocha Dos; Burguez, Daniela; Polese-Bonatto, Marcia; Zanoteli, Edmar ; Siebert, Marina; Vairo, Filippo Pinto e; Chaves, Marcia Lorena Fagundes; Saute, Jonas Alex Morales
Source: Neurological sciences. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, DISTROFIA MUSCULAR, DOENÇAS HEREDITÁRIAS
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WINCKLER, Pablo Brea et al. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurological sciences, v. 43, n. 7, p. 4473-4481, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10072-022-05934-y. Acesso em: 19 nov. 2024.
APA
Winckler, P. B., Chwal, B. C., Santos, M. A. R. D., Burguez, D., Polese-Bonatto, M., Zanoteli, E., et al. (2022). Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurological sciences, 43( 7), 4473-4481. doi:10.1007/s10072-022-05934-y
NLM
Winckler PB, Chwal BC, Santos MARD, Burguez D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FP e, Chaves MLF, Saute JAM. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies [Internet]. Neurological sciences. 2022 ; 43( 7): 4473-4481.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s10072-022-05934-y
Vancouver
Winckler PB, Chwal BC, Santos MARD, Burguez D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FP e, Chaves MLF, Saute JAM. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies [Internet]. Neurological sciences. 2022 ; 43( 7): 4473-4481.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s10072-022-05934-y
Artigo de periodico
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study (2022)
Schiava, Marianela; Ikenaga, Chiseko; Villar-Quiles, Rocio Nur; Caballero-Avila, Marta; Topf, Ana; Nishino, Ichizo; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt; Zanoteli, Edmar
Source: Journal of neurology neurosurgery and psychiatry. Unidade: FM
Subjects: ESTUDOS MULTICÊNTRICOS, FENÓTIPOS, GENÓTIPOS, DISTROFIA MUSCULAR
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ABNT
SCHIAVA, Marianela et al. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. Journal of neurology neurosurgery and psychiatry, v. 93, n. 10, p. 1099-1111, 2022Tradução . . Disponível em: https://doi.org/10.1136/jnnp-2022-328921. Acesso em: 19 nov. 2024.
APA
Schiava, M., Ikenaga, C., Villar-Quiles, R. N., Caballero-Avila, M., Topf, A., Nishino, I., et al. (2022). Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. Journal of neurology neurosurgery and psychiatry, 93( 10), 1099-1111. doi:10.1136/jnnp-2022-328921
NLM
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Avila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study [Internet]. Journal of neurology neurosurgery and psychiatry. 2022 ; 93( 10): 1099-1111.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1136/jnnp-2022-328921
Vancouver
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Avila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study [Internet]. Journal of neurology neurosurgery and psychiatry. 2022 ; 93( 10): 1099-1111.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1136/jnnp-2022-328921
Artigo de periodico
Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores (2022)
Aivazoglou, Lais U. ; Guimaraes, Julio B.; Costa, Maria Alice F.; Aihara, André Yui ; Cardoso, Fabiano N ; Pinto, Wladimir B. V. De R.; Souza, Paulo Victor S. de ; Silva, André Macedo Serafim da ; Zanoteli, Edmar ; Oliveira, Acary S. B
Source: Muscle & nerve. Unidade: FM
Subjects: DIAGNÓSTICO CLÍNICO, IMAGEM POR RESSONÂNCIA MAGNÉTICA, DIAGNÓSTICO POR IMAGEM, DISTROFIA MUSCULAR
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ABNT
AIVAZOGLOU, Lais U. et al. Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores. Muscle & nerve, v. 66, n. 4, p. 471-478, 2022Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/50570. Acesso em: 19 nov. 2024.
APA
Aivazoglou, L. U., Guimaraes, J. B., Costa, M. A. F., Aihara, A. Y., Cardoso, F. N., Pinto, W. B. V. D. R., et al. (2022). Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores. Muscle & nerve, 66( 4), 471-478. doi:10.1002/mus.27686
NLM
Aivazoglou LU, Guimaraes JB, Costa MAF, Aihara AY, Cardoso FN, Pinto WBVDR, Souza PVS de, Silva AMS da, Zanoteli E, Oliveira ASB. Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores [Internet]. Muscle & nerve. 2022 ; 66( 4): 471-478.[citado 2024 nov. 19 ] Available from: https://observatorio.fm.usp.br/handle/OPI/50570
Vancouver
Aivazoglou LU, Guimaraes JB, Costa MAF, Aihara AY, Cardoso FN, Pinto WBVDR, Souza PVS de, Silva AMS da, Zanoteli E, Oliveira ASB. Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores [Internet]. Muscle & nerve. 2022 ; 66( 4): 471-478.[citado 2024 nov. 19 ] Available from: https://observatorio.fm.usp.br/handle/OPI/50570
Artigo de periodico
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy (2022)
Magrinelli, Francesca; Cali, Elisa; Braga, Vinicius Lopes; Yis, Uluc; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flavio Moura; Kok, Fernando
Source: Movement disorders clinical practice. Unidade: FM
Subjects: ATROFIA MUSCULAR, DISTROFIA MUSCULAR, FENÓTIPOS, OLHO
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ABNT
MAGRINELLI, Francesca et al. Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. Movement disorders clinical practice, v. 9, n. 2, p. 218-228, 2022Tradução . . Disponível em: https://doi.org/10.1002/mdc3.13398. Acesso em: 19 nov. 2024.
APA
Magrinelli, F., Cali, E., Braga, V. L., Yis, U., Tomoum, H., Shamseldin, H., et al. (2022). Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. Movement disorders clinical practice, 9( 2), 218-228. doi:10.1002/mdc3.13398
NLM
Magrinelli F, Cali E, Braga VL, Yis U, Tomoum H, Shamseldin H, Raiman J, Kernstock C, Rezende Filho FM, Kok F. Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy [Internet]. Movement disorders clinical practice. 2022 ; 9( 2): 218-228.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/mdc3.13398
Vancouver
Magrinelli F, Cali E, Braga VL, Yis U, Tomoum H, Shamseldin H, Raiman J, Kernstock C, Rezende Filho FM, Kok F. Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy [Internet]. Movement disorders clinical practice. 2022 ; 9( 2): 218-228.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/mdc3.13398
Artigo de periodico
Clinical features of collagen VI-related dystrophies: a large Brazilian cohort (2020)
Zanoteli, Edmar ; Soares, Priscilla Souza; Silva, Andre Macedo Serafim da; Camelo, Clara Gontijo; Fonseca, Alulin Tacio Quadros Santos Monteiro; Albuquerque, Marco Antinio Veloso; Moreno, Cristiane Araujo Martins ; Abath Neto, Osorio Lopes; Novo Filho, Gil Monteiro; Kulikowski, Leslie Domenici; Reed, Umbertina Conti
Source: Clinical neurology and neurosurgery. Unidade: FM
Subjects: DOENÇAS MUSCULARES, COLÁGENO, DISTROFIA MUSCULAR
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ABNT
ZANOTELI, Edmar et al. Clinical features of collagen VI-related dystrophies: a large Brazilian cohort. Clinical neurology and neurosurgery, v. 192, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.clineuro.2020.105734. Acesso em: 19 nov. 2024.
APA
Zanoteli, E., Soares, P. S., Silva, A. M. S. da, Camelo, C. G., Fonseca, A. T. Q. S. M., Albuquerque, M. A. V., et al. (2020). Clinical features of collagen VI-related dystrophies: a large Brazilian cohort. Clinical neurology and neurosurgery, 192. doi:10.1016/j.clineuro.2020.105734
NLM
Zanoteli E, Soares PS, Silva AMS da, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Abath Neto OL, Novo Filho GM, Kulikowski LD, Reed UC. Clinical features of collagen VI-related dystrophies: a large Brazilian cohort [Internet]. Clinical neurology and neurosurgery. 2020 ; 192[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.clineuro.2020.105734
Vancouver
Zanoteli E, Soares PS, Silva AMS da, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Abath Neto OL, Novo Filho GM, Kulikowski LD, Reed UC. Clinical features of collagen VI-related dystrophies: a large Brazilian cohort [Internet]. Clinical neurology and neurosurgery. 2020 ; 192[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.clineuro.2020.105734
Artigo de periodico
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy (2019)
Winckler, Pablo B; Silva, Andre M. S. da; Coimbra-Neto, Antonio R; Carvalho, Elmano; Cavalcanti, Eduardo B. U; Sobreira, Claudia F. R; Marrone, Carlo D; Machado-costa, Marcela C; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Clinical genetics. Unidade: FM
Subjects: DISTROFIA MUSCULAR, DIAGNÓSTICO DIFERENCIAL, GENÓTIPOS, FENÓTIPOS, PROGNÓSTICO
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ABNT
WINCKLER, Pablo B et al. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. Clinical genetics, v. 96, n. 4, p. 341-353, 2019Tradução . . Disponível em: https://doi.org/10.1111/cge.13597. Acesso em: 19 nov. 2024.
APA
Winckler, P. B., Silva, A. M. S. da, Coimbra-Neto, A. R., Carvalho, E., Cavalcanti, E. B. U., Sobreira, C. F. R., et al. (2019). Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. Clinical genetics, 96( 4), 341-353. doi:10.1111/cge.13597
NLM
Winckler PB, Silva AMS da, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-costa MC, Reed UC, Zanoteli E. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy [Internet]. Clinical genetics. 2019 ; 96( 4): 341-353.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1111/cge.13597
Vancouver
Winckler PB, Silva AMS da, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-costa MC, Reed UC, Zanoteli E. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy [Internet]. Clinical genetics. 2019 ; 96( 4): 341-353.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1111/cge.13597
Artigo de periodico
Clinical and molecular findings in a cohort of ANO5-related myopathy (2019)
Silva, Andre M. S; Coimbra-neto, Antonio R; Souza, Paulo Victor S; Winckler, Pablo B; Goncalves, Marcus V. M; Cavalcanti, Eduardo B. U; Carvalho, Alzira A. D. S; Sobreire, Claudia F. D. R; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Annals of clinical and translational neurology. Unidade: FM
Subjects: DISTROFIA MUSCULAR, PROTEÍNAS DA MEMBRANA, PROTEÍNAS DE TRANSPORTE, MUTAÇÃO GENÉTICA, DIAGNÓSTICO HISTOLÓGICO, RESSONÂNCIA MAGNÉTICA, ANÁLISE DE SEQUÊNCIA DE DNA
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ABNT
SILVA, Andre M. S et al. Clinical and molecular findings in a cohort of ANO5-related myopathy. Annals of clinical and translational neurology, v. 6, n. 7, p. 1225-1238, 2019Tradução . . Disponível em: https://doi.org/10.1002/acn3.50801. Acesso em: 19 nov. 2024.
APA
Silva, A. M. S., Coimbra-neto, A. R., Souza, P. V. S., Winckler, P. B., Goncalves, M. V. M., Cavalcanti, E. B. U., et al. (2019). Clinical and molecular findings in a cohort of ANO5-related myopathy. Annals of clinical and translational neurology, 6( 7), 1225-1238. doi:10.1002/acn3.50801
NLM
Silva AMS, Coimbra-neto AR, Souza PVS, Winckler PB, Goncalves MVM, Cavalcanti EBU, Carvalho AADS, Sobreire CFDR, Reed UC, Zanoteli E. Clinical and molecular findings in a cohort of ANO5-related myopathy [Internet]. Annals of clinical and translational neurology. 2019 ; 6( 7): 1225-1238.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/acn3.50801
Vancouver
Silva AMS, Coimbra-neto AR, Souza PVS, Winckler PB, Goncalves MVM, Cavalcanti EBU, Carvalho AADS, Sobreire CFDR, Reed UC, Zanoteli E. Clinical and molecular findings in a cohort of ANO5-related myopathy [Internet]. Annals of clinical and translational neurology. 2019 ; 6( 7): 1225-1238.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/acn3.50801
Artigo de periodico-carta/editorial
Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy [Editorial] (2019)
Silva, Andre Macedo Serafim da; Cavalcante, Wagner Cid Palmeira; Camelo, Clara Gontijo; Mendonca, Rodrigo de Holanda; Fortini, Ida; Carvalho, Mary Souza de; Zanoteli, Edmar
Source: Arquivos de Neuro-Psiquiatria. Unidade: FM
Subjects: DISTROFIA MUSCULAR, ABDOME, ASSIMETRIA
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ABNT
SILVA, Andre Macedo Serafim da et al. Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy [Editorial]. Arquivos de Neuro-Psiquiatria. Sao Paulo Sp: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://doi.org/10.1590/0004-282X20190008. Acesso em: 19 nov. 2024. , 2019
APA
Silva, A. M. S. da, Cavalcante, W. C. P., Camelo, C. G., Mendonca, R. de H., Fortini, I., Carvalho, M. S. de, & Zanoteli, E. (2019). Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy [Editorial]. Arquivos de Neuro-Psiquiatria. Sao Paulo Sp: Faculdade de Medicina, Universidade de São Paulo. doi:10.1590/0004-282X20190008
NLM
Silva AMS da, Cavalcante WCP, Camelo CG, Mendonca R de H, Fortini I, Carvalho MS de, Zanoteli E. Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy [Editorial] [Internet]. Arquivos de Neuro-Psiquiatria. 2019 ; 77( 2): 139-139.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/0004-282X20190008
Vancouver
Silva AMS da, Cavalcante WCP, Camelo CG, Mendonca R de H, Fortini I, Carvalho MS de, Zanoteli E. Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy [Editorial] [Internet]. Arquivos de Neuro-Psiquiatria. 2019 ; 77( 2): 139-139.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/0004-282X20190008
Artigo de periodico
Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report (2018)
Carvalho, Alzira Alves de Siqueira; Zanoteli, Edmar
Source: Therapeutics and clinical risk management. Unidade: FM
Subjects: BIÓPSIA, DISTROFIA MUSCULAR, NECROSE, IMUNOGLOBULINAS INTRAVENOSAS, NEOPLASIAS MAMÁRIAS
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ABNT
CARVALHO, Alzira Alves de Siqueira e ZANOTELI, Edmar. Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report. Therapeutics and clinical risk management, v. 14, p. 903-907, 2018Tradução . . Disponível em: https://doi.org/10.2147/TCRM.S162931. Acesso em: 19 nov. 2024.
APA
Carvalho, A. A. de S., & Zanoteli, E. (2018). Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report. Therapeutics and clinical risk management, 14, 903-907. doi:10.2147/TCRM.S162931
NLM
Carvalho AA de S, Zanoteli E. Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report [Internet]. Therapeutics and clinical risk management. 2018 ; 14 903-907.[citado 2024 nov. 19 ] Available from: https://doi.org/10.2147/TCRM.S162931
Vancouver
Carvalho AA de S, Zanoteli E. Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report [Internet]. Therapeutics and clinical risk management. 2018 ; 14 903-907.[citado 2024 nov. 19 ] Available from: https://doi.org/10.2147/TCRM.S162931
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: 19 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. 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 nov. 19 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024
Artigo de periodico
Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives (2017)
Araujo, Alexandra P. Q. C.; Carvalho, Alzira A. S. de; Cavalcanti, Eduardo B. U.; Saute, Jonas Alex M.; Carvalho, Elmano; França Junior, Marcondes C.; Martinez, Alberto R. M.; Navarro, Monica de M. M.; Nucci, Anamarli; Resende, Maria Bernadete D. de; Gonçalves, Marcus Vinicius M.; Gurgel-Giannetti, Juliana; Scola, Rosana H.; Sobreira, Cláudia F. da R.; Reed, Umbertina C.; Zanoteli, Edmar
Source: Arquivos de Neuro-Psiquiatria. Unidades: FM, FMRP
Subjects: DISTROFIA MUSCULAR, CONSENSO, PROGNÓSTICO, HORMÔNIOS DO CÓRTEX ADRENAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ARAUJO, Alexandra P. Q. C. et al. Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives. Arquivos de Neuro-Psiquiatria, v. 75, n. 8, p. 589-599, 2017Tradução . . Disponível em: https://doi.org/10.1590/0004-282x20170112. Acesso em: 19 nov. 2024.
APA
Araujo, A. P. Q. C., Carvalho, A. A. S. de, Cavalcanti, E. B. U., Saute, J. A. M., Carvalho, E., França Junior, M. C., et al. (2017). Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives. Arquivos de Neuro-Psiquiatria, 75( 8), 589-599. doi:10.1590/0004-282x20170112
NLM
Araujo APQC, Carvalho AAS de, Cavalcanti EBU, Saute JAM, Carvalho E, França Junior MC, Martinez ARM, Navarro M de MM, Nucci A, Resende MBD de, Gonçalves MVM, Gurgel-Giannetti J, Scola RH, Sobreira CF da R, Reed UC, Zanoteli E. Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives [Internet]. Arquivos de Neuro-Psiquiatria. 2017 ; 75( 8): 589-599.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/0004-282x20170112
Vancouver
Araujo APQC, Carvalho AAS de, Cavalcanti EBU, Saute JAM, Carvalho E, França Junior MC, Martinez ARM, Navarro M de MM, Nucci A, Resende MBD de, Gonçalves MVM, Gurgel-Giannetti J, Scola RH, Sobreira CF da R, Reed UC, Zanoteli E. Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives [Internet]. Arquivos de Neuro-Psiquiatria. 2017 ; 75( 8): 589-599.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/0004-282x20170112
Artigo de periodico
Clinical and genetic characterization of leukoencephalopathies in adults (2017)
Lynch, David S.; Paiva, Anderson Rodrigues Brandão de; Zhang, Wei Jia; Bugiardini, Enrico; Freua, Fernando; Lucato, Leandro Tavares; Macedo-Souza, Lucia Inês; Lakshmanan, Rahul; Kinsella, Justin A.; Aine Merwick; Rossor, Alexander M.; Bajaj, Nin; Herron, Brian; McMonagle, Paul; Morrison. Patrick J.; Hughes, Deborah; Pittman, Alan; Laurà, Matilde; Reilly. Mary M.; Warren, Jason D.; Mummery, Catherine J.; Schott, Jonathan M.; Adams, Matthew; Fox, Nick C.; Murphy, Elaine; Davagnanam, Indran; Kok, Fernando; Chataway, Jeremy; Houlden, Henry
Source: Brain. Unidade: FM
Subjects: DISTROFIA MUSCULAR, MUTAÇÃO GENICA, DOENÇAS NEURODEGENERATIVAS, SINAIS E SINTOMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LYNCH, David S. et al. Clinical and genetic characterization of leukoencephalopathies in adults. Brain, v. 140, n. 5, p. 1204-1211, 2017Tradução . . Disponível em: https://doi.org/10.1093/brain/awx045. Acesso em: 19 nov. 2024.
APA
Lynch, D. S., Paiva, A. R. B. de, Zhang, W. J., Bugiardini, E., Freua, F., Lucato, L. T., et al. (2017). Clinical and genetic characterization of leukoencephalopathies in adults. Brain, 140( 5), 1204-1211. doi:10.1093/brain/awx045
NLM
Lynch DS, Paiva ARB de, Zhang WJ, Bugiardini E, Freua F, Lucato LT, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Aine Merwick, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison. Patrick J., Hughes D, Pittman A, Laurà M, Reilly. Mary M., Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H. Clinical and genetic characterization of leukoencephalopathies in adults [Internet]. Brain. 2017 ; 140( 5): 1204-1211.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1093/brain/awx045
Vancouver
Lynch DS, Paiva ARB de, Zhang WJ, Bugiardini E, Freua F, Lucato LT, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Aine Merwick, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison. Patrick J., Hughes D, Pittman A, Laurà M, Reilly. Mary M., Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H. Clinical and genetic characterization of leukoencephalopathies in adults [Internet]. Brain. 2017 ; 140( 5): 1204-1211.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1093/brain/awx045
Parte de monografia/livro
Miopatias (2016)
Zanoteli, Edmar; Carvalho, Mary Souza de
Source: Clínica Médica/vol. 6. Unidade: FM
Subjects: DOENÇAS NEUROMUSCULARES (DIAGNÓSTICO), MIOPATIAS CONGÊNITAS ESTRUTURAIS (CLASSIFICAÇÃO), DISTROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZANOTELI, Edmar e CARVALHO, Mary Souza de. Miopatias. Clínica Médica/vol. 6. Tradução . Barueri, SP: Manole, 2016. . . Acesso em: 19 nov. 2024.
APA
Zanoteli, E., & Carvalho, M. S. de. (2016). Miopatias. In Clínica Médica/vol. 6. Barueri, SP: Manole.
NLM
Zanoteli E, Carvalho MS de. Miopatias. In: Clínica Médica/vol. 6. Barueri, SP: Manole; 2016. [citado 2024 nov. 19 ]
Vancouver
Zanoteli E, Carvalho MS de. Miopatias. In: Clínica Médica/vol. 6. Barueri, SP: Manole; 2016. [citado 2024 nov. 19 ]
Artigo de periodico
Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers (2015)
Moura, Maria Clara Drummond Soares de; Reed, Umbertina Conti; Voos, Mariana Calil; Wutzki, Hanna Camila; Resende, Maria Bernadete Dutra; Hasue, Renata Hydee
Source: Arquivos de Neuro-Psiquiatria. Unidade: FM
Subjects: DISTROFIA MUSCULAR, ATIVIDADE MOTORA, QUALIDADE DE VIDA, CUIDADORES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOURA, Maria Clara Drummond Soares de et al. Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers. Arquivos de Neuro-Psiquiatria, v. 73, n. 1, p. 52-57, 2015Tradução . . Disponível em: https://doi.org/10.1590/0004-282X20140194. Acesso em: 19 nov. 2024.
APA
Moura, M. C. D. S. de, Reed, U. C., Voos, M. C., Wutzki, H. C., Resende, M. B. D., & Hasue, R. H. (2015). Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers. Arquivos de Neuro-Psiquiatria, 73( 1), 52-57. doi:10.1590/0004-282X20140194
NLM
Moura MCDS de, Reed UC, Voos MC, Wutzki HC, Resende MBD, Hasue RH. Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers [Internet]. Arquivos de Neuro-Psiquiatria. 2015 ; 73( 1): 52-57.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/0004-282X20140194
Vancouver
Moura MCDS de, Reed UC, Voos MC, Wutzki HC, Resende MBD, Hasue RH. Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers [Internet]. Arquivos de Neuro-Psiquiatria. 2015 ; 73( 1): 52-57.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/0004-282X20140194
Parte de monografia/livro
Miopatias e miastenia (2015)
Zanoteli, Edmar; Souza, Gustavo Emílio Linhares de
Source: A neurologia que todo médico deve saber. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, DISTROFIA MUSCULAR, CARBOIDRATOS, MITOCÔNDRIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZANOTELI, Edmar e SOUZA, Gustavo Emílio Linhares de. Miopatias e miastenia. A neurologia que todo médico deve saber. Tradução . São Paulo: Editora Atheneu, 2015. . . Acesso em: 19 nov. 2024.
APA
Zanoteli, E., & Souza, G. E. L. de. (2015). Miopatias e miastenia. In A neurologia que todo médico deve saber. São Paulo: Editora Atheneu.
NLM
Zanoteli E, Souza GEL de. Miopatias e miastenia. In: A neurologia que todo médico deve saber. São Paulo: Editora Atheneu; 2015. [citado 2024 nov. 19 ]
Vancouver
Zanoteli E, Souza GEL de. Miopatias e miastenia. In: A neurologia que todo médico deve saber. São Paulo: Editora Atheneu; 2015. [citado 2024 nov. 19 ]
Artigo de periodico
Clinical aspects of patients with sarcoglycanopathies under steroids therapy (2014)
Albuquerque, Marco A. V.; Abath-Neto, Osório; Maximino, Jéssica R.; Chadi, Gerson; Zanoteli, Edmar; Reed, Umbertina C.
Source: Arquivos de Neuro-Psiquiatria. Unidade: FM
Subjects: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA, DOENÇAS MUSCULARES, ESTEROIDES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ALBUQUERQUE, Marco A. V. et al. Clinical aspects of patients with sarcoglycanopathies under steroids therapy. Arquivos de Neuro-Psiquiatria, v. 72, n. 10, p. 768-772, 2014Tradução . . Disponível em: https://doi.org/10.1590/0004-282X20140126. Acesso em: 19 nov. 2024.
APA
Albuquerque, M. A. V., Abath-Neto, O., Maximino, J. R., Chadi, G., Zanoteli, E., & Reed, U. C. (2014). Clinical aspects of patients with sarcoglycanopathies under steroids therapy. Arquivos de Neuro-Psiquiatria, 72( 10), 768-772. doi:10.1590/0004-282X20140126
NLM
Albuquerque MAV, Abath-Neto O, Maximino JR, Chadi G, Zanoteli E, Reed UC. Clinical aspects of patients with sarcoglycanopathies under steroids therapy [Internet]. Arquivos de Neuro-Psiquiatria. 2014 ; 72( 10): 768-772.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/0004-282X20140126
Vancouver
Albuquerque MAV, Abath-Neto O, Maximino JR, Chadi G, Zanoteli E, Reed UC. Clinical aspects of patients with sarcoglycanopathies under steroids therapy [Internet]. Arquivos de Neuro-Psiquiatria. 2014 ; 72( 10): 768-772.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/0004-282X20140126
Artigo de periodico
Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort (2014)
Pasqualin, Lívia M. A.; Reed, Umbertina C.; Costa, Thais V. M. M.; Quedas, Elisângela; Albuquerque, Marco A .V.; Resende, Maria B. D.; Franzon, Renata C.; Rutkowski, Anne; Chadi, Gerson; Zanoteli, Edmar
Source: Pediatric Neurology. Unidade: FM
Subjects: PEDIATRIA, MUTAÇÃO GENÉTICA, DISTROFIA MUSCULAR, DOENÇAS CONGÊNITAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PASQUALIN, Lívia M. A. et al. Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort. Pediatric Neurology, v. 50, n. 4, p. 400-406, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.pediatrneurol.2013.11.010. Acesso em: 19 nov. 2024.
APA
Pasqualin, L. M. A., Reed, U. C., Costa, T. V. M. M., Quedas, E., Albuquerque, M. A. .V., Resende, M. B. D., et al. (2014). Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort. Pediatric Neurology, 50( 4), 400-406. doi:10.1016/j.pediatrneurol.2013.11.010
NLM
Pasqualin LMA, Reed UC, Costa TVMM, Quedas E, Albuquerque MA .V, Resende MBD, Franzon RC, Rutkowski A, Chadi G, Zanoteli E. Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort [Internet]. Pediatric Neurology. 2014 ; 50( 4): 400-406.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.pediatrneurol.2013.11.010
Vancouver
Pasqualin LMA, Reed UC, Costa TVMM, Quedas E, Albuquerque MA .V, Resende MBD, Franzon RC, Rutkowski A, Chadi G, Zanoteli E. Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort [Internet]. Pediatric Neurology. 2014 ; 50( 4): 400-406.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.pediatrneurol.2013.11.010
Artigo de periodico
Phenotypic Intermediate Forms Overlapping to Emery-Dreifuss and Limb Girdle Muscular Dystrophies Caused by Lamin A/C Gene Mutations (2014)
Albuquerque, Marco A. V.; Pasqualin, Lívia M.; Martins, Cristiane A.; Reed, Umbertina C.; Zanoteli, Edmar
Source: Pediatric Neurology. Unidade: FM
Subjects: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA, MÚSCULO ESQUELÉTICO (ANORMALIDADES)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ALBUQUERQUE, Marco A. V. et al. Phenotypic Intermediate Forms Overlapping to Emery-Dreifuss and Limb Girdle Muscular Dystrophies Caused by Lamin A/C Gene Mutations. Pediatric Neurology, v. 50, n. 5, p. e11-e12, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.pediatrneurol.2014.01.036. Acesso em: 19 nov. 2024.
APA
Albuquerque, M. A. V., Pasqualin, L. M., Martins, C. A., Reed, U. C., & Zanoteli, E. (2014). Phenotypic Intermediate Forms Overlapping to Emery-Dreifuss and Limb Girdle Muscular Dystrophies Caused by Lamin A/C Gene Mutations. Pediatric Neurology, 50( 5), e11-e12. doi:10.1016/j.pediatrneurol.2014.01.036
NLM
Albuquerque MAV, Pasqualin LM, Martins CA, Reed UC, Zanoteli E. Phenotypic Intermediate Forms Overlapping to Emery-Dreifuss and Limb Girdle Muscular Dystrophies Caused by Lamin A/C Gene Mutations [Internet]. Pediatric Neurology. 2014 ; 50( 5): e11-e12.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.pediatrneurol.2014.01.036
Vancouver
Albuquerque MAV, Pasqualin LM, Martins CA, Reed UC, Zanoteli E. Phenotypic Intermediate Forms Overlapping to Emery-Dreifuss and Limb Girdle Muscular Dystrophies Caused by Lamin A/C Gene Mutations [Internet]. Pediatric Neurology. 2014 ; 50( 5): e11-e12.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.pediatrneurol.2014.01.036
Trabalho de evento-resumo periodico
Nesprin-2 (SYNE2) gene mutation causing an Emery-Dreifuss muscular dystrophy phenotype (2014)
Abath Neto, O.; Estephan, E.; Martins, C. A.; Reed, U. C.; Oliveira, A. S. B.; Laporte, J.; Zanoteli, E.
Source: Arquivos de Neuro-Psiquiatria. Conference titles: Congresso Brasileiro de Neurologia. Unidade: FM
Subjects: DISTROFIA MUSCULAR, FENÓTIPOS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ABATH NETO, O. et al. Nesprin-2 (SYNE2) gene mutation causing an Emery-Dreifuss muscular dystrophy phenotype. Arquivos de Neuro-Psiquiatria. São Paulo: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 19 nov. 2024. , 2014
APA
Abath Neto, O., Estephan, E., Martins, C. A., Reed, U. C., Oliveira, A. S. B., Laporte, J., & Zanoteli, E. (2014). Nesprin-2 (SYNE2) gene mutation causing an Emery-Dreifuss muscular dystrophy phenotype. Arquivos de Neuro-Psiquiatria. São Paulo: Faculdade de Medicina, Universidade de São Paulo.
NLM
Abath Neto O, Estephan E, Martins CA, Reed UC, Oliveira ASB, Laporte J, Zanoteli E. Nesprin-2 (SYNE2) gene mutation causing an Emery-Dreifuss muscular dystrophy phenotype. Arquivos de Neuro-Psiquiatria. 2014 ; 72 96.[citado 2024 nov. 19 ]
Vancouver
Abath Neto O, Estephan E, Martins CA, Reed UC, Oliveira ASB, Laporte J, Zanoteli E. Nesprin-2 (SYNE2) gene mutation causing an Emery-Dreifuss muscular dystrophy phenotype. Arquivos de Neuro-Psiquiatria. 2014 ; 72 96.[citado 2024 nov. 19 ]

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