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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 4880, doi. 10.1093/brain/awad328
By:
- Lischka, Annette;
- Eggermann, Katja;
- Record, Christopher J;
- Dohrn, Maike F;
- Laššuthová, Petra;
- Kraft, Florian;
- Begemann, Matthias;
- Dey, Daniela;
- Eggermann, Thomas;
- Beijer, Danique;
- Šoukalová, Jana;
- Laura, Matilde;
- Rossor, Alexander M;
- Mazanec, Radim;
- Lent, Jonas Van;
- Tomaselli, Pedro J;
- Ungelenk, Martin;
- Debus, Karlien Y;
- Feely, Shawna M E;
- Gläser, Dieter
Publication type:
Article
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4191, doi. 10.1093/brain/awad158
By:
- Rebelo, Adriana P;
- Tomaselli, Pedro J;
- Medina, Jessica;
- Wang, Ying;
- Dohrn, Maike F;
- Nyvltova, Eva;
- Danzi, Matt C;
- Garrett, Mark;
- Smith, Sean E;
- Pestronk, Alan;
- Li, Chengcheng;
- Ruiz, Ariel;
- Jacobs, Elizabeth;
- Feely, Shawna M E;
- França, Marcondes C;
- Gomes, Marcus V;
- Santos, Diogo F;
- Kumar, Surinder;
- Lombard, David B;
- Saporta, Mario
Publication type:
Article
Primary neural leprosy: clinical, neurophysiological and pathological presentation and progression.
Published in:
2022
By:
- Tomaselli, Pedro J;
- Santos, Diogo F dos;
- Santos, André C J dos;
- Antunes, Douglas E;
- Marques, Vanessa D;
- Foss, Norma T;
- Moreira, Carolina L;
- Nogueira, Patrícia T B;
- Nascimento, Osvaldo J M;
- Neder, Luciano;
- Barreira, Amilton A;
- Frade, Marco A;
- Goulart, Isabela M B;
- Marques, Wilson;
- Dos Santos, Diogo F;
- Dos Santos, André C J
Publication type:
journal article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Published in:
2020
By:
- Cortese, Andrea;
- Tozza, Stefano;
- Yau, Wai Yan;
- Rossi, Salvatore;
- Beecroft, Sarah J;
- Jaunmuktane, Zane;
- Dyer, Zoe;
- Ravenscroft, Gianina;
- Lamont, Phillipa J;
- Mossman, Stuart;
- Chancellor, Andrew;
- Maisonobe, Thierry;
- Pereon, Yann;
- Cauquil, Cecile;
- Colnaghi, Silvia;
- Mallucci, Giulia;
- Curro, Riccardo;
- Tomaselli, Pedro J;
- Thomas-Black, Gilbert;
- Sullivan, Roisin
Publication type:
journal article
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 13, doi. 10.1111/cge.14533
By:
- Giardina, Emiliano;
- Camaño, Pilar;
- Burton‐Jones, Sarah;
- Ravenscroft, Gina;
- Henning, Franclo;
- Magdinier, Frederique;
- van der Stoep, Nienke;
- van der Vliet, Patrick J.;
- Bernard, Rafaëlle;
- Tomaselli, Pedro J.;
- Davis, Mark R.;
- Nishino, Ichizo;
- Oflazer, Piraye;
- Race, Valerie;
- Vishnu, Venugopalan Y.;
- Williams, Victoria;
- Sobreira, Cláudia F. R.;
- van der Maarel, Silvere M.;
- Moore, Steve A.;
- Voermans, Nicol C.
Publication type:
Article
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.
Published in:
Movement Disorders, 2022, v. 37, n. 8, p. 1773, doi. 10.1002/mds.29046
By:
- Gama, Maria Thereza D.;
- Braga‐Neto, Pedro;
- Rangel, Deborah M.;
- Godeiro, Clécio;
- Alencar, Rodrigo;
- Embiruçu, Emília K.;
- Cornejo‐Olivas, Mario;
- Sarapura‐Castro, Elison;
- Saffie Awad, Paula;
- Muñoz Chesta, Daniela;
- Kauffman, Marcelo;
- Rodriguez‐Quiroga, Sergio;
- Jardim, Laura B.;
- da Graça, Felipe F.;
- França, Marcondes C.;
- Tomaselli, Pedro J.;
- Marques, Wilson;
- Teive, Helio A.G.;
- Barsottini, Orlando G.P.;
- Pedroso, José Luiz
Publication type:
Article
High glucose level as a modifier factor in CMT1A patients.
Published in:
Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 132, doi. 10.1111/jns.12379
By:
- Secchin, Juliana B.;
- Leal, Rita C. C.;
- Lourenço, Charles M.;
- Marques, V. D.;
- Nogueira, Patricia T. L.;
- Santos, Andre C. J.;
- Tomaselli, Pedro J.;
- Marques, Wilson
Publication type:
Article
New novel mutations in Brazilian families with X‐linked Charcot‐Marie‐Tooth disease.
Published in:
Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 207, doi. 10.1111/jns.12327
By:
- Gouvea, Silmara P.;
- Perina, Keity C. B.;
- Nyshyama, Fulviana S.;
- Lourenço, Charles M.;
- Marques, Wilson;
- Tomaselli, Pedro J.;
- Barretto, Luiza S.;
- Nicolau, Nilson
Publication type:
Article
The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population.
Published in:
Journal of the Peripheral Nervous System, 2018, v. 23, n. 2, p. 134, doi. 10.1111/jns.12259
By:
- Lavigne‐Moreira, Carolina;
- Marques, Vanessa D.;
- Gonçalves, Marcus V. M.;
- de Oliveira, Mauricio F.;
- Tomaselli, Pedro J.;
- Nunez, José C.;
- do Nascimento, Osvaldo J. M.;
- Barreira, Amilton A.;
- Marques Jr, Wilson
Publication type:
Article
Severe cognitive impairment in a patient with CMT2A.
Published in:
2018
By:
- Tomaselli, Pedro J.;
- Kapoor, Mahima;
- Cortese, Andrea;
- Polke, James M.;
- Rossor, Alexander M.;
- Reilly, Mary M.
Publication type:
Letter to the Editor
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
Published in:
Journal of the Peripheral Nervous System, 2017, v. 22, n. 4, p. 460, doi. 10.1111/jns.12235
By:
- Tomaselli, Pedro J.;
- Rossor, Alexander M.;
- Horga, Alejandro;
- Laura, Matilde;
- Blake, Julian C.;
- Houlden, Henry;
- Reilly, Mary M.
Publication type:
Article
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
Published in:
Journal of the Peripheral Nervous System, 2016, v. 21, n. 1, p. 52, doi. 10.1111/jns.12155
By:
- Tomaselli, Pedro J.;
- Rossor, Alexander M.;
- Polke, James M.;
- Poh, Roy;
- Blake, Julian;
- Reilly, Mary M.
Publication type:
Article

Found: 12