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Dominov, Janice A. [Author]; Uyan, Özgün [Author]; McKenna‐Yasek, Diane [Author]; Nallamilli, Babi Ramesh Reddy [Author]; Kergourlay, Virginie [Author]; Bartoli, Marc [Author]; Levy, Nicolas [Author]; Hudson, Judith [Author]; Evangelista, Teresinha [Author]; Lochmüller, Hanns [Author]; Krahn, Martin [Author]; Rufibach, Laura [Author]; Hegde, Madhuri [Author]; Brown, Robert H. [Author]

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

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Chichester [u.a.]: Wiley, 2019

Published in: Annals of clinical and translational neurology ; 6, 4 (2019), 642-654
Lamy, F.; Ferlini, A.; Evangelista, Teresinha

Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

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Springer Science and Business Media LLC, 2021

Published in: Orphanet Journal of Rare Diseases, 16 (2021) 1
Atalaia, António; Carvalho, Mamede De; Evangelista, Teresinha; Pinto, Anabela

Sleep characteristics of amyotrophic lateral sclerosis in patients with preserved diaphragmatic function

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Informa UK Limited, 2007

Published in: Amyotrophic Lateral Sclerosis, 8 (2007) 2, Seite 101-105
Costa, João; Evangelista, Teresinha; Conceição, Isabel; Carvalho, Mamede de

Repetitive nerve stimulation in myasthenia gravis—relative sensitivity of different muscles

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Elsevier BV, 2004

Published in: Clinical Neurophysiology, 115 (2004) 12, Seite 2776-2782
Carvalho, Mamede de; Evangelista, Teresinha; Sales-Luís, ML

The corticomotor threshold is not dependent on disease duration in amyotrophic lateral sclerosis (ALS)

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Informa UK Limited, 2002

Published in: Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 3 (2002) 1, Seite 39-42
Ricci, Giulia; Cammish, Philip; Siciliano, Gabriele; Tupler, Rossella; Lochmuller, Hanns; Evangelista, Teresinha

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy

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Wiley, 2019

Published in: Muscle & Nerve, 59 (2019) 6, Seite 711-713
McMacken, Grace; Whittaker, Roger G.; Evangelista, Teresinha; Abicht, Angela; Dusl, Marina; Lochmüller, Hanns

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

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Springer Science and Business Media LLC, 2018

Published in: Journal of Neurology, 265 (2018) 1, Seite 194-203
Alrohaif, Hadil; Töpf, Ana; Evangelista, Teresinha; Lek, Monkol; McArthur, Daniel; Lochmüller, Hanns

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

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Ovid Technologies (Wolters Kluwer Health), 2018

Published in: Neurology Genetics, 4 (2018) 2
Hindocha, Akshay; Klimiuk, Peter; Roberts, Mark; Pal, Piyali; Evangelista, Teresinha; Lochmüller, Hanns; Chinoy, Hector

Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy

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Oxford University Press (OUP), 2017

Published in: Rheumatology, 56 (2017) 11, Seite 2034-2035
Abicht, Angela; Evangelista, Teresinha; Spendiff, Sally; Lochmüller, Hanns; McMacken, Grace

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes

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Georg Thieme Verlag KG, 2017

Published in: Neuropediatrics, 48 (2017) 4, Seite 294-308
Evangelista, Teresinha; Hedley, Victoria; Atalaia, Antonio; Johnson, Matt; Lynn, Stephen; Le Cam, Yann; Bushby, Kate

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks

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Springer Science and Business Media LLC, 2016

Published in: Orphanet Journal of Rare Diseases, 11 (2016) 1
Teresinha Costa Silveira Albuquerque; Tennyson Costa Evangelista; Antonio Antero Ribeiro de Albuquerque Neto

Níveis de sombreamento no crescimento de mudas de castanheira do Brasil

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2016

Published in: Agro@mbiente On-line, 9 (2016) 4
Albuquerque, Teresinha Costa Silveira; Evangelista, Tennyson Costa; Albuquerque Neto, Antonio Antero Ribeiro de

Níveis de sombreamento no crescimento de mudas de castanheira do Brasil

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Universidade Federal de Roraima, 2016

Published in: REVISTA AGRO@MBIENTE ON-LINE, 9 (2016) 4, Seite 440
Duarte, Sofia T.; Oliveira, Jorge; Santos, Rośrio; Pereira, Pedro; Barroso, Cândida; Conceição, Isabel; Evangelista, Teresinha

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

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Wiley, 2011

Published in: Muscle & Nerve, 44 (2011) 1, Seite 102-108
Conceição, Isabel; Evangelista, Teresinha; Castro, José; Pereira, Pedro; Silvestre, Ana; Coutinho, Conceição A; de Carvalho, Mamede

Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation

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Wiley, 2010

Published in: Muscle & Nerve, 42 (2010) 5, Seite 836-838
Hasmucrai, Direndra; Mendes, Ana Cristina; Correia, Isabel; Evangelista, Teresinha; de Almeida, António Bugalho

Envolvimento pulmonar na polimiosite

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Elsevier BV, 2010

Published in: Revista Portuguesa de Pneumologia, 16 (2010) 4, Seite 671-677
Direndra Hasmucrai; Ana Cristina Mendes; Isabel Correia; Teresinha Evangelista; António Bugalho de Almeida

Envolvimento pulmonar na polimiosite Pulmonary disease in polymyositis

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2010

Published in: Revista Portuguesa de Pneumologia, 16 (2010) 4, Seite 671-677
de Carvalho, Mamede; Pinto, Susana; Costa, João; Evangelista, Teresinha; Ohana, Bemjamim; Pinto, Anabela

A randomized, placebo-controlled trial of memantine for functional disability in amyotrophic lateral sclerosis

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Informa UK Limited, 2010

Published in: Amyotrophic Lateral Sclerosis, 11 (2010) 5, Seite 456-460
Gouveia, Raquel Gil; Pinto, Anabela; Evangelista, Teresinha; Atalaia, António; Conceição, Isabel; de Carvalho, Mamede

Evidence for central abnormality in respiratory control in primary lateral sclerosis

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Informa UK Limited, 2006

Published in: Amyotrophic Lateral Sclerosis, 7 (2006) 1, Seite 57-60
Palma, Angelina; de Carvalho, Mamede; Barata, Nuno; Evangelista, Teresinha; Chicau, Paula; Regalla, Manuela; Costa, Júlia

Biochemical characterization of plasma in amyotrophic lateral sclerosis: Amino acid and protein composition

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Informa UK Limited, 2005

Published in: Amyotrophic Lateral Sclerosis, 6 (2005) 2, Seite 104-110

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