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The effect of different interfaces during virtual game practice on motor performance of individuals with genetic ataxia: A cross-sectional study.
Published in:
PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0312705
By:
- Graciani, Zodja;
- Moraes, Íbis Ariana Peña de;
- Alberissi, Camila Aparecida de Oliveira;
- Prado-Rico, Janina Manzieri;
- Silva, Talita Dias da;
- Martinez, Juliana Perez;
- Araújo, Luciano Vieira de;
- Pontes, Rodrigo Garcia;
- Fernandes, Susi Mary de Souza;
- Barbosa, Renata Cléia Claudino;
- Németh, Andrea H.;
- Dawes, Helen;
- Monteiro, Carlos Bandeira de Mello
Publication type:
Article
Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa.
Published in:
Movement Disorders Clinical Practice, 2017, v. 4, n. 2, p. 249, doi. 10.1002/mdc3.12372
By:
- Anderson, David G.;
- Németh, Andrea H.;
- Fawcett, Katherine A.;
- Sims, David;
- Miller, Jack;
- Krause, Amanda
Publication type:
Article
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases.
Published in:
Molecular Syndromology, 2021, v. 12, n. 3, p. 186, doi. 10.1159/000513583
By:
- Jiménez de la Peña, Mar;
- Jiménez de Domingo, Ana;
- Tirado, Pilar;
- Calleja-Pérez, Beatriz;
- Alcaraz, Luis A.;
- Álvarez, Sara;
- Williams, Jonathan;
- Hagman, James R.;
- Németh, Andrea H.;
- Fernández-Jaén, Alberto
Publication type:
Article
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Published in:
2016
By:
- Panza, Emanuele;
- Escamilla-Honrubia, Juan M.;
- Marco-Marín, Clara;
- Gougeard, Nadine;
- De Michele, Giuseppe;
- Morra, Vincenzo Brescia;
- Liguori, Rocco;
- Salviati, Leonardo;
- Donati, Maria Alice;
- Cusano, Roberto;
- Pippucci, Tommaso;
- Ravazzolo, Roberto;
- Németh, Andrea H.;
- Smithson, Sarah;
- Davies, Sally;
- Hurst, Jane A.;
- Bordo, Domenico;
- Rubio, Vicente;
- Seri, Marco;
- Coutelier, Marie
Publication type:
Letter
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Published in:
Cerebellum, 2024, v. 23, n. 4, p. 1566, doi. 10.1007/s12311-023-01625-2
By:
- Ilg, Winfried;
- Milne, Sarah;
- Schmitz-Hübsch, Tanja;
- Alcock, Lisa;
- Beichert, Lukas;
- Bertini, Enrico;
- Mohamed Ibrahim, Norlinah;
- Dawes, Helen;
- Gomez, Christopher M.;
- Hanagasi, Hasmet;
- Kinnunen, Kirsi M.;
- Minnerop, Martina;
- Németh, Andrea H.;
- Newman, Jane;
- Ng, Yi Shiau;
- Rentz, Clara;
- Samanci, Bedia;
- Shah, Vrutangkumar V.;
- Summa, Susanna;
- Vasco, Gessica
Publication type:
Article
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Published in:
Cerebellum, 2024, v. 23, n. 3, p. 912, doi. 10.1007/s12311-023-01608-3
By:
- Németh, Andrea H.;
- Antoniades, Chrystalina A.;
- Dukart, Juergen;
- Minnerop, Martina;
- Rentz, Clara;
- Schuman, Bart-Jan;
- van de Warrenburg, Bart;
- Willemse, Ilse;
- Bertini, Enrico;
- Gupta, Anoopum S.;
- de Mello Monteiro, Carlos Bandeira;
- Almoajil, Hajar;
- Quinn, Lori;
- Perlman, Susan B.;
- Horak, Fay;
- Ilg, Winfried;
- Traschütz, Andreas;
- Vogel, Adam P.;
- Dawes, Helen
Publication type:
Article
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
Published in:
Cerebellum, 2024, v. 23, n. 3, p. 896, doi. 10.1007/s12311-023-01559-9
By:
- Garces, Pilar;
- Antoniades, Chrystalina A.;
- Sobanska, Anna;
- Kovacs, Norbert;
- Ying, Sarah H.;
- Gupta, Anoopum S.;
- Perlman, Susan;
- Szmulewicz, David J.;
- Pane, Chiara;
- Németh, Andrea H.;
- Jardim, Laura B.;
- Coarelli, Giulia;
- Dankova, Michaela;
- Traschütz, Andreas;
- Tarnutzer, Alexander A.
Publication type:
Article
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
Published in:
Cerebellum, 2024, v. 23, n. 2, p. 391, doi. 10.1007/s12311-023-01537-1
By:
- Beijer, Danique;
- Fogel, Brent L.;
- Beltran, Sergi;
- Danzi, Matt C.;
- Németh, Andrea H.;
- Züchner, Stephan;
- Synofzik, Matthis;
- AGI Ataxia NGS genomics, platforms Working Group;
- Adarmes, Astrid;
- Alhusaini, Saud;
- Ashrafi, Mahmoud Reza;
- Bataller, Luis;
- Bertini, Enrico;
- Boesch, Sylvia;
- Buijsen, Ronald;
- Cassou, Emanuel;
- Chan, Edwin;
- Damásio, Joana;
- Donis, Karina;
- Elert-Dobkowska, Ewelina
Publication type:
Article
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.
Published in:
Cerebellum, 2024, v. 23, n. 1, p. 121, doi. 10.1007/s12311-023-01514-8
By:
- Garces, Pilar;
- Antoniades, Chrystalina A.;
- Sobanska, Anna;
- Kovacs, Norbert;
- Ying, Sarah H.;
- Gupta, Anoopum S.;
- Perlman, Susan;
- Szmulewicz, David J.;
- Pane, Chiara;
- Németh, Andrea H.;
- Jardim, Laura B.;
- Coarelli, Giulia;
- Dankova, Michaela;
- Traschütz, Andreas;
- Tarnutzer, Alexander A.
Publication type:
Article
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Published in:
Nature Genetics, 2015, v. 47, n. 8, p. 926, doi. 10.1038/ng.3354
By:
- Abrams, Alexander J;
- Ahmed, Zubair M;
- Antonellis, Anthony;
- Zimmerman, Holly H;
- Abdul-Rahman, Omar A;
- Yang, Yaping;
- Downes, Susan M;
- Fontanesi, Flavia;
- Barrientos, Antonio;
- Németh, Andrea H;
- Hufnagel, Robert B;
- Sund, Kristen L;
- Wang, Xinjian;
- Krueger, Laura A;
- Peng, Yanyan;
- Prada, Carlos E;
- Prows, Cynthia A;
- Schorry, Elizabeth K;
- Huang, Taosheng;
- Rebelo, Adriana
Publication type:
Article
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Published in:
Nature Genetics, 2004, v. 36, n. 3, p. 225, doi. 10.1038/ng1303
By:
- Moreira, Maria-Céu;
- Klur, Sandra;
- Watanabe, Mitsunori;
- Németh, Andrea H.;
- Le Ber, Isabelle;
- Moniz, José-Carlos;
- Tranchant, Christine;
- Aubourg, Patrick;
- Tazir, Meriem;
- Schöls, Lüdger;
- Pandolfo, Massimo;
- Schulz, Jörg B.;
- Pouget, Jean;
- Calvas, Patrick;
- Shizuka-Ikeda, Masami;
- Shoji, Mikio;
- Tanaka, Makoto;
- Izatt, Louise;
- Shaw, Christopher E.;
- M'Zahem, Abderrahim
Publication type:
Article
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Published in:
Nature Genetics, 2001, v. 28, n. 2, p. 119, doi. 10.1038/88821
By:
- Rampoldi, Luca;
- Dobson-Stone, Carol;
- Rubio, Justin P.;
- Danek, Adrian;
- Chalmers, Richard M.;
- Wood, Nicholas W.;
- Verellen, Christine;
- Ferrer, Xavier;
- Malandrini, Alessandro;
- Fabrizi, Gian M.;
- Brown, Robert;
- Vance, Jeffery;
- Pericak-Vance, Margaret;
- Rudolf, Gabrielle;
- Carrè, Sophie;
- Alonso, Elisa;
- Manfredi, Michela;
- Németh, Andrea H.;
- Monaco, Anthony P.
Publication type:
Article
Infantile neuroaxonal dystrophy caused by uniparental disomy.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 4, p. 386, doi. 10.1111/dmcn.12327
By:
- Solomons, Joyce;
- Ridgway, Oliver;
- Hardy, Carol;
- Kurian, Manju;
- Jayawant, Sandeep;
- Hughes, Sarah;
- Pretorius, Pieter;
- Németh, Andrea H
Publication type:
Article
Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised α-fetoprotein.
Published in:
Journal of Neurology, 2004, v. 251, n. 7, p. 805, doi. 10.1007/s00415-004-0427-y
By:
- Izatt, Louise;
- Németh, Andrea H.;
- Meesaq, Anjela;
- Mills, Kerry R.;
- Taylor, A. Malcolm R.;
- Shaw, Christopher E.
Publication type:
Article
Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation.
Published in:
Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0600-7
By:
- Wong, Maggie M. K.;
- Hoekstra, Stephanie D.;
- Vowles, Jane;
- Watson, Lauren M.;
- Fuller, Geraint;
- Németh, Andrea H.;
- Cowley, Sally A.;
- Ansorge, Olaf;
- Talbot, Kevin;
- Becker, Esther B. E.
Publication type:
Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.91
By:
- Shanks, Morag E;
- Downes, Susan M;
- Copley, Richard R;
- Lise, Stefano;
- Broxholme, John;
- Hudspith, Karl A Z;
- Kwasniewska, Alexandra;
- Davies, Wayne I L;
- Hankins, Mark W;
- Packham, Emily R;
- Clouston, Penny;
- Seller, Anneke;
- Wilkie, Andrew O M;
- Taylor, Jenny C;
- Ragoussis, Jiannis;
- Németh, Andrea H
Publication type:
Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 3, p. 274, doi. 10.1038/ejhg.2012.172
By:
- Shanks, Morag E;
- Downes, Susan M;
- Copley, Richard R;
- Lise, Stefano;
- Broxholme, John;
- Hudspith, Karl AZ;
- Kwasniewska, Alexandra;
- Davies, Wayne IL;
- Hankins, Mark W;
- Packham, Emily R;
- Clouston, Penny;
- Seller, Anneke;
- Wilkie, Andrew OM;
- Taylor, Jenny C;
- Ragoussis, Jiannis;
- Németh, Andrea H
Publication type:
Article
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Published in:
2020
By:
- Shah, Mital;
- Broadgate, Suzanne;
- Shanks, Morag;
- Clouston, Penny;
- Yu, Jing;
- MacLaren, Robert E.;
- Németh, Andrea H.;
- Halford, Stephanie;
- Downes, Susan M.
Publication type:
journal article
The synthesis of minds and molecules leads to potential therapy for pantothenate kinase-associated neurodegeneration.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 8, doi. 10.1093/brain/awt351
By:
- Németh, Andrea H.
Publication type:
Article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3106, doi. 10.1093/brain/awt236
By:
- Németh, Andrea H.;
- Kwasniewska, Alexandra C.;
- Lise, Stefano;
- Parolin Schnekenberg, Ricardo;
- Becker, Esther B. E.;
- Bera, Katarzyna D.;
- Shanks, Morag E.;
- Gregory, Lorna;
- Buck, David;
- Zameel Cader, M.;
- Talbot, Kevin;
- de Silva, Rajith;
- Fletcher, Nicholas;
- Hastings, Rob;
- Jayawant, Sandeep;
- Morrison, Patrick J.;
- Worth, Paul;
- Taylor, Malcolm;
- Tolmie, John;
- O’Regan, Mary
Publication type:
Article
The genetics of primary dystonias and related disorders.
Published in:
Brain: A Journal of Neurology, 2002, v. 125, n. 4, p. 695, doi. 10.1093/brain/awf090
By:
- Németh, Andrea H.
Publication type:
Article
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
Published in:
Annals of Neurology, 2021, v. 89, n. 1, p. 195, doi. 10.1002/ana.25945
By:
- Kim, Christine Y.;
- Wirth, Thomas;
- Hubsch, Cécile;
- Németh, Andrea H.;
- Okur, Volkan;
- Anheim, Mathieu;
- Drouot, Nathalie;
- Tranchant, Christine;
- Rudolf, Gabrielle;
- Chelly, Jamel;
- Tatton‐Brown, Katrina;
- Blauwendraat, Cornelis;
- Vonsattel, Jean Paul G.;
- Cortes, Etty;
- Alcalay, Roy N.;
- Chung, Wendy K.
Publication type:
Article
Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Published in:
Annals of Neurology, 2020, v. 88, n. 5, p. 1028, doi. 10.1002/ana.25863
By:
- Kim, Christine Y.;
- Wirth, Thomas;
- Hubsch, Cécile;
- Németh, Andrea H.;
- Okur, Volkan;
- Anheim, Mathieu;
- Drouot, Nathalie;
- Tranchant, Christine;
- Rudolf, Gabrielle;
- Chelly, Jamel;
- Tatton‐Brown, Katrina;
- Blauwendraat, Cornelis;
- Vonsattel, Jean Paul G.;
- Cortes, Etty;
- Alcalay, Roy N.;
- Chung, Wendy K.
Publication type:
Article
A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 25, p. 5173, doi. 10.1093/hmg/ddt370
By:
- Lufino, Michele M.P.;
- Silva, Ana M.;
- Németh, Andrea H.;
- Alegre-Abarrategui, Javier;
- Russell, Angela J.;
- Wade-Martins, Richard
Publication type:
Article
Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.
Published in:
Movement Disorders, 2023, v. 38, n. 6, p. 959, doi. 10.1002/mds.29277
By:
- Thomas‐Black, Gilbert;
- Altmann, Daniel R.;
- Crook, Harry;
- Solanky, Nita;
- Carrasco, Ferran Prados;
- Battiston, Marco;
- Grussu, Francesco;
- Yiannakas, Marios C.;
- Kanber, Baris;
- Jolly, Jasleen K.;
- Brett, Jon;
- Downes, Susan M.;
- Moran, Marni;
- Chan, Ping K.;
- Adewunmi, Emmanuel;
- Gandini Wheeler‐Kingshott, Claudia A.M.;
- Németh, Andrea H.;
- Festenstein, Richard;
- Bremner, Fion;
- Giunti, Paola
Publication type:
Article
A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.
Published in:
1999
By:
- Dunne, Eimear;
- Hyman, Nigel M.;
- Huson, Susan M.;
- Németh, Andrea H.;
- Dunne, E;
- Hyman, N M;
- Huson, S M;
- Németh, A H
Publication type:
journal article
Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature.
Published in:
1999
By:
- Németh, Andrea H.;
- Mills, Kerry R.;
- Elston, John S.;
- Williams, Adrian;
- Dunne, Eimear;
- Hyman, Nigel M.;
- Németh, A H;
- Mills, K R;
- Elston, J S;
- Williams, A;
- Dunne, E;
- Hyman, N M
Publication type:
journal article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
By:
- Taylor, John;
- Craft, Jude;
- Blair, Edward;
- Wordsworth, Sarah;
- Beeson, David;
- Chandratre, Saleel;
- Cossins, Judith;
- Lester, Tracy;
- Németh, Andrea H.;
- Ormondroyd, Elizabeth;
- Patel, Smita Y.;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.;
- Thomson, Kate L.;
- Watkins, Hugh;
- Wilkie, Andrew O. M.;
- Knight, Julian C.
Publication type:
Article
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
Published in:
2021
By:
- Al-Khuzaei, Saoud;
- Hudspith, Karl A. Z.;
- Broadgate, Suzanne;
- Shanks, Morag E.;
- Clouston, Penny;
- Németh, Andrea H.;
- Halford, Stephanie;
- Downes, Susan M.
Publication type:
journal article

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