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Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Published in:
2022
By:
- Vivekanandam, Vinojini;
- Männikkö, Roope;
- Skorupinska, Iwona;
- Germain, Louise;
- Gray, Belinda;
- Wedderburn, Sarah;
- Kozyra, Damian;
- Sud, Richa;
- James, Natalie;
- Holmes, Sarah;
- Savvatis, Konstantinos;
- Fialho, Doreen;
- Merve, Ashirwad;
- Pattni, Jatin;
- Farrugia, Maria;
- Behr, Elijah R;
- Marini-Bettolo, Chiara;
- Hanna, Michael G;
- Matthews, Emma
Publication type:
journal article
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Published in:
2022
By:
- Suetterlin, Karen;
- Matthews, Emma;
- Sud, Richa;
- McCall, Samuel;
- Fialho, Doreen;
- Burge, James;
- Jayaseelan, Dipa;
- Haworth, Andrea;
- Sweeney, Mary G;
- Kullmann, Dimitri M;
- Schorge, Stephanie;
- Hanna, Michael G;
- Männikkö, Roope
Publication type:
journal article
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Published in:
2018
By:
- Castañeda, Marisol Sampedro;
- Zanoteli, Edmar;
- Scalco, Renata S;
- Scaramuzzi, Vinicius;
- Caldas, Vitor Marques;
- Reed, Umbertina Conti;
- Silva, Andre Macedo Serafim da;
- O'Callaghan, Benjamin;
- Phadke, Rahul;
- Bugiardini, Enrico;
- Sampedro Castañeda, Marisol;
- Marques Caldas, Vitor;
- Conti Reed, Umbertina;
- da Silva, Andre Macedo Serafim;
- Sud, Richa;
- McCall, Samuel;
- Hanna, Michael G;
- Poulsen, Hanne;
- Männikkö, Roope;
- Matthews, Emma
Publication type:
journal article
Sodium and chloride channelopathies with myositis: Coincidence or connection?
Published in:
Muscle & Nerve, 2011, v. 44, n. 2, p. 283, doi. 10.1002/mus.22120
By:
- Matthews, Emma;
- Miller, James A.L.;
- MacLeod, Malcolm R.;
- Ironside, James;
- Ambler, Gareth;
- Labrum, Robin;
- Sud, Richa;
- Holton, Janice L.;
- Hanna, Michael G.
Publication type:
Article
Refined exercise testing can aid dna-based diagnosis in muscle channelopathies.
Published in:
Annals of Neurology, 2011, v. 69, n. 2, p. 328, doi. 10.1002/ana.22238
By:
- Tan, S. Veronica;
- Matthews, Emma;
- Barber, Melissa;
- Burge, James A.;
- Rajakulendran, Sanjeev;
- Fialho, Doreen;
- Sud, Richa;
- Haworth, Andrea;
- Koltzenburg, Martin;
- Hanna, Michael G.
Publication type:
Article

Found: 5

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Sodium and chloride channelopathies with myositis: Coincidence or connection?

Refined exercise testing can aid dna-based diagnosis in muscle channelopathies.