Robert D.S. Pitceathly: search on Z-Library

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1

Mitochondrial Extrapyramidal Syndromes

Pitceathly, Robert D. S.

Journal:

Year:

2016

Language:

english

File:

PDF, 122 KB

english, 2016

2

Rhabdomyolysis: a genetic perspective

Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert DS, Zanoteli, Edmar, Becker, Jefferson, Holton, Janice L, Houlden, Henry, Jungbluth, Heinz, Quinlivan, Ros

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.48 MB

english, 2015

3

Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes

Paramasivam, Arumugam, Venkatapathi, Challa, Sandeep, Gampa, Meena, Angamuthu K., Uppin, Megha S., Mohapatra, Swati, Pitceathly, Robert D.S., Thangaraj, Kumarasamy

Journal:

Year:

2019

Language:

english

File:

PDF, 1.22 MB

english, 2019

4

Toward a mtDNA locus-specific mutation database using the LOVD platform

Joanna L. Elson, Mary G. Sweeney, Vincent Procaccio, John W. Yarham, Antonio Salas, Qing-Peng Kong, Francois H. van der Westhuizen, Robert D.S. Pitceathly, David R. Thorburn, Marie T. Lott, Douglas C.

Journal:

Year:

2012

Language:

english

File:

PDF, 204 KB

english, 2012

5

Corneal confocal microscopy: A novel means to detect nerve fibre damage in idiopathic small fibre neuropathy

Mitra Tavakoli, Andrew Marshall, Robert Pitceathly, Hassan Fadavi, David Gow, Mark E. Roberts, Nathan Efron, Andrew JM Boulton, Rayaz A. Malik

Journal:

Experimental Neurology

Year:

2010

Language:

english

File:

PDF, 301 KB

english, 2010

6

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

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.

Journal:

Year:

2013

Language:

english

File:

PDF, 2.08 MB

english, 2013

7

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

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.

Journal:

Year:

2013

Language:

english

File:

PDF, 42 KB

english, 2013

8

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

Hall, Andrew M, Vilasi, Annalisa, Garcia-Perez, Isabel, Lapsley, Marta, Alston, Charlotte L, Pitceathly, Robert D S, McFarland, Robert, Schaefer, Andrew M, Turnbull, Doug M, Beaumont, Nick J, Hsuan, J

Journal:

Kidney International

Year:

2015

Language:

english

File:

PDF, 1.08 MB

english, 2015

9

A dizzy and disorientated DJ

Rinaldi, S., Pitceathly, R. D., Roberts, M. E.

Journal:

Practical Neurology

Year:

2011

Language:

english

File:

PDF, 134 KB

english, 2011

10

Mitochondrial myopathies in adults and children

Pitceathly, Robert D.S., McFarland, Robert

Journal:

Current Opinion in Neurology

Year:

2014

Language:

english

File:

PDF, 228 KB

english, 2014

11

Cardiac manifestations of mitochondrial disorders: reply

Limongelli, Giuseppe, Rahman, Shamima, Pitceathly, Robert D.S., Hanna, Michael G., Elliott, Perry M.

Journal:

European Journal of Heart Failure

Year:

2010

Language:

english

File:

PDF, 78 KB

english, 2010

12

COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood

Pitceathly, Robert D. S.

Journal:

Year:

2013

Language:

english

File:

PDF, 582 KB

english, 2013

13

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Pitceathly, R. D. S., Smith, C., Fratter, C., Alston, C. L., He, L., Craig, K., Blakely, E. L., Evans, J. C., Taylor, J., Shabbir, Z., Deschauer, M., Pohl, U., Roberts, M. E., Jackson, M. C., Halfpenn

Journal:

Year:

2012

Language:

english

File:

PDF, 778 KB

english, 2012

14

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies

Scalco, Renata Siciliani, Gardiner, Alice R., Pitceathly, Robert D.S., Hilton-Jones, David, Schapira, Anthony H, Turner, Chris, Parton, Matt, Desikan, Mahalekshmi, Barresi, Rita, Marsh, Julie, Manzur,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 961 KB

english, 2016

15

NDUFA4 (Renamed COXFA4) Is a Cytochrome -c Oxidase Subunit

Pitceathly, Robert D.S., Taanman, Jan-Willem

Journal:

Trends in Endocrinology & Metabolism

Year:

2018

Language:

english

File:

PDF, 263 KB

english, 2018

16

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

Pitceathly, Robert DS, Viscomi, Carlo

Journal:

EMBO Molecular Medicine

Year:

2016

Language:

english

File:

PDF, 281 KB

english, 2016

17

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

Rajakulendran, Sanjeev, Pitceathly, Robert D. S., Taanman, Jan-Willem, Costello, Harry, Sweeney, Mary G., Woodward, Cathy E., Jaunmuktane, Zane, Holton, Janice L., Jacques, Thomas S., Harding, Brian N

Journal:

Year:

2016

Language:

english

File:

PDF, 3.51 MB

english, 2016

18

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

Poole, Olivia V., Everett, Chris M., Gandhi, Sonia, Marino, Silvia, Bugiardini, Enrico, Woodward, Cathy, Lam, Amanda, Quinlivan, Ros, Hanna, Michael G., Pitceathly, Robert D.S.

Journal:

Year:

2019

Language:

english

File:

PDF, 1.23 MB

english, 2019

19

Chronic pain is common in mitochondrial disease

van den Ameele, Jelle, Fuge, Joshua, Pitceathly, Robert D.S., Berry, Sarah, McIntyre, Zoe, Hanna, Michael G., Lee, Michael, Chinnery, Patrick F.

Journal:

Neuromuscular Disorders

Year:

2020

Language:

english

File:

PDF, 1.10 MB

english, 2020

20

CSF lactate

Baheerathan, Aravindhan, Pitceathly, Robert D S, Curtis, Carmel, Davies, Nicholas W S

Journal:

Practical Neurology

Year:

2020

File:

PDF, 245 KB

2020

21

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Paramasivam, Arumugam, Meena, Angamuthu K., Venkatapathi, Challa, Pitceathly, Robert D.S., Thangaraj, Kumarasamy

Journal:

Journal of Molecular Neuroscience

Year:

2020

File:

PDF, 1.10 MB

2020

22

Moving Towards Clinical Trials for Mitochondrial Diseases

Pitceathly, Robert D.S., Keshavan, Nandaki, Rahman, Joyeeta, Rahman, Shamima

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 1.99 MB

2020

23

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Paramasivam, Arumugam, Meena, Angamuthu K., Venkatapathi, Challa, Pitceathly, Robert D. S., Thangaraj, Kumarasamy

Journal:

Journal of Molecular Neuroscience

Year:

2020

File:

PDF, 145 KB

2020

24

The Human Mitochondrial Genome || Mitochondrial DNA-related diseases associated with single large-scale deletions and point mutations

Pitceathly, Robert D.S.

Year:

2020

File:

PDF, 1.54 MB

2020

25

Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports

Roper, Tayeba, Harber, Mark, Jones, Gareth, Pitceathly, Robert D. S., Salama, Alan D.

Journal:

Year:

2020

File:

PDF, 1.04 MB

2020

26

Comment on âA severe linezolidâinduced rhabdomyolysis and lactic acidosis in Leigh syndromeâ

Bindoff, Laurence A., Brown, David A., Gorman, GrÃ¡inne S., Karaa, Amel, Keshavan, Nandaki, Lamperti, Costanza, Mancuso, Michelangelo, McFarland, Robert, Ng, Yi Shiau, O'Callaghan, Mar, Pitceathly, Ro

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 1.71 MB

2020

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