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Multi-system neurological disease is common in patients with OPA1 mutations
Multi-system neurological disease is common in patients with OPA1 mutations
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Artigo 		Adicionar ao Meu Espaço

Multi-system neurological disease is common in patients with OPA1 mutations

P. Yu Wai Man P. G Griffiths; G. S Gorman; C. M Lourenço; A. F Wright; M. Auer Grumbach; A Toscano; O Musumeci; M. L Valentino; L Caporali; C Lamperti; C. M Tallaksen; P Duffey; J Miller; R. G Whittaker; M. R Baker; M. J Jackson; M. P Clarke; B Dhillon; B Czermin; J. D Stewart; G Hudson; P Reynier; D Bonneaus; Wilson Marques Júnior; G Lenaers; R McFarland; R. W Taylor; D. M Turnbull; M Votruba; M Zeviani; V Carelli; L. A Bindoff; R Horvath; P. Amati Bonneau; P. F Chinnery

Brain Oxford v. 133, n. 3, p. 771-786, 2010

Oxford 2010

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2166325 estantes deslizantes )(Acessar)

2
Multi-system neurological disease is common in patients with OPA1 mutations
Multi-system neurological disease is common in patients with OPA1 mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Multi-system neurological disease is common in patients with OPA1 mutations

P. Yu Wai Man P. G Griffiths; G. S Gorman; C. M Lourenço; A. F Wright; M. Auer Grumbach; A Toscano; O Musumeci; M. L Valentino; L Caporali; C Lamperti; C. M Tallaksen; P Duffey; J Miller; R. G Whittaker; M. R Baker; M. J Jackson; M. P Clarke; B Dhillon; B Czermin; J. D Stewart; G Hudson; P Reynier; D Bonneaus; Wilson Marques Júnior; G Lenaers; R McFarland; R. W Taylor; D. M Turnbull; M Votruba; M Zeviani; V Carelli; L. A Bindoff; R Horvath; P. Amati Bonneau; P. F Chinnery

Brain Oxford v. 133, n. 3, p. 771-786, 2010

Oxford 2010

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2166325 estantes deslizantes )(Acessar)

3
Multi-system neurological disease is common in patients with OPA1 mutations
Multi-system neurological disease is common in patients with OPA1 mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Multi-system neurological disease is common in patients with OPA1 mutations

Yu-Wai-Man, P. ; Griffiths, P.G. ; Gorman, G.S. ; Lourenco, C.M. ; Wright, A.F. ; Auer-Grumbach, M. ; Toscano, A. ; Musumeci, O. ; Valentino, M.L. ; Caporali, L. ; Lamperti, C. ; Tallaksen, C.M. ; Duffey, P. ; Miller, J. ; Whittaker, R.G. ; Baker, M.R. ; Jackson, M.J. ; Clarke, M.P. ; Dhillon, B. ; Czermin, B. ; Stewart, J.D. ; Hudson, G. ; Reynier, P. ; Bonneau, D. ; Marques, W. ; Lenaers, G. ; McFarland, R. ; Taylor, R.W. ; Turnbull, D.M. ; Votruba, M. ; Zeviani, M. ; Carelli, V. ; Bindoff, L.A. ; Horvath, R. ; Amati-Bonneau, P. ; Chinnery, P.F.

Brain (London, England : 1878), 2010-03, Vol.133 (3), p.771-786 [Periódico revisado por pares]

Oxford: Oxford University Press

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4
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
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Artigo 		Adicionar ao Meu Espaço

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40

Morgan, Angela T ; Scerri, Thomas S ; Vogel, Adam P ; Reid, Christopher A ; Quach, Mara ; Jackson, Victoria E ; McKenzie, Chaseley ; Burrows, Emma L ; Bennett, Mark F ; Turner, Samantha J ; Reilly, Sheena ; Horton, Sarah E ; Block, Susan ; Kefalianos, Elaina ; Frigerio-Domingues, Carlos ; Sainz, Eduardo ; Rigbye, Kristin A ; Featherby, Travis J ; Richards, Kay L ; Kueh, Andrew ; Herold, Marco J ; Corbett, Mark A ; Gecz, Jozef ; Helbig, Ingo ; Thompson-Lake, Daisy G Y ; Liégeois, Frédérique J ; Morell, Robert J ; Hung, Andrew ; Drayna, Dennis ; Scheffer, Ingrid E ; Wright, David K ; Bahlo, Melanie ; Hildebrand, Michael S

Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5086-5097 [Periódico revisado por pares]

England

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5
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Wang, Haicui ; Salter, Claire G ; Refai, Osama ; Hardy, Holly ; Barwick, Katy E S ; Akpulat, Ugur ; Kvarnung, Malin ; Chioza, Barry A ; Harlalka, Gaurav ; Taylan, Fulya ; Sejersen, Thomas ; Wright, Jane ; Zimmerman, Holly H ; Karakaya, Mert ; Stüve, Burkhardt ; Weis, Joachim ; Schara, Ulrike ; Russell, Mark A ; Abdul-Rahman, Omar A ; Chilton, John ; Blakely, Randy D ; Baple, Emma L ; Cirak, Sebahattin ; Crosby, Andrew H

Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2838-2850 [Periódico revisado por pares]

England: Oxford University Press

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6
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

Parrini, E. ; Ramazzotti, A. ; Dobyns, W. B. ; Mei, D. ; Moro, F. ; Veggiotti, P. ; Marini, C. ; Brilstra, E. H. ; Bernardina, B. Dalla ; Goodwin, L. ; Bodell, A. ; Jones, M. C. ; Nangeroni, M. ; Palmeri, S. ; Said, E. ; Sander, J. W. ; Striano, P. ; Takahashi, Y. ; Van Maldergem, L. ; Leonardi, G. ; Wright, M. ; Walsh, C. A. ; Guerrini, R.

Brain (London, England : 1878), 2006-07, Vol.129 (7), p.1892-1906 [Periódico revisado por pares]

Oxford: Oxford University Press

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7
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Levitin, Maria O ; Rawlins, Lettie E ; Sanchez-Andrade, Gabriela ; Arshad, Osama A ; Collins, Stephan C ; Sawiak, Stephen J ; Iffland, Phillip H ; Andersson, Malin H L ; Bupp, Caleb ; Cambridge, Emma L ; Coomber, Eve L ; Ellis, Ian ; Herkert, Johanna C ; Ironfield, Holly ; Jory, Logan ; Kretz, Perrine F ; Kant, Sarina G ; Neaverson, Alexandra ; Nibbeling, Esther ; Rowley, Christine ; Relton, Emily ; Sanderson, Mark ; Scott, Ethan M ; Stewart, Helen ; Shuen, Andrew Y ; Schreiber, John ; Tuck, Liz ; Tonks, James ; Terkelsen, Thorkild ; van Ravenswaaij-Arts, Conny ; Vasudevan, Pradeep ; Wenger, Olivia ; Wright, Michael ; Day, Andrew ; Hunter, Adam ; Patel, Minal ; Lelliott, Christopher J ; Crino, Peter B ; Yalcin, Binnaz ; Crosby, Andrew H ; Baple, Emma L ; Logan, Darren W ; Hurles, Matthew E ; Gerety, Sebastian S

Brain (London, England : 1878), 2023-11, Vol.146 (11), p.4766-4783 [Periódico revisado por pares]

US: Oxford University Press

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Deste Autor:

  1. Stewart, J
  2. Whittaker, R
  3. Lamperti, C
  4. Caporali, L
  5. Carelli, V

Neste Assunto:

  1. Clinical Neurology
  2. Neurosciences
  3. Life Sciences & Biomedicine
  4. Science & Technology
  5. Neurosciences & Neurology

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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