Works by Nemeth, Andrea H

Results: 38

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2812, doi. 10.1093/brain/awaf111

By:

Hengel, Holger;
Hannan, Shabab B;
Reich, Selina;
Beijer, Danique;
Roller, Johanna;
Gilsbach, Bernd K;
Gloeckner, Christian Johannes;
Greene, Daniel;
Timmann, Dagmar;
Depienne, Christel;
Mumford, Andrew;
O'Driscoll, Mary;
Nemeth, Andrea H;
Lundberg, Julie;
Rodan, Lance H;
Bruel, Ange-Line;
Delanne, Julian;
Deconinck, Tine;
Baets, Jonathan;
Gan-Or, Ziv

Publication type:

Article

Coats-Type Retinal Telangiectasia in Case of Kabuki Make-Up Syndrome (Niikawa-Kuroki Syndrome).

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 4, p. 181, doi. 10.1080/13816810500374433

By:

Anandan, M.;
Porter, Neroli J.;
Nemeth, Andrea H.;
Blair, Edward;
Downes, Susan M.

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

Subthalamic nucleus shows opposite functional connectivity pattern in Huntington's and Parkinson's disease.

Published in:

Brain Communications, 2023, v. 5, n. 6, p. 1, doi. 10.1093/braincomms/fcad282

By:

Evangelisti, Stefania;
Boessenkool, Sirius;
Pflanz, Chris Patrick;
Basting, Romina;
Betts, Jill F.;
Jenkinson, Mark;
Clare, Stuart;
Muhammed, Kinan;
LeHeron, Campbell;
Armstrong, Richard;
Klein, Johannes C.;
Husain, Masud;
Nemeth, Andrea H.;
Hu, Michele T.;
Douaud, Gwenaëlle

Publication type:

Article

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.

Published in:

Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab245

By:

Bott, Laura C.;
Forouhan, Mitra;
Lieto, Maria;
Sala, Ambre J.;
Ellerington, Ruth;
Johnson, Janel O.;
Speciale, Alfina A.;
Criscuolo, Chiara;
Filla, Alessandro;
Chitayat, David;
Alkhunaizi, Ebba;
Shannon, Patrick;
Nemeth, Andrea H.;
Angelucci, Francesco;
Wooi Fang Lim;
Striano, Pasquale;
Zara, Federico;
Helbig, Ingo;
Muona, Mikko;
Courage, Carolina

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

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

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

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

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

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

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

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

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.

Published in:

2022

By:

Patel, Chetan Khantibai;
Broadgate, Suzanne;
Shalaby, Ahmed;
Yu, Jing;
Nemeth, Andrea H.;
Downes, Susan M;
Halford, Stephanie

Publication type:

Report

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Published in:

2020

By:

Shah, Mital;
Shanks, Morag;
Packham, Emily;
Williams, Jonathan;
Haysmoore, Jesse;
MacLaren, Robert E.;
Németh, Andrea H.;
Clouston, Penny;
Downes, Susan M.

Publication type:

Report

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

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

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

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

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

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

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

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22627-w

By:

Kour, Sukhleen;
Rajan, Deepa S.;
Fortuna, Tyler R.;
Anderson, Eric N.;
Ward, Caroline;
Lee, Youngha;
Lee, Sangmoon;
Shin, Yong Beom;
Chae, Jong-Hee;
Choi, Murim;
Siquier, Karine;
Cantagrel, Vincent;
Amiel, Jeanne;
Stolerman, Elliot S.;
Barnett, Sarah S.;
Cousin, Margot A.;
Castro, Diana;
McDonald, Kimberly;
Kirmse, Brian;
Nemeth, Andrea H.

Publication type:

Article

Task-Specific Training in Huntington Disease: A Randomized Controlled Feasibility Trial.

Published in:

Physical Therapy, 2014, v. 94, n. 11, p. 1555, doi. 10.2522/ptj.20140123

By:

Quinn, Lori;
Debono, Katy;
Dawes, Helen;
Rosser, Anne Elizabeth;
Nemeth, Andrea H.;
Rickards, Hugh;
Tabrizi, Sarah J.;
Quarrell, Oliver;
Trender-Gerhard, Iris;
Kelson, Mark J.;
Townson, Julia;
Busse, Monica

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

Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder.

Published in:

Movement Disorders, 2023, v. 38, n. 2, p. 347, doi. 10.1002/mds.29280

By:

Magrinelli, Francesca;
Rocca, Clarissa;
Simone, Roberto;
Zenezini Chiozzi, Riccardo;
Jaunmuktane, Zane;
Mencacci, Niccolò E.;
Tinazzi, Michele;
Jayawant, Sandeep;
Nemeth, Andrea H.;
Demidov, German;
Houlden, Henry;
Bhatia, Kailash P.

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

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