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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia.
Published in:
Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 582, doi. 10.1002/mdc3.14023
By:
- El‐Wahsh, Shadi;
- Fellner, Avi;
- Hobbs, Matthew;
- Copty, Joe;
- Deveson, Ira;
- Stevanovski, Igor;
- Stoll, Marion;
- Zhu, Danqing;
- Narayanan, Ramesh K.;
- Grosz, Bianca;
- Worgan, Lisa;
- Cheong, Pak Leng;
- Yeow, Dennis;
- Rudaks, Laura;
- Hasan, Md Mehedi;
- Hayes, Vanessa M.;
- Kennerson, Marina;
- Kumar, Kishore R.;
- Hayes, Michael
Publication type:
Article
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Published in:
2020
By:
- Kumar, Kishore R;
- Cortese, Andrea;
- Tomlinson, Susan E;
- Efthymiou, Stephanie;
- Ellis, Melina;
- Zhu, Danqing;
- Stoll, Marion;
- Dominik, Natalia;
- Tisch, Stephen;
- Tchan, Michel;
- Wu, Kathy H C;
- Devery, Sophie;
- Spring, Penelope J;
- Hawke, Simon;
- Cremer, Phillip;
- Ng, Karl;
- Reilly, Mary M;
- Nicholson, Garth A;
- Houlden, Henry;
- Kennerson, Marina
Publication type:
Letter
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Published in:
2015
By:
- Coutelier, Marie;
- Goizet, Cyril;
- Durr, Alexandra;
- Habarou, Florence;
- Morais, Sara;
- Dionne-Laporte, Alexandre;
- Feifei Tao;
- Konop, Juliette;
- Stoll, Marion;
- Charles, Perrine;
- Jacoupy, Maxime;
- Matusiak, Raphael;
- Alonso, Isabel;
- Tallaksen, Chantal;
- Mairey, Mathilde;
- Kennerson, Marina;
- Gaussen, Marion;
- Schule, Rebecca;
- Janin, Maxime;
- Morice-Picard, Fanny
Publication type:
journal article
Re-evaluation of phytohormone-independent division of tobacco protoplast-derived cells.
Published in:
Plant Journal, 1999, v. 17, n. 5, p. 461, doi. 10.1046/j.1365-313X.1999.00404.x
By:
- Schell, Jeff;
- Bisseling, Ton;
- Dülz, Marion;
- Franssen, Henk;
- Fritze, Klaus;
- John, Michael;
- Kleinow, Tatjana;
- Leßnick, Angela;
- Miklashevichs, Edvins;
- Pawlowski, Katharina;
- Röhrig, Horst;
- de Sande, Karin van;
- Schmidt, Jürgen;
- Steinbiß, Hans-Henning;
- Stoll, Marion
Publication type:
Article
Very late‐onset limb‐girdle congenital myasthenic syndrome due to GFPT1 mutation.
Published in:
Muscle & Nerve, 2023, v. 68, n. 3, p. E32, doi. 10.1002/mus.27842
By:
- El‐Wahsh, Shadi;
- Wijesinghe, Rajiv;
- Qiu, Jessica;
- Heard, Rob;
- Stoll, Marion;
- Reddel, Stephen
Publication type:
Article
Bone health in facioscapulohumeral muscular dystrophy: A cross-sectional study.
Published in:
2017
By:
- Chagarlamudi, Hema;
- Corbett, Alastair;
- Stoll, Marion;
- Bibat, Genila;
- Grosmann, Carla;
- Matichak Stock, Carly;
- Stinson, Nikia;
- Shapiro, Jay;
- Wagner, Kathryn R.
Publication type:
journal article
Spatial heterogeneity of myocardial perfusion predicts local potassium channel expression and action potential duration.
Published in:
Cardiovascular Research, 2008, v. 77, n. 3, p. 489, doi. 10.1093/cvr/cvm060
By:
- Stoll, Marion;
- Quentin, Michael;
- Molojavyi, Andrej;
- Thämer, Volker;
- Decking, Ulrich K. M.
Publication type:
Article
Hereditary Spastic Paraplegia Type 43 ( SPG43) is Caused by Mutation in C19orf12.
Published in:
Human Mutation, 2013, v. 34, n. 10, p. 1357, doi. 10.1002/humu.22378
By:
- Landouré, Guida;
- Zhu, Peng‐Peng;
- Lourenço, Charles M.;
- Johnson, Janel O.;
- Toro, Camilo;
- Bricceno, Katherine V.;
- Rinaldi, Carlo;
- Meilleur, Katherine G.;
- Sangaré, Modibo;
- Diallo, Oumarou;
- Pierson, Tyler M.;
- Ishiura, Hiroyuki;
- Tsuji, Shoji;
- Hein, Nichole;
- Fink, John K.;
- Stoll, Marion;
- Nicholson, Garth;
- Gonzalez, Michael A.;
- Speziani, Fiorella;
- Dürr, Alexandra
Publication type:
Article

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