Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

por Chelban, Viorica, Tucci, Arianna, Lynch, David S, Polke, James M, Santos, Liana, Jonvik, Hallgeir, Groppa, Stanislav, Wood, Nicholas W, Houlden, Henry
Publicado 2017

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

por Rossor, Alexander M., Morrow, Jasper M., Polke, James M., Murphy, Sinead M., Houlden, Henry, Laura, Matilde, Manji, Hadi, Blake, Julian, Reilly, Mary M.
Publicado 2017

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

por Nethisinghe, Suran, Kesavan, Maheswaran, Ging, Heather, Labrum, Robyn, Polke, James M., Islam, Saiful, Garcia-Moreno, Hector, Callaghan, Martina F., Cavalcanti, Francesca, Pook, Mark A., Giunti, Paola
Publicado 2021

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

por Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, van Belzen, Martine J., van der Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.
Publicado 2016

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

por Cortese, Andrea, Wilcox, Janel E., Polke, James M., Poh, Roy, Skorupinska, Mariola, Rossor, Alexander M., Laura, Matilde, Tomaselli, Pedro J., Houlden, Henry, Shy, Michael E., Reilly, Mary M.
Publicado 2020

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

por Pipis, Menelaos, Won, Seongsik, Poh, Roy, Efthymiou, Stephanie, Polke, James M, Skorupinska, Mariola, Blake, Julian, Rossor, Alexander M, Moran, John J, Munot, Pinki, Muntoni, Francesco, Laura, Matilde, Svaren, John, Reilly, Mary M
Publicado 2023

Plasma GFAP in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study

por O'Connor, Antoinette, Abel, Emily, Benedet, Andrea Lessa, Poole, Teresa, Ashton, Nicholas, Weston, Philip Simon John, Heslegrave, Amanda J, Ryan, Natalie, Barker, Suzie, Polke, James M, Blennow, Kaj, Zetterberg, Henrik, Fox, Nick C
Publicado 2023

Elevated 4R‐tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation

por Setó‐Salvia, Núria, Esteras, Noemi, de Silva, Rohan, de Pablo‐Fernandez, Eduardo, Arber, Charles, Toomey, Christina E., Polke, James M., Morris, Huw R., Rohrer, Jonathan D., Abramov, Andrey Y., Patani, Rickie, Wray, Selina, Warner, Thomas T.
Publicado 2021

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

por Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Publicado 2013

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

por Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Publicado 2013

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism()

por Schottlaender, Lucia V., Polke, James M., Ling, Helen, MacDoanld, Nicola D., Tucci, Arianna, Nanji, Tina, Pittman, Alan, de Silva, Rohan, Holton, Janice L., Revesz, Tamas, Sweeney, Mary G., Singleton, Andy B., Lees, Andrew J., Bhatia, Kailash P., Houlden, Henry
Publicado 2015

Erratum to “The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism” [Neurobiol. Aging 36 (2015) 122...

por Schottlaender, Lucia V., Polke, James M., Ling, Helen, MacDoanld, Nicola D., Tucci, Arianna, Nanji, Tina, Pittman, Alan, de Silva, Rohan, Holton, Janice L., Revesz, Tamas, Sweeney, Mary G., Singleton, Andy B., Lees, Andrew J., Bhatia, Kailash P., Houlden, Henry
Publicado 2015

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

por Saveri, Paola, De Luca, Maria, Nisi, Veronica, Pisciotta, Chiara, Romano, Roberta, Piscosquito, Giuseppe, Reilly, Mary M., Polke, James M., Cavallaro, Tiziana, Fabrizi, Gian Maria, Fossa, Paola, Cichero, Elena, Lombardi, Raffaella, Lauria, Giuseppe, Magri, Stefania, Taroni, Franco, Pareyson, Davide, Bucci, Cecilia
Publicado 2020

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

por Fratta, Pietro, Poulter, Mark, Lashley, Tammaryn, Rohrer, Jonathan D., Polke, James M., Beck, Jon, Ryan, Natalie, Hensman, Davina, Mizielinska, Sarah, Waite, Adrian J., Lai, Mang-Ching, Gendron, Tania F., Petrucelli, Leonard, Fisher, Elizabeth M. C., Revesz, Tamas, Warren, Jason D., Collinge, John, Isaacs, Adrian M., Mead, Simon
Publicado 2013

Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy

por Horga, Alejandro, Bugiardini, Enrico, Manole, Andreea, Bremner, Fion, Jaunmuktane, Zane, Dankwa, Lois, Rebelo, Adriana P., Woodward, Catherine E., Hargreaves, Iain P., Cortese, Andrea, Pittman, Alan M., Brandner, Sebastian, Polke, James M., Pitceathly, Robert D.S., Züchner, Stephan, Hanna, Michael G., Scherer, Steven S., Houlden, Henry, Reilly, Mary M.
Publicado 2019

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

por Pipis, Menelaos, Cortese, Andrea, Polke, James M, Poh, Roy, Vandrovcova, Jana, Laura, Matilde, Skorupinska, Mariola, Jacquier, Arnaud, Juntas-Morales, Raul, Latour, Philippe, Petiot, Philippe, Sole, Guilhem, Fromes, Yves, Shah, Sachit, Blake, Julian, Choi, Byung-Ok, Chung, Ki Wha, Stojkovic, Tanya, Rossor, Alexander M, Reilly, Mary M
Publicado 2022

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

por Nethisinghe, Suran, Lim, Wei N., Ging, Heather, Zeitlberger, Anna, Abeti, Rosella, Pemble, Sally, Sweeney, Mary G., Labrum, Robyn, Cervera, Charisse, Houlden, Henry, Rosser, Elisabeth, Limousin, Patricia, Kennedy, Angus, Lunn, Michael P., Bhatia, Kailash P., Wood, Nicholas W., Hardy, John, Polke, James M., Veneziano, Liana, Brusco, Alfredo, Davis, Mary B., Giunti, Paola
Publicado 2018

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

por Horga, Alejandro, Woodward, Catherine E., Mills, Alberto, Pareés, Isabel, Hargreaves, Iain P., Brown, Ruth M., Bugiardini, Enrico, Brooks, Tony, Manole, Andreea, Remzova, Elena, Rahman, Shamima, Reilly, Mary M., Houlden, Henry, Sweeney, Mary G., Brown, Garry K., Polke, James M., Gago, Federico, Parton, Matthew J., Pitceathly, Robert D. S., Hanna, Michael G.
Publicado 2019

Plasma amyloid-β ratios in autosomal dominant Alzheimer’s disease: the influence of genotype

por O'Connor, Antoinette, Pannee, Josef, Poole, Teresa, Arber, Charles, Portelius, Erik, Swift, Imogen J, Heslegrave, Amanda J, Abel, Emily, Willumsen, Nanet, Rice, Helen, Weston, Philip S J, Ryan, Natalie S, Polke, James M, Nicholas, Jennifer M, Mead, Simon, Wray, Selina, Chávez-Gutiérrez, Lucía, Frost, Chris, Blennow, Kaj, Zetterberg, Henrik, Fox, Nick C
Publicado 2021

Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges

por Efthymiou, Stephanie, Lemmers, Richard J. L. F., Vishnu, Venugopalan Y., Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J., Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M., Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M., Hanna, Michael G., Bugiardini, Enrico
Publicado 2023