A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres von Gang, Qiang, Bettencourt, Conceição, Holton, Janice, Lovejoy, Christopher, Chelban, Viorica, Oconnor, Emer, Yuan, Yun, Reilly, Mary M., Hanna, Michael, Houlden, Henry

Volltext

Spinocerebellar ataxia: an update von Sullivan, Roisin, Yau, Wai Yan, O’Connor, Emer, Houlden, Henry

Volltext

Trigeminal neurovascular contact in SUNCT and SUNA: a cross-sectional magnetic resonance study von Lambru, Giorgio, Rantell, Khadija, O'Connor, Emer, Levy, Andrew, Davagnanam, Indran, Zrinzo, Ludvic, Matharu, Manjit

Volltext

Prevalence of familial cluster headache: a systematic review and meta-analysis von O’Connor, Emer, Simpson, Benjamin S., Houlden, Henry, Vandrovcova, Jana, Matharu, Manjit

Volltext

The clinical characteristics of familial cluster headache von O’Connor, Emer, Nikram, Elham, Grangeon, Lou, Danno, Daisuke, Houlden, Henry, Matharu, Manjit

Volltext

GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor von Yau, Wai Yan, O'Connor, Emer, Chen, Zhongbo, Vandrovcova, Jana, Wood, Nicholas W, Houlden, Henry

Volltext

Is pituitary MRI screening necessary in cluster headache? von Grangeon, Lou, O’Connor, Emer, Danno, Daisuke, Ngoc, Thanh Mai Pham, Cheema, Sanjay, Tronvik, Erling, Davagnanam, Indran, Matharu, Manjit

Volltext

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features von Scala, Marcello, Chua, Geok Lin, Chin, Cheen Fei, Alsaif, Hessa S, Borovikov, Artem, Riazuddin, Saima, Riazuddin, Sheikh, Chiara Manzini, M, Severino, Mariasavina, Kuk, Alvin, Fan, Hao, Jamshidi, Yalda, Toosi, Mehran Beiraghi, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Dadali, Elena, Baydakova, Galina, Konovalov, Fedor, Lozier, Ekaterina, O'Connor, Emer, Sabr, Yasser, Alfaifi, Abdullah, Ashrafzadeh, Farah, Striano, Pasquale, Zara, Federico, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza, Silver, David L

Volltext

Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache von Harder, Aster V.E., Winsvold, Bendik S., Noordam, Raymond, Vijfhuizen, Lisanne S., Børte, Sigrid, Kogelman, Lisette J.A., Boer, Irene, Tronvik, Erling, Rosendaal, Frits R., Willems van Dijk, Ko, O'Connor, Emer, Fourier, Carmen, Thomas, Laurent F., Kristoffersen, Espen S., Fronczek, Rolf, Pozo‐Rosich, Patricia, Jensen, Rigmor H., Ferrari, Michel D., Hansen, Thomas F., Zwart, John‐Anker, Terwindt, Gisela M., Maagdenberg, Arn M.J.M

Volltext

R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report von Stubberud, Anker, O’Connor, Emer, Tronvik, Erling, Houlden, Henry, Matharu, Manjit

Volltext

An outbreak of acute rheumatic fever in a remote Aboriginal community von Egoroff, Natasha, Bloomfield, Hilary, Gondarra, Wanamula, Yambalpal, Brando, Guyula, Terrence, Forward, Demi, Lyons, Gemma, O’Connor, Emer, Sanderson, Lou, Dowden, Michelle, Williams, Desley, de Dassel, Jessica, Coffey, Pasqualina, Dhurrkay, Elizabeth Rrapa, Gondarra, Veronica, Holt, Deborah C., Krause, Vicki L., Currie, Bart J., Griffiths, Kalinda, Dempsey, Karen, Glynn-Robinson, Anna

Volltext

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 von Chelban, Viorica, Wiethoff, Sarah, Fabian‐Jessing, Bjørn K., Haridy, Nourelhoda A., Khan, Alaa, Efthymiou, Stephanie, Becker, Esther B. E., O'Connor, Emer, Hersheson, Joshua, Newland, Katrina, Hojland, Allan Thomas, Gregersen, Pernille A., Lindquist, Suzanne G., Petersen, Michael B., Nielsen, Jørgen E., Nielsen, Michael, Wood, Nicholas W., Giunti, Paola, Houlden, Henry

Volltext

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content von Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

Volltext

Menstrual cycle and the temporal discrimination threshold von Mc Govern, Eavan M, O'Connor, Emer, Beiser, Ines, Williams, Laura, Butler, John S, Quinlivan, Brendan, Narasimham, Shruti, Beck, Rebecca, Reilly, Richard B, O'Riordan, Sean, Hutchinson, Michael

Volltext

Analysis of the prion protein gene in multiple system atrophy von Chelban, Viorica, Manole, Andreea, Pihlstrøm, Lasse, Schottlaender, Lucia, Efthymiou, Stephanie, OConnor, Emer, Meissner, Wassilios, Holton, Janice L, Houlden, Henry

Volltext

Age, eye movement and motion discrimination von O’Connor, Emer, Margrain, Tom H., Freeman, Tom C.A.

Volltext

Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache von O'Connor, Emer, Fourier, Carmen, Ran, Caroline, Sivakumar, Prasanth, Liesecke, Franziska, Southgate, Laura, Harder, Aster V. E., Vijfhuizen, Lisanne S., Yip, Janice, Giffin, Nicola, Silver, Nicholas, Ahmed, Fayyaz, Hostettler, Isabel C., Davies, Brendan, Cader, M. Zameel, Simpson, Benjamin S., Sullivan, Roisin, Efthymiou, Stephanie, Adebimpe, Joycee, Quinn, Olivia, Campbell, Ciaran, Cavalleri, Gianpiero L., Vikelis, Michail, Kelderman, Tim, Paemeleire, Koen, Kilbride, Emer, Grangeon, Lou, Lagrata, Susie, Danno, Daisuke, Trembath, Richard, Wood, Nicholas W., Kockum, Ingrid, Winsvold, Bendik S., Steinberg, Anna, Sjöstrand, Christina, Waldenlind, Elisabet, Vandrovcova, Jana, Houlden, Henry, Matharu, Manjit, Belin, Andrea Carmine

Volltext

The genetics and pathophysiology of cluster headache and associated disorders von O'Connor, Emer

Volltext bestellen

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders von Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

Volltext

DNA repair in trinucleotide repeat ataxias von Yau, Wai Yan, O'Connor, Emer, Sullivan, Roisin, Akijian, Layan, Wood, Nicholas W.

Volltext