Alan Pittman: search on Z-Library

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1

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

Bettencourt, Conceição, Salpietro, Vincenzo, Efthymiou, Stephanie, Chelban, Viorica, Hughes, Deborah, Pittman, Alan M., Federoff, Monica, Bourinaris, Thomas, Spilioti, Martha, Deretzi, Georgia, Kalant

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 4.80 MB

english, 2017

2

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

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

Journal:

Neurology: Genetics

Year:

2019

Language:

english

File:

PDF, 706 KB

english, 2019

3

Clinicopathologic and molecular spectrum of RNASEH1 -related mitochondrial disease

Bugiardini, Enrico, Poole, Olivia V., Manole, Andreea, Pittman, Alan M., Horga, Alejandro, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Holton, Janice L., Taanman, Jan-Willem, Plant, Gordon

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 481 KB

english, 2017

4

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

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,

Journal:

Year:

2017

Language:

english

File:

PDF, 2.21 MB

english, 2017

5

The CDH1-160C>A polymorphism is a risk factor for colorectal cancer

Alan M. Pittman, Philip Twiss, Peter Broderick, Steven Lubbe, Ian Chandler, Steven Penegar, Richard S. Houlston

Journal:

International Journal of Cancer

Year:

2009

Language:

english

File:

PDF, 79 KB

english, 2009

6

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis

Weihl, Conrad C., Baloh, Robert H., Lee, Youjin, Chou, Tsui-Fen, Pittman, Sara K., Lopate, Glenn, Allred, Peggy, Jockel-Balsarotti, Jennifer, Pestronk, Alan, Harms, Matthew B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 957 KB

english, 2015

7

In Vivo Evidence for β2 Nicotinic Acetylcholine Receptor Subunit Upregulation in Smokers as Compared With Nonsmokers With Schizophrenia

Esterlis, Irina, Ranganathan, Mohini, Bois, Frederic, Pittman, Brian, Picciotto, Marina R., Shearer, Lara, Anticevic, Alan, Carlson, Jon, Niciu, Mark J., Cosgrove, Kelly P., D’Souza, D. Cyril

Journal:

Biological Psychiatry

Year:

2014

Language:

english

File:

PDF, 499 KB

english, 2014

8

Seascape Models Reveal Places to Focus Coastal Fisheries Management

Stamoulis, Kostantinos A, Delevaux, Jade MS, Williams, Ivor D, Poti, Matthew, Lecky, Joey, Costa, Bryan, Kendall, Matthew S, Pittman, Simon J, Donovan, Mary K, Wedding, Lisa M, Friedlander, Alan M

Journal:

Ecological Applications

Year:

2018

Language:

english

File:

PDF, 747 KB

english, 2018

9

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

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

Journal:

Neurobiology of Aging

Year:

2009

Language:

english

File:

PDF, 485 KB

english, 2009

10

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

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, Weissba

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 333 KB

english, 2015

11

[BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health Great Ormond Street Hospital Conference - ()] Parallel session abstracts - C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition

Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A, Stadnik, Paulina, Joseph, Agnel P, Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover,

Language:

english

File:

PDF, 77 KB

english

12

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

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

Journal:

Frontiers in Neurology

Year:

2020

File:

PDF, 537 KB

2020

13

Tissue Sites of Degradation of Low Density Lipoprotein: Application of a Method for Determining the Fate of Plasma Proteins

Ray C. Pittman, Alan D. Attie, Thomas E. Carew and Daniel Steinberg

Journal:

Proceedings of the National Academy of Sciences

Year:

1979

Language:

english

File:

PDF, 914 KB

english, 1979

14

The role of ethylene oxide allergy in sterile shunt malfunctions

Pittman, Thomas, Wiliams, Dianne, Rathore, Mobeen, Knutsen, Alan P., Mueller, Kathleen R.

Journal:

British Journal of Neurosurgery

Year:

1994

Language:

english

File:

PDF, 392 KB

english, 1994

15

Hepatic Catabolism of Low Density Lipoprotein: Mechanisms and Metabolic Consequences

Alan D. Attie, Ray C. Pittman, Daniel Steinberg

Journal:

Year:

1982

Language:

english

File:

PDF, 1.65 MB

english, 1982

16

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

Beck, John, Pittman, Alan, Adamson, Gary, Campbell, Tracy, Kenny, Joanna, Houlden, Henry, Rohrer, Jon D., de Silva, Rohan, Shoai, Maryam, Uphill, James, Poulter, Mark, Hardy, John, Mummery, Catherine

Journal:

Neurobiology of Aging

Year:

2014

Language:

english

File:

PDF, 372 KB

english, 2014

17

Thrombosis and Haemostasis [Schattauer GmbH XIth International Congress on Thrombosis and Haemostasis - Brussels, Belgium (1987.07.06-1987.07.10)] XIth International Congress on Thrombosis and Haemostasis - DIRECTED MUTAGENESIS IN THE STUDY OF THE REQUIREMENTS FOR FACTOR VIII ACTIVITY IN VITRO AND IN VIVO

Kaufman, Randal J, Pittman, Debra D, Wasley, Louise C, Foster, W Barry, Amphlett, Godfrey W, Giles, Alan R

Year:

1987

File:

PDF, 92 KB

1987

18

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

Crowther-Swanepoel, Dalemari, Broderick, Peter, Webb, Emily, Sellick, Gabrielle, Wild, Ruth, Di Bernardo, Maria Chiara, Sullivan, Kate, Vijayakrishnan, Jayaram, Wang, Yufei, Pittman, Alan M

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 329 KB

english, 2008

19

Tissue sites of catabolism of rat and human low density lipoproteins in rats

Ray C. Pittman, Alan D. Attie, Thomas E. Carew, Daniel Steinberg

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1982

Language:

english

File:

PDF, 812 KB

english, 1982

20

Genetic Analysis in Neurology

Pittman, Alan, Hardy, John

Journal:

Year:

2013

Language:

english

File:

PDF, 304 KB

english, 2013

21

P3-161

Pittman, Alan, Myers, Amanda J., Hardy, John, Wood, Nicholas W., Lees, Andrew, de Silva, Rohan

Journal:

Alzheimer's & Dementia

Year:

2006

Language:

english

File:

PDF, 61 KB

english, 2006

22

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) 1221.e1–1221.e6]

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,

Journal:

Neurobiology of Aging

Year:

2015

Language:

english

File:

PDF, 136 KB

english, 2015

23

Peptides Volume 6 || In Vitro Preparations for Electrophysiological Study of Peptide Neurons and Actions

Boulton, Alan A., Baker, Glen B., Pittman, Q. J.

Year:

1987

Language:

english

File:

PDF, 5.94 MB

english, 1987

24

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Shaw-Smith, Charles, Pittman, Alan M, Willatt, Lionel, Martin, Howard, Rickman, Lisa, Gribble, Susan, Curley, Rebecca, Cumming, Sally, Dunn, Carolyn, Kalaitzopoulos, Dimitrios

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 307 KB

english, 2006

25

The tau H2 haplotype is almost exclusively Caucasian in origin

Whitney Evans, Hon Chung Fung, John Steele, Johanna Eerola, Pentti Tienari, Alan Pittman, Rohan de Silva, Amanda Myers, Fabienne Wavrant-De Vrieze, Andrew Singleton, John Hardy

Journal:

Neuroscience Letters

Year:

2004

Language:

english

File:

PDF, 152 KB

english, 2004

26

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

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

Journal:

Year:

2015

Language:

english

File:

PDF, 166 KB

english, 2015

27

Integrating acquired preparedness and dual process models of risk for heavy drinking and related problems.

Corbin, William R., Papova, Anna, Morean, Meghan E., O’Malley, Stephanie S., Krishnan-Sarin, Suchitra, Abi-Dargham, Anissa, Anticevic, Alan, Pearlson, Godfrey, Petrakis, Ismene, Pittman, Brian P., Kry

Journal:

Psychology of Addictive Behaviors

Year:

2015

Language:

english

File:

PDF, 362 KB

english, 2015

28

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

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

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 381 KB

english, 2017

29

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

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

Journal:

Year:

2011

Language:

english

File:

PDF, 376 KB

english, 2011

30

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

Jaeger, Emma, Webb, Emily, Howarth, Kimberley, Carvajal-Carmona, Luis, Rowan, Andrew, Broderick, Peter, Walther, Axel, Spain, Sarah, Pittman, Alan, Kemp, Zoe

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 204 KB

english, 2007

31

O2-02-02: The H1c risk haplotype of the MAPT gene is over-expressed in human temporal cortex relative to the other common alleles of MAPT

Amanda J. Myers, Alan M. Pittman, Kristen Rohrer, Alice Zhao, Doris Leung, Leslie Bryden, Mona Kaleem, Lauren Marlowe, Hon Chung Fung, Andrew Lees, Chris M. Morris, Rohan de Silva, John A. Hardy

Journal:

Alzheimer's & Dementia

Year:

2006

Language:

english

File:

PDF, 51 KB

english, 2006

32

Tangle Diseases and the Tau Haplotypes

Hardy, John, Pittman, Alan, Myers, Amanda, Fung, Hon Chung, de Silva, Rohan, Duckworth, Jaime

Journal:

Alzheimer Disease & Associated Disorders

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

33

Analysis of the genetic variability in Parkinson's disease from Southern Spain

Bandrés-Ciga, Sara, Mencacci, Niccolò Emmanuele, Durán, Raquel, Barrero, Francisco Javier, Escamilla-Sevilla, Francisco, Morgan, Sarah, Hehir, Jason, Vives, Francisco, Hardy, John, Pittman, Alan M.

Journal:

Neurobiology of Aging

Year:

2016

Language:

english

File:

PDF, 245 KB

english, 2016

34

PO103 Impulse control disorders in familial parkinson’s disease

Rees, Richard N, Tan, Manuela MX, Pittman, Alan M, Ben-Shlomo, Yoav, Williams, Nigel M, Grosset, Donald G, Morris, Huw R

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

35

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

Vadgama, Nirmal, Pittman, Alan, Simpson, Michael, Nirmalananthan, Niranjanan, Murray, Robin, Yoshikawa, Takeo, De Rijk, Peter, Rees, Elliott, Kirov, George, Hughes, Deborah, Fitzgerald, Tomas, Kristia

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1.05 MB

english, 2019

36

202: Severity of tau deposition in progressive supranuclear palsy is associated with clinical phenotype

David R. Williams, Janice Holton, Kate Strand, Alan Pittman, Rohan de Silva, Andrew J. Lees, Tamas Revesz

Journal:

Journal of Clinical Neuroscience

Year:

2008

Language:

english

File:

PDF, 83 KB

english, 2008

37

[Part 2: Biological Sciences] || Metabolism of Native and of Lactosylated Human Low Density Lipoprotein: Evidence for Two Pathways for Catabolism of Exogenous Proteins in Rat Hepatocytes

Alan D. Attie, Ray C. Pittman and Daniel Steinberg

Journal:

Proceedings of the National Academy of Sciences

Year:

1980

Language:

english

File:

PDF, 977 KB

english, 1980

38

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Gang, Qiang, Bettencourt, Conceição, Machado, Pedro M., Brady, Stefen, Holton, Janice L., Pittman, Alan M., Hughes, Deborah, Healy, Estelle, Parton, Matthew, Hilton-Jones, David, Shieh, Perry B., Need

Journal:

Neurobiology of Aging

Year:

2016

Language:

english

File:

PDF, 2.09 MB

english, 2016

39

Peptides Volume 6 || Immunocytochemical Techniques in Peptide Localization: Possibilities and Pitfalls

Boulton, Alan A., Baker, Glen B., Pittman, Q. J.

Year:

1987

Language:

english

File:

PDF, 9.39 MB

english, 1987

40

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

Broderick, Peter, Carvajal-Carmona, Luis, Pittman, Alan M, Webb, Emily, Howarth, Kimberley, Rowan, Andrew, Lubbe, Steven, Spain, Sarah, Sullivan, Kate, Fielding, Sarah

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 239 KB

english, 2007

41

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

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,

Journal:

Neurobiology of Aging

Year:

2015

Language:

english

File:

PDF, 624 KB

english, 2015

42

A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism

Kara, Eleanna, Kiely, Aoife P., Proukakis, Christos, Giffin, Nicola, Love, Seth, Hehir, Jason, Rantell, Khadija, Pandraud, Amelie, Hernandez, Dena G., Nacheva, Elizabeth, Pittman, Alan M., Nalls, Mike

Journal:

Year:

2014

Language:

english

File:

PDF, 458 KB

english, 2014

43

Fluorescent-Antibody Identification of Group A Streptococci from Throat Swabs

Moody, Max D., Siegel, Alan C., Pittman, Bertie, Winter, Carrie C.

Journal:

American Journal of Public Health and the Nations Health

Year:

1963

Language:

english

File:

PDF, 1.11 MB

english, 1963

44

Nitric oxide from nitrite reduction by hemoglobin in the plasma and erythrocytes

Kejing Chen, Barbora Piknova, Roland N. Pittman, Alan N. Schechter, Aleksander S. Popel

Journal:

Year:

2008

Language:

english

File:

PDF, 1.48 MB

english, 2008

45

[Handbook of Clinical Neurology] Dementias Volume 89 || Genetics of progressive supranuclear palsy

Year:

2008

Language:

english

File:

PDF, 187 KB

english, 2008

46

Development, characterisation and epitope mapping of novel monoclonal antibodies for DJ-1 (PARK7) protein

Rina Bandopadhyay, David W. Miller, Ann E. Kingsbury, Terry P. Jowett, Mona M. Kaleem, Alan M. Pittman, Rohan de Silva, Mark R. Cookson, Andrew J. Lees

Journal:

Neuroscience Letters

Year:

2005

Language:

english

File:

PDF, 314 KB

english, 2005

47

Peptides Volume 6 || In Vivo and In Vitro Studies on Peptide Release

Boulton, Alan A., Baker, Glen B., Pittman, Q. J.

Year:

1987

Language:

english

File:

PDF, 6.99 MB

english, 1987

48

Unsafe at Any Age: A Retrospective Review of All-Terrain Vehicle Injuries in Two Level I Trauma Centers from 1995 to 2003

Smith, Lou M., Pittman, Michelle A., Marr, Alan B., Swan, Kevin, Singh, Shivani, Akin, Shelley J., Watson, Diana K., Caldito, Gloria, Vidal, Rosa, Wise, William R., Moore, Frederick A.

Journal:

The Journal of Trauma Injury Infection and Critical Care

Year:

2005

Language:

english

File:

PDF, 241 KB

english, 2005

49

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson’s disease

Blauwendraat, Cornelis, Kia, Demis A., Pihlstrom, Lasse, Gan-Or, Ziv, Lesage, Suzanne, Gibbs, J. Raphael, Ding, Jinhui, Alcalay, Roy N., Hassin-Baer, Sharon, Pittman, Alan M., Brooks, Janet, Edsall, C

Journal:

Neurobiology of Aging

Year:

2017

Language:

english

File:

PDF, 364 KB

english, 2017

50

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy

David R. Williams, Alan M. Pittman, Tamas Revesz, Andrew J. Lees, Rohan de Silva

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 50 KB

english, 2007

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