Søgeresultater - O’Connor, Emer

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

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

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

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

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

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

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New insights in post-traumatic headache with cluster headache phenotype: a cohort study af Grangeon, Lou, O'Connor, Emer, Chan, Chun-Kong, Akijian, Layan, Pham Ngoc, Thanh Mai, Matharu, Manjit Singh

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Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset af Wiethoff, Sarah, O’Connor, Emer, Haridy, Nourelhoda A, Nethisinghe, Suran, Wood, Nicholas, Giunti, Paola, Bettencourt, Conceição, Houlden, Henry

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

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RFC1-related ataxia is a mimic of early multiple system atrophy af Sullivan, Roisin, Yau, Wai Yan, Chelban, Viorica, Rossi, Salvatore, Dominik, Natalia, O'Connor, Emer, Hardy, John, Wood, Nicholas, Cortese, Andrea, Houlden, Henry

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ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms af Hostettler, Isabel C., O'Callaghan, Benjamin, Bugiardini, Enrico, O'Connor, Emer, Vandrovcova, Jana, Davagnanam, Indran, Alg, Varinder, Bonner, Stephen, Walsh, Daniel, Bulters, Diederik, Kitchen, Neil, Brown, Martin M., Grieve, Joan, Werring, David J., Houlden, Henry

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Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy af O’Connor, Emer, Vandrovcova, Jana, Bugiardini, Enrico, Chelban, Viorica, Manole, Andreea, Davagnanam, Indran, Wiethoff, Sarah, Pittman, Alan, Lynch, David S, Efthymiou, Stephanie, Marino, Silvia, Manzur, Adnan Y, Roberts, Mark, Hanna, Michael G, Houlden, Henry, Matthews, Emma, Wood, Nicholas W

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Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 af 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

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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features af 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.

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Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache af Harder, Aster V.E., Winsvold, Bendik S., Noordam, Raymond, Vijfhuizen, Lisanne S., Børte, Sigrid, Kogelman, Lisette J.A., de 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., van den Maagdenberg, Arn M.J.M

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Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content af 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

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects af Manole, Andreea, Efthymiou, Stephanie, O’Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean-Louis, Koolen, David A., Houlden, Henry

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