Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy
Friedman, Jennifer, Roze, Emmanuel, Abdenur, Jose E., Chang, Richard, Gasperini, Serena, Saletti, Veronica, Wali, Gurusidheshwar M., Eiroa, Hernan, Neville, Brian, Felice, Alex, Parascandalo, Ray, Zafeiriou, Dimitrios I., Arrabal-Fernandez, Luisa, Dill, Patricia, Eichler, Florian S., Echenne, Bernard, Gutierrez-Solana, Luis G., Hoffmann, Georg F., Hyland, Keith, Kusmierska, Katarzyna, Tijssen, Marina A. J., Lutz, Thomas, Mazzuca, Michel, Penzien, Johann, Poll-The, Bwee Tien, Sykut-Cegielska, Jolanta, Szymanska, Krystyna, Thöny, Beat, Blau, Nenad
Published in Annals of neurology (01.04.2012)
Published in Annals of neurology (01.04.2012)
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A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia
Giri, Subhajit, Naiya, Tufan, Roy, Shubhrajit, Das, Gautami, Wali, Gurusidheshwar M., Das, Shyamal Kumar, Ray, Kunal, Ray, Jharna
Published in Journal of molecular neuroscience (01.06.2019)
Published in Journal of molecular neuroscience (01.06.2019)
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Genome sequencing reanalysis increases the diagnostic yield in dystonia
Fellner, Avi, Wali, Gurusidheshwar M., Mahant, Neil, Grosz, Bianca R., Ellis, Melina, Narayanan, Ramesh K., Ng, Karl, Davis, Ryan L., Tchan, Michel C., Kotschet, Katya, Yeow, Dennis, Rudaks, Laura I., Siow, Sue-Faye, Wali, Gautam, Yiannikas, Con, Hobbs, Matthew, Copty, Joseph, Geaghan, Michael, Darveniza, Paul, Liang, Christina, Williams, Laura J., Chang, Florence C.F., Morales-Briceño, Hugo, Tisch, Stephen, Hayes, Michael, Whyte, Scott, Kummerfeld, Sarah, Kennerson, Marina L., Cowley, Mark J., Fung, Victor S.C., Sue, Carolyn M., Kumar, Kishore R.
Published in Parkinsonism & related disorders (01.07.2024)
Published in Parkinsonism & related disorders (01.07.2024)
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Genetic analysis of a family from India with Machado-Joseph disease
Anjanappa, Ram, Jain, Sanjeev, Wali, Gurusidheshwar, Purushottam, Meera
Published in Neurology India (01.03.2019)
Published in Neurology India (01.03.2019)
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Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
Spacey, Sian D., Valente, Enza-Maria, Wali, Gurusidheshwar M., Warner, Thomas T., Jarman, Paul R., Schapira, Anthony H.V., Dixon, Peter H., Davis, Mary B., Bhatia, Kailash P., Wood, Nicholas W.
Published in Movement disorders (01.07.2002)
Published in Movement disorders (01.07.2002)
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PIGG gene mutation associated with Uner Tan syndrome: A first case report
Wali, Gautam, Wali, Gurusidheshwar, Sue, Carolyn
Published in Annals of Movement Disorders (01.09.2021)
Published in Annals of Movement Disorders (01.09.2021)
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