Genetic Analysis in Neurology: The Next 10 Years

od Pittman, Alan, Hardy, John
Wydane 2013

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

od Lynch, David S., Chelban, Viorica, Vandrovcova, Jana, Pittman, Alan, Wood, Nicholas W., Houlden, Henry
Wydane w Ann Clin Transl Neurol (2018)

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

od Leija-Salazar, Melissa, Pittman, Alan, Mokretar, Katya, Morris, Huw, Schapira, Anthony H., Proukakis, Christos
Wydane w Front Neurol (2020)

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

od Mencacci, Niccolo E., Pittman, Alan M., Isaias, Ioannis U., Hardy, John, Klebe, Stephan, Bhatia, Kailash P., Wood, Nicholas W.
Wydane w Brain (2015)

Clinical and pathological features of an Alzheimer’s disease patient with the MAPT ΔK280 mutation

od Momeni, Parastoo, Pittman, Alan, Lashley, Tammaryn, Vandrovcova, Jana, Malzer, Elke, Luk, Connie, Hulette, Christine, Lees, Andrew, Revesz, Tamas, Hardy, John, de Silva, Rohan
Wydane 2007

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

od Kratschmer, Patrick, Lowe, Simon A., Buhl, Edgar, Chen, Ko‐Fan, Kullmann, Dimitri M., Pittman, Alan, Hodge, James J.L., Jepson, James E.C.
Wydane w Mov Disord (2021)

Evaluation of Germline BMP4 Mutation as a Cause of Colorectal Cancer

od 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
Wydane 2011

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

od 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
Wydane w Mol Genet Genomic Med (2020)

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

od 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
Wydane w Neurol Genet (2017)

Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes

od Lee, Ming Yang, Wang, Hong-Zhan, White, Thomas W., Brooks, Tony, Pittman, Alan, Halai, Heerni, Petrova, Anastasia, Xu, Diane, Hart, Stephen L., Kinsler, Veronica A., Di, Wei-Li
Wydane w J Invest Dermatol (2019)

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

od 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
Wydane w PLoS One (2017)

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

od 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
Wydane w Orphanet J Rare Dis (2017)

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

od 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.
Wydane w J Clin Med (2019)

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

od 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
Wydane 2012

The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression

od Pittman, Alan M., Naranjo, Silvia, Webb, Emily, Broderick, Peter, Lips, Esther H., van Wezel, Tom, Morreau, Hans, Sullivan, Kate, Fielding, Sarah, Twiss, Philip, Vijayakrishnan, Jayaram, Casares, Fernando, Qureshi, Mobshra, Gómez-Skarmeta, José Luis, Houlston, Richard S.
Wydane 2009

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

od 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
Wydane w J Neurol Neurosurg Psychiatry (2019)

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

od 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.
Wydane w Hum Mol Genet (2015)

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

od 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
Wydane w J Neurol Neurosurg Psychiatry (2018)

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

od 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
Wydane w Open Forum Infect Dis (2020)

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

od Vadgama, Nirmal, Pittman, Alan, Simpson, Michael, Nirmalananthan, Niranjanan, Murray, Robin, Yoshikawa, Takeo, De Rijk, Peter, Rees, Elliott, Kirov, George, Hughes, Deborah, Fitzgerald, Tomas, Kristiansen, Mark, Pearce, Kerra, Cerveira, Eliza, Zhu, Qihui, Zhang, Chengsheng, Lee, Charles, Hardy, John, Nasir, Jamal
Wydane w Eur J Hum Genet (2019)