GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy

por Lynch, David S., Chelban, Viorica, Vandrovcova, Jana, Pittman, Alan, Wood, Nicholas W., Houlden, Henry
Publicado 2018

Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease

por Leija-Salazar, Melissa, Pittman, Alan, Mokretar, Katya, Morris, Huw, Schapira, Anthony H., Proukakis, Christos
Publicado 2020

Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

por Mencacci, Niccolo E., Pittman, Alan M., Isaias, Ioannis U., Hardy, John, Klebe, Stephan, Bhatia, Kailash P., Wood, Nicholas W.
Publicado 2015

Impaired Pre‐Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1‐Linked Dyskinesia

por Kratschmer, Patrick, Lowe, Simon A., Buhl, Edgar, Chen, Ko‐Fan, Kullmann, Dimitri M., Pittman, Alan, Hodge, James J.L., Jepson, James E.C.
Publicado 2021

Presacral malakoplakia presenting as foot drop: a case report

por Yates, Tom A., Devlin, Katie, Arnaout, Abed, Hurt, William, Stone, Neil, Everett, Kate V., Pittman, Alan, Patel, Hardik, Heenan, Susan, Hart, Paul, Harrison, Thomas S.
Publicado 2023

Evaluation of Germline BMP4 Mutation as a Cause of Colorectal Cancer

por Lubbe, Steven J, Pittman, Alan M, Matijssen, Cornelis, Twiss, Philip, Olver, Bianca, Lloyd, Amy, Qureshi, Mobshra, Brown, Nathan, Nye, Emma, Stamp, Gordon, Blagg, Julian, Houlston, Richard S
Publicado 2011

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

por Cauley, Edmund S., Pittman, Alan, Mummidivarpu, Swati, Karimiani, Ehsan G., Martinez, Samantha, Moroni, Isabella, Boostani, Reza, Podini, Daniele, Mora, Marina, Jamshidi, Yalda, Hoffman, Eric P., Manzini, M. Chiara
Publicado 2020

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

por Bugiardini, Enrico, Rossor, Alexander M., Lynch, David S., Swash, Michael, Pittman, Alan M., Blake, Julian C., Hanna, Michael G., Houlden, Henry, Holton, Janice L., Reilly, Mary M., Matthews, Emma
Publicado 2017

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation

por Nacheva, Elizabeth, Mokretar, Katya, Soenmez, Aynur, Pittman, Alan M., Grace, Colin, Valli, Roberto, Ejaz, Ayesha, Vattathil, Selina, Maserati, Emanuela, Houlden, Henry, Taanman, Jan-Willem, Schapira, Anthony H., Proukakis, Christos
Publicado 2017

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

por Bettencourt, Conceição, Salpietro, Vincenzo, Efthymiou, Stephanie, Chelban, Viorica, Hughes, Deborah, Pittman, Alan M., Federoff, Monica, Bourinaris, Thomas, Spilioti, Martha, Deretzi, Georgia, Kalantzakou, Triantafyllia, Houlden, Henry, Singleton, Andrew B., Xiromerisiou, Georgia
Publicado 2017

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

por Bugiardini, Enrico, Pope, Simon, Feichtinger, René G., Poole, Olivia V., Pittman, Alan M., Woodward, Cathy E., Heales, Simon, Quinlivan, Rosaline, Houlden, Henry, Mayr, Johannes A., Hanna, Michael G., Pitceathly, Robert D.S.
Publicado 2019

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

por Kara, Eleanna, Ling, Helen, Pittman, Alan M., Shaw, Karen, de Silva, Rohan, Simone, Roberto, Holton, Janice L., Warren, Jason D., Rohrer, Jonathan D., Xiromerisiou, Georgia, Lees, Andrew, Hardy, John, Houlden, Henry, Revesz, Tamas
Publicado 2012

Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy

por Riachi, Melissa, Polubothu, Satyamaanasa, Stadnik, Paulina, Hughes, Connor, Martin, Sara Barberan, Charman, Carolyn R., Cheng, Iek Leng, Gholam, Karolina, Ogunbiyi, Olumide, Paige, David G., Sebire, Neil J., Pittman, Alan, Di, Wei-Li, Kinsler, Veronica A.
Publicado 2021

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

por Mehta, Puja R, Jones, Ashley R, Opie-Martin, Sarah, Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Smith, Bradley N, Topp, Simon, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Morgan, Sarah, Pittman, Alan, Al-Chalabi, Ammar
Publicado 2019

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

por Mencacci, Niccolo E., R'bibo, Léa, Bandres-Ciga, Sara, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Batla, Amit, Bhatia, Kailash P., Pittman, Alan M., Hardy, John, Weissbach, Anne, Klein, Christine, Gasser, Thomas, Lohmann, Ebba, Wood, Nicholas W.
Publicado 2015

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

por 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
Publicado 2018

Genome-Wide Association Study Identifies Novel Colony Stimulating Factor 1 Locus Conferring Susceptibility to Cryptococcosis in Human Immunodeficiency Virus-Infected South Africans

por Kannambath, Shichina, Jarvis, Joseph N, Wake, Rachel M, Longley, Nicky, Loyse, Angela, Matzaraki, Vicky, Aguirre-Gamboa, Raúl, Wijmenga, Cisca, Doyle, Ronan, Paximadis, Maria, Tiemessen, Caroline T, Kumar, Vinod, Pittman, Alan, Meintjes, Graeme, Harrison, Thomas S, Netea, Mihai G, Bicanic, Tihana
Publicado 2020

Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’ cohort

por Grigoriadis, Dionysios, Sackey, Ege, Riches, Katie, van Zanten, Malou, Brice, Glen, England, Ruth, Mills, Mike, Dobbins, Sara E., Lee, Li Ling, Jeffery, Steve, Dong, Liang, Savage, David B., Mortimer, Peter S., Keeley, Vaughan, Pittman, Alan, Gordon, Kristiana, Ostergaard, Pia
Publicado 2022

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

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

por Morgan, Sarah, Shatunov, Aleksey, Sproviero, William, Jones, Ashley R., Shoai, Maryam, Hughes, Deborah, Al Khleifat, Ahmad, Malaspina, Andrea, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Sidle, Katie, Orrell, Richard W., Fratta, Pietro, Hardy, John, Pittman, Alan, Al-Chalabi, Ammar
Publicado 2017