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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

Jonson, P. H. ; Palmio, J. ; Johari, M. ; Penttilä, S. ; Evilä, A. ; Nelson, I. ; Bonne, G. ; Wiart, N. ; Meyer, V. ; Boland, A. ; Deleuze, J.‐F. ; Masson, C. ; Stojkovic, T. ; Chapon, F. ; Romero, N. B. ; Solé, G. ; Ferrer, X. ; Ferreiro, A. ; Hackman, P. ; Richard, I. ; Udd, B.

European journal of neurology, 2018-05, Vol.25 (5), p.790-794 [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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2
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease
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De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

Rovelet-Lecrux, A ; Charbonnier, C ; Wallon, D ; Nicolas, G ; Seaman, M N J ; Pottier, C ; Breusegem, S Y ; Mathur, P P ; Jenardhanan, P ; Le Guennec, K ; Mukadam, A S ; Quenez, O ; Coutant, S ; Rousseau, S ; Richard, A-C ; Boland, A ; Deleuze, J-F ; Frebourg, T ; Hannequin, D ; Campion, D

Molecular psychiatry, 2015-09, Vol.20 (9), p.1046-1056 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Doublecortin mutation leads to persistent defects in the Golgi apparatus and mitochondria in adult hippocampal pyramidal cells
Doublecortin mutation leads to persistent defects in the Golgi apparatus and mitochondria in adult hippocampal pyramidal cells
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Doublecortin mutation leads to persistent defects in the Golgi apparatus and mitochondria in adult hippocampal pyramidal cells

Stouffer, M.A. ; Khalaf-Nazzal, R. ; Cifuentes-Diaz, C. ; Albertini, G. ; Bandet, E. ; Grannec, G. ; Lavilla, V. ; Deleuze, J.-F. ; Olaso, R. ; Nosten-Bertrand, M. ; Francis, F.

Neurobiology of disease, 2022-06, Vol.168, p.105702-105702, Article 105702 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Parkin mutations are frequent in patients with isolated early‐onset parkinsonism
Parkin mutations are frequent in patients with isolated early‐onset parkinsonism
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Parkin mutations are frequent in patients with isolated early‐onset parkinsonism

Periquet, Magali ; Latouche, Morwena ; Lohmann, Ebba ; Rawal, Nina ; De Michele, Giuseppe ; Ricard, Sylvain ; Teive, Hélio ; Fraix, Valérie ; Vidailhet, Marie ; Nicholl, David ; Barone, Paolo ; Wood, Nick W. ; Raskin, Salmo ; Deleuze, Jean‐François ; Agid, Yves ; Dürr, Alexandra ; Brice, Alexis

Brain (London, England : 1878), 2003-06, Vol.126 (6), p.1271-1278 [Periódico revisado por pares]

Oxford: Oxford University Press

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5
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Schartner, Vanessa ; Romero, Norma B. ; Donkervoort, Sandra ; Treves, Susan ; Munot, Pinki ; Pierson, Tyler Mark ; Dabaj, Ivana ; Malfatti, Edoardo ; Zaharieva, Irina T. ; Zorzato, Francesco ; Abath Neto, Osorio ; Brochier, Guy ; Lornage, Xavière ; Eymard, Bruno ; Taratuto, Ana Lía ; Böhm, Johann ; Gonorazky, Hernan ; Ramos-Platt, Leigh ; Feng, Lucy ; Phadke, Rahul ; Bharucha-Goebel, Diana X. ; Sumner, Charlotte Jane ; Bui, Mai Thao ; Lacene, Emmanuelle ; Beuvin, Maud ; Labasse, Clémence ; Dondaine, Nicolas ; Schneider, Raphael ; Thompson, Julie ; Boland, Anne ; Deleuze, Jean-François ; Matthews, Emma ; Pakleza, Aleksandra Nadaj ; Sewry, Caroline A. ; Biancalana, Valérie ; Quijano-Roy, Susana ; Muntoni, Francesco ; Fardeau, Michel ; Bönnemann, Carsten G. ; Laporte, Jocelyn

Acta neuropathologica, 2017-04, Vol.133 (4), p.517-533 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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6
ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)
ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)
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ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

Lornage, Xavière ; Romero, Norma B. ; Grosgogeat, Claire A. ; Malfatti, Edoardo ; Donkervoort, Sandra ; Marchetti, Michael M. ; Neuhaus, Sarah B. ; Foley, A. Reghan ; Labasse, Clémence ; Schneider, Raphaël ; Carlier, Robert Y. ; Chao, Katherine R. ; Medne, Livija ; Deleuze, Jean-François ; Orlikowski, David ; Bönnemann, Carsten G. ; Gupta, Vandana A. ; Fardeau, Michel ; Böhm, Johann ; Laporte, Jocelyn

Acta neuropathologica, 2019-03, Vol.137 (3), p.501-519 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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7
Heterogeneous firing rate response of mouse layer V pyramidal neurons in the fluctuation‐driven regime
Heterogeneous firing rate response of mouse layer V pyramidal neurons in the fluctuation‐driven regime
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Heterogeneous firing rate response of mouse layer V pyramidal neurons in the fluctuation‐driven regime

Zerlaut, Y. ; Teleńczuk, B. ; Deleuze, C. ; Bal, T. ; Ouanounou, G. ; Destexhe, A.

The Journal of physiology, 2016-07, Vol.594 (13), p.3791-3808 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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8
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Ávila-Polo, Rainiero ; Malfatti, Edoardo ; Lornage, Xavière ; Cheraud, Chrystel ; Nelson, Isabelle ; Nectoux, Juliette ; Böhm, Johann ; Schneider, Raphaël ; Hedberg-Oldfors, Carola ; Eymard, Bruno ; Monges, Soledad ; Lubieniecki, Fabiana ; Brochier, Guy ; Thao Bui, Mai ; Madelaine, Angeline ; Labasse, Clémence ; Beuvin, Maud ; Lacène, Emmanuelle ; Boland, Anne ; Deleuze, Jean-François ; Thompson, Julie ; Richard, Isabelle ; Taratuto, Ana Lía ; Udd, Bjarne ; Leturcq, France ; Bonne, Gisèle ; Oldfors, Anders ; Laporte, Jocelyn ; Romero, Norma Beatriz

Journal of neuropathology and experimental neurology, 2018-12, Vol.77 (12), p.1101-1114 [Periódico revisado por pares]

England: Oxford University Press

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9
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A
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Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A

Mercier, Sandra ; Lornage, Xavière ; Malfatti, Edoardo ; Marcorelles, Pascale ; Letournel, Franck ; Boscher, Cécile ; Caillaux, Gaëlle ; Magot, Armelle ; Böhm, Johann ; Boland, Anne ; Deleuze, Jean-François ; Romero, Norma ; Péréon, Yann ; Laporte, Jocelyn

Neurology, 2017-01, Vol.88 (4), p.414-416 [Periódico revisado por pares]

United States: American Academy of Neurology

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10
Common and variable clinical, histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients
Common and variable clinical, histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients
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Common and variable clinical, histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients

Neto, Osorio Abath ; de Araújo Martins Moreno, Cristiane ; Malfatti, Edoardo ; Donkervoort, Sandra ; Böhm, Johann ; Guimarães, Júlio Brandão ; Foley, A. Reghan ; Mohassel, Payam ; Dastgir, Jahannaz ; Bharucha-Goebel, Diana Xerxes ; Monges, Soledad ; Lubieniecki, Fabiana ; Collins, James ; Medne, Līvija ; Santi, Mariarita ; Yum, Sabrina ; Banwell, Brenda ; Salort-Campana, Emmanuelle ; Rendu, John ; Fauré, Julien ; Yis, Uluc ; Eymard, Bruno ; Cheraud, Chrystel ; Schneider, Raphaël ; Thompson, Julie ; Lornage, Xaviere ; Mesrob, Lilia ; Lechner, Doris ; Boland, Anne ; Deleuze, Jean-François ; Reed, Umbertina Conti ; Oliveira, Acary Souza Bulle ; Biancalana, Valérie ; Romero, Norma B ; Bönemann, Carsten G ; Laporte, Jocelyn ; Zanoteli, Edmar

Neuromuscular disorders : NMD, 2017-11, Vol.27 (11), p.975-985 [Periódico revisado por pares]

England: Elsevier B.V

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