Search Results - "Khan, Alaa"

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

“…ABSTRACT Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene…”
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Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre by Bugiardini, Enrico, Khan, Alaa M., Phadke, Rahul, Lynch, David S., Cortese, Andrea, Feng, Lucy, Gang, Qiang, Pittman, Alan M., Morrow, Jasper M., Turner, Chris, Carr, Aisling S., Quinlivan, Ros, Rossor, Alexander M., Holton, Janice L., Parton, Matt, Blake, Julian C., Reilly, Mary M., Houlden, Henry, Matthews, Emma, Hanna, Michael G.

“…•Broad NGS screening is effective when combined with a multi-disciplinary assessment.•Early onset, abnormal MRI and/or EMG are associated with a genetic…”
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SORL1 mutation in a Greek family with Parkinson's disease and dementia by Xiromerisiou, Georgia, Bourinaris, Thomas, Houlden, Henry, Lewis, Patrick A., Senkevich, Konstantin, Hammer, Monia, Federoff, Monica, Khan, Alaa, Spanaki, Cleanthe, Hadjigeorgiou, Georgios M., Bonstanjopoulou, Sevasti, Fidani, Liana, Ermolaev, Aleksey, Gan‐Or, Ziv, Singleton, Andrew, Vandrovcova, Jana, Hardy, John

“…Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from…”
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Inclusion body myositis: from genetics to clinical trials by Nagy, Sara, Khan, Alaa, Machado, Pedro M., Houlden, Henry

“…Inclusion body myositis (IBM) belongs to the group of idiopathic inflammatory myopathies and is characterized by a slowly progressive disease course with…”
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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes by Cortese, Andrea, Zhu, Yi, Rebelo, Adriana P., Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J., Bai, Yunhong, Bis-Brewer, Dana M., Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C., Feely, Shawna M. E., Athanasiou-Fragkouli, Alkyoni, Haridy, Nourelhoda A., Isasi, Rosario, Khan, Alaa, Laurà, Matilde, Magri, Stefania, Pipis, Menelaos, Pisciotta, Chiara, Powell, Eric, Rossor, Alexander M., Saveri, Paola, Sowden, Janet E., Tozza, Stefano, Vandrovcova, Jana, Dallman, Julia, Grignani, Elena, Marchioni, Enrico, Scherer, Steven S., Tang, Beisha, Lin, Zhiqiang, Al-Ajmi, Abdullah, Schüle, Rebecca, Synofzik, Matthis, Maisonobe, Thierry, Stojkovic, Tanya, Auer-Grumbach, Michaela, Abdelhamed, Mohamed A., Hamed, Sherifa A., Zhang, Ruxu, Manganelli, Fiore, Santoro, Lucio, Taroni, Franco, Pareyson, Davide, Houlden, Henry, Herrmann, David N., Reilly, Mary M., Shy, Michael E., Zhai, R. Grace, Zuchner, Stephan

“…Here we report biallelic mutations in the sorbitol dehydrogenase gene ( SORD ) as the most frequent recessive form of hereditary neuropathy. We identified 45…”
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Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes by Cortese, Andrea, Zhu, Yi, Rebelo, Adriana P., Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J., Bai, Yunhong, Bis-Brewer, Dana M., Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C., Feely, Shawna M. E., Athanasiou-Fragkouli, Alkyoni, Haridy, Nourelhoda A., Isasi, Rosario, Khan, Alaa, Laurà, Matilde, Magri, Stefania, Pipis, Menelaos, Pisciotta, Chiara, Powell, Eric, Rossor, Alexander M., Saveri, Paola, Sowden, Janet E., Tozza, Stefano, Vandrovcova, Jana, Dallman, Julia, Grignani, Elena, Marchioni, Enrico, Scherer, Steven S., Tang, Beisha, Lin, Zhiqiang, Al-Ajmi, Abdullah, Schüle, Rebecca, Synofzik, Matthis, Maisonobe, Thierry, Stojkovic, Tanya, Auer-Grumbach, Michaela, Abdelhamed, Mohamed A., Hamed, Sherifa A., Zhang, Ruxu, Manganelli, Fiore, Santoro, Lucio, Taroni, Franco, Pareyson, Davide, Houlden, Henry, Herrmann, David N., Reilly, Mary M., Shy, Michael E., Zhai, R. Grace, Zuchner, Stephan

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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