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1
Neuromuscular Disease: A Case-Based Approach
Neuromuscular Disease: A Case-Based Approach
Material Type:
Livro 		Adicionar ao Meu Espaço

Neuromuscular Disease: A Case-Based Approach

John H. J. Wokke Pieter A van Doorn; Marianne de Visser; Jessica E Hoogendijk

Cambridge University Press 2013

Acesso online

2
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

BLITTERSWIJK, Marka Van ; ES, Michael A. Van ; DE BAKKER, Paul I. W ; VELDINK, Jan H ; DEN BERG, Leonard H. Van ; HENNEKAM, Eric A. M ; DOOIJES, Dennis ; RHEENEN, Wouter Van ; MEDIC, Jelena ; BOURQUE, Pierre R ; SCHELHAAS, Helenius J ; DER KOOI, Anneke J. Van ; DE VISSER, Marianne

Human molecular genetics, 2012-09, Vol.21 (17), p.3776-3784 [Periódico revisado por pares]

Oxford: Oxford University Press

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3
New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy)
New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy)
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Artigo 		Adicionar ao Meu Espaço

New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy)

Federico, Antonio ; de Visser, Marianne

Neurological sciences, 2021-07, Vol.42 (7), p.2603-2606 [Periódico revisado por pares]

Cham: Springer International Publishing

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4
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies
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Artigo 		Adicionar ao Meu Espaço

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

ten Dam, Leroy ; van der Kooi, Anneke J ; Rövekamp, Fleur ; Linssen, Wim H.J.P ; de Visser, Marianne

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1097-1102 [Periódico revisado por pares]

England: Elsevier B.V

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5
The cognitive profile of ALS: a systematic review and meta-analysis update
The cognitive profile of ALS: a systematic review and meta-analysis update
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Artigo 		Adicionar ao Meu Espaço

The cognitive profile of ALS: a systematic review and meta-analysis update

Beeldman, Emma ; Raaphorst, Joost ; Klein Twennaar, Michelle ; de Visser, Marianne ; Schmand, Ben A ; de Haan, Rob J

Journal of Neurology, Neurosurgery and Psychiatry, 2016-06, Vol.87 (6), p.611-619 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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6
Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene ( MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)
Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene ( MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene ( MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Meredith, Christopher ; Herrmann, Ralf ; Parry, Cheryl ; Liyanage, Khema ; Dye, Danielle E. ; Durling, Hayley J. ; Duff, Rachael M. ; Beckman, Kaye ; de Visser, Marianne ; van der Graaff, Maaike M. ; Hedera, Peter ; Fink, John K. ; Petty, Elizabeth M. ; Lamont, Phillipa ; Fabian, Vicki ; Bridges, Leslie ; Voit, Thomas ; Mastaglia, Frank L. ; Laing, Nigel G.

American journal of human genetics, 2004-10, Vol.75 (4), p.703-708 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
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229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Straub, Volker ; Murphy, Alexander ; Udd, Bjarne ; Corrado, Angelini ; Aymé, Ségolène ; Bönneman, Carsten ; de Visser, Marianne ; Hamosh, Ada ; Jacobs, Laura ; Khizanishvili, Nina ; Kroneman, Madelon ; Laflorêt, Pascal ; Murphy, Alex ; Nigro, Vincenzo ; Rufibach, Laura ; Sarkozy, Anna ; Swanepoel, Shaun ; Torrente, Ivan ; Udd, Bjarne ; Urtizberea, Andoni ; Vissing, John ; Walter, Maggie

Neuromuscular disorders : NMD, 2018-08, Vol.28 (8), p.702-710 [Periódico revisado por pares]

England: Elsevier B.V

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8
239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018
239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018
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Artigo 		Adicionar ao Meu Espaço

239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018

Mammen, Andrew L. ; Allenbach, Yves ; Stenzel, Werner ; Benveniste, Olivier ; Allenbach, Yves ; Benveniste, Olivier ; Bleecker, Jan De ; Boyer, Olivier ; Casciola-Rosen, Livia ; Christopher-Stine, Lisa ; Damoiseaux, Jan ; Gitiaux, Cyril ; Fujimoto, Manabu ; Lamb, Janine ; Landon-Cardinal, Océane ; E. Lundberg, Ingrid ; Mammen, Andrew ; Nishino, Ichizo ; Radke, Josefine ; Selva-O'Callaghan, Albert ; Stenzel, Werner ; Vencovsky, Jiri ; de Visser, Marianne ; Wang, Guochun ; Wedderburn, Lucy ; Werth, Victoria

Neuromuscular disorders : NMD, 2020-01, Vol.30 (1), p.70-92 [Periódico revisado por pares]

England: Elsevier B.V

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9
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
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Artigo 		Adicionar ao Meu Espaço

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Engelen, Marc ; Kemp, Stephan ; de Visser, Marianne ; van Geel, Björn M ; Wanders, Ronald J A ; Aubourg, Patrick ; Poll-The, Bwee Tien

Orphanet journal of rare diseases, 2012-08, Vol.7 (1), p.51-51 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Editorial: Palliative Care in Neurology, Volume II
Editorial: Palliative Care in Neurology, Volume II
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Editorial: Palliative Care in Neurology, Volume II

Oliver, David ; de Visser, Marianne ; Voltz, Raymond

Frontiers in neurology, 2022-02, Vol.13, p.840110-840110 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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Deste Autor:

  1. Hoogendijk, J
  2. de Visser, M
  3. van Doorn, P
  4. Wokke, J

Neste Assunto:

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

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

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