Pesquisa | Portal de Pesquisa da BVS

1.

Isolated bulbar palsy and dysphagia in children with respiratory symptoms.

Zimmels, Stacey; Balfour-Lynn, Ian M; Christodoulou, Loucas; Pantazi, Mantha; Pavlidou, Efterpi; Pitt, Matthew; Kinali, Maria; Ismayilova, Naila.

Dev Med Child Neurol ; 64(4): 518-522, 2022 04.

Artigo em Inglês | MEDLINE | ID: mdl-34601721

2.

Early electrodiagnosis in the management of neonatal brachial plexus palsy: A systematic review.

van der Looven, Ruth; Le Roy, Laura; Tanghe, Emma; van den Broeck, Christine; de Muynck, Martine; Vingerhoets, Guy; Pitt, Matthew; Vanderstraeten, Guy.

Muscle Nerve ; 61(5): 557-566, 2020 05.

Artigo em Inglês | MEDLINE | ID: mdl-31743456

3.

A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.

Zambon, Alberto A; Pitt, Matthew; Laurà, Matilde; Polke, James M; Reilly, Mary M; Muntoni, Francesco.

J Peripher Nerv Syst ; 25(3): 303-307, 2020 09.

Artigo em Inglês | MEDLINE | ID: mdl-32412171

4.

Acquired neuromyotonia in children with CASPR2 and LGI1 antibodies.

Surana, Snehal; Kumar, Ratna; Pitt, Matthew; Hafner, Patricia; Mclellan, Ailsa; Davidson, Joyce; Prabakhar, Prab; Vincent, Angela; Hacohen, Yael; Wright, Sukhvir.

Dev Med Child Neurol ; 61(11): 1344-1347, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-30724344

5.

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.

Salpietro, Vincenzo; Lin, Weichun; Delle Vedove, Andrea; Storbeck, Markus; Liu, Yun; Efthymiou, Stephanie; Manole, Andreea; Wiethoff, Sarah; Ye, Qiaohong; Saggar, Anand; McElreavey, Kenneth; Krishnakumar, Shyam S; Pitt, Matthew; Bello, Oscar D; Rothman, James E; Basel-Vanagaite, Lina; Hubshman, Monika Weisz; Aharoni, Sharon; Manzur, Adnan Y; Wirth, Brunhilde; Houlden, Henry.

Ann Neurol ; 81(4): 597-603, 2017 04.

Artigo em Inglês | MEDLINE | ID: mdl-28253535

6.

Neurophysiological Assessment of Abnormalities of the Neuromuscular Junction in Children.

Pitt, Matthew.

Int J Mol Sci ; 19(2)2018 Feb 22.

Artigo em Inglês | MEDLINE | ID: mdl-29470437

7.

Use of stimulated electromyography in the analysis of the neuromuscular junction in children.

Pitt, Matthew C.

Muscle Nerve ; 56(5): 841-847, 2017 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-28480963

8.

Determining jitter values in the very young by use of the e-norms methodology.

Pitt, Matthew C; Jabre, Joe F.

Muscle Nerve ; 55(1): 51-54, 2017 01.

Artigo em Inglês | MEDLINE | ID: mdl-27184476

9.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva, Irina T; Thor, Michael G; Oates, Emily C; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D'Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A; Morgan, Jennifer E; Laing, Nigel G; Vallance, Hilary; Ruben, Peter; Hanna, Michael G; Lewis, Suzanne; Kamsteeg, Erik-Jan; Männikkö, Roope; Muntoni, Francesco.

Brain ; 139(Pt 3): 674-91, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-26700687

10.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Rodríguez Cruz, Pedro M; Belaya, Katsiaryna; Basiri, Keivan; Sedghi, Maryam; Farrugia, Maria Elena; Holton, Janice L; Liu, Wei Wei; Maxwell, Susan; Petty, Richard; Walls, Timothy J; Kennett, Robin; Pitt, Matthew; Sarkozy, Anna; Parton, Matt; Lochmüller, Hanns; Muntoni, Francesco; Palace, Jacqueline; Beeson, David.

J Neurol Neurosurg Psychiatry ; 87(8): 802-9, 2016 08.

Artigo em Inglês | MEDLINE | ID: mdl-27147698

11.

The effect of different low-frequency filters on concentric needle jitter in stimulated orbicularis oculi.

Patel, Anjla; Gosk, Magdalena; Pitt, Matthew.

Muscle Nerve ; 54(2): 317-9, 2016 08.

Artigo em Inglês | MEDLINE | ID: mdl-27159824

12.

Perception of pain during electromyography in children: A prospective study.

Alshaikh, Nahla M; Martinez, Jeimmy Pinzon; Pitt, Matthew C.

Muscle Nerve ; 54(3): 422-6, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-26852012

13.

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

Belaya, Katsiaryna; Rodríguez Cruz, Pedro M; Liu, Wei Wei; Maxwell, Susan; McGowan, Simon; Farrugia, Maria E; Petty, Richard; Walls, Timothy J; Sedghi, Maryam; Basiri, Keivan; Yue, Wyatt W; Sarkozy, Anna; Bertoli, Marta; Pitt, Matthew; Kennett, Robin; Schaefer, Andrew; Bushby, Kate; Parton, Matt; Lochmüller, Hanns; Palace, Jacqueline; Muntoni, Francesco; Beeson, David.

Brain ; 138(Pt 9): 2493-504, 2015 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-26133662

14.

Neuropathy after sodium tetradecyl sulfate sclerotherapy of venous malformations in children.

Stuart, Sam; Barnacle, Alex M; Smith, Gillian; Pitt, Matthew; Roebuck, Derek J.

Radiology ; 274(3): 897-905, 2015 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25271855

15.

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

Dafsari, Hormos Salimi; Byrne, Susan; Lin, Jean-Pierre; Pitt, Matthew; Jongbloed, Jan Dh; Flinter, Frances; Jungbluth, Heinz.

Am J Med Genet A ; 167(6): 1300-4, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25846562

16.

Response to the "letter to editor": Critical appraisal of systematic review.

Van der Looven, Ruth; Pitt, Matthew.

Muscle Nerve ; 62(4): E72-E73, 2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-32572968

17.

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Mills, Philippa B; Camuzeaux, Stephane S M; Footitt, Emma J; Mills, Kevin A; Gissen, Paul; Fisher, Laura; Das, Krishna B; Varadkar, Sophia M; Zuberi, Sameer; McWilliam, Robert; Stödberg, Tommy; Plecko, Barbara; Baumgartner, Matthias R; Maier, Oliver; Calvert, Sophie; Riney, Kate; Wolf, Nicole I; Livingston, John H; Bala, Pronab; Morel, Chantal F; Feillet, François; Raimondi, Francesco; Del Giudice, Ennio; Chong, W Kling; Pitt, Matthew; Clayton, Peter T.

Brain ; 137(Pt 5): 1350-60, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24645144

18.

Update in electromyography.

Pitt, Matthew.

Curr Opin Pediatr ; 25(6): 676-81, 2013 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-24136299

19.

Reply.

Pitt, Matthew; Jabre, Joe.

Muscle Nerve ; 55(1): 140, 2017 01.

Artigo em Inglês | MEDLINE | ID: mdl-27389934

20.

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

Glamuzina, Emma; Brown, Ruth; Hogarth, Kieran; Saunders, Dawn; Russell-Eggitt, Isabelle; Pitt, Matthew; de Sousa, Carlos; Rahman, Shamima; Brown, Garry; Grunewald, Stephanie.

J Inherit Metab Dis ; 35(3): 459-67, 2012 May.

Artigo em Inglês | MEDLINE | ID: mdl-22086604

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