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1

Nutrition and Acne: Therapeutic Potential of Ketogenic Diets

Paoli, A., Grimaldi, K., Toniolo, L., Canato, M., Bianco, A., Fratter, A.

Journal:

Skin Pharmacology and Applied Skin Physiology

Year:

2012

Language:

english

File:

PDF, 332 KB

english, 2012

2

Effects of a New Nutraceutical Formulation (Berberine, Red Yeast Rice and Chitosan) on Non-HDL Cholesterol Levels in Individuals with Dyslipidemia: Results from a Randomized, Double Blind, Placebo-Controlled Study

Spigoni, Valentina, Aldigeri, Raffaella, Antonini, Monica, Micheli, Maria, Fantuzzi, Federica, Fratter, Andrea, Pellizzato, Marzia, Derlindati, Eleonora, Zavaroni, Ivana, Bonadonna, Riccardo, Dei Cas,

Journal:

International Journal of Molecular Sciences

Year:

2017

Language:

english

File:

PDF, 646 KB

english, 2017

3

The SPOT-5 mission

C.H. Dagras, M. Duran, O. Zarrouati, C. Fratter

Journal:

Acta Astronautica

Year:

1995

Language:

english

File:

PDF, 857 KB

english, 1995

4

Swarm Absolute Scalar and Vector Magnetometer Based on Helium 4 Optical Pumping

Jean-Michel Leger, François Bertrand, Thomas Jager, Matthieu Le Prado, Isabelle Fratter, Jean-Claude Lalaurie

Journal:

Procedia Chemistry

Year:

2009

Language:

english

File:

PDF, 376 KB

english, 2009

5

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Hannan, F. M., Nesbit, M. A., Zhang, C., Cranston, T., Curley, A. J., Harding, B., Fratter, C., Rust, N., Christie, P. T., Turner, J. J. O., Lemos, M. C., Bowl, M. R., Bouillon, R., Brain, C., Bridges

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 366 KB

english, 2012

6

[IEEE 2010 Ninth IEEE Sensors Conference (SENSORS 2010) - Kona, HI (2010.11.1-2010.11.4)] 2010 IEEE Sensors - SWARM Absolute Scalar Magnetometer accuracy: Analyses and measurement results

Jager, T, Le, Jean-Michel, Bertrand, F, Fratter, I, Lalaurie, J.-C

Year:

2010

Language:

english

File:

PDF, 687 KB

english, 2010

7

In-flight performance of the Absolute Scalar Magnetometer vector mode on board the Swarm satellites

Léger, Jean-Michel, Jager, Thomas, Bertrand, François, Hulot, Gauthier, Brocco, Laura, Vigneron, Pierre, Lalanne, Xavier, Chulliat, Arnaud, Fratter, Isabelle

Journal:

Earth Planets and Space

Year:

2015

Language:

english

File:

PDF, 3.39 MB

english, 2015

8

Swarm Absolute Scalar Magnetometers first in-orbit results

Fratter, Isabelle, Léger, Jean-Michel, Bertrand, François, Jager, Thomas, Hulot, Gauthier, Brocco, Laura, Vigneron, Pierre

Journal:

Acta Astronautica

Year:

2016

Language:

english

File:

PDF, 4.13 MB

english, 2016

9

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Hikmat, Omar, Tzoulis, Charalampos, Chong, Wui K, Chentouf, Latifa, Klingenberg, Claus, Fratter, Carl, Carr, Lucinda J, Prabhakar, Prab, Kumaraguru, Nandhini, Gissen, Paul, Cross, J Helen, Jacques, Th

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.10 MB

english, 2017

10

Effect of resveratrol on blood pressure: A systematic review and meta-analysis of randomized, controlled, clinical trials

Fogacci, Federica, Tocci, Giuliano, Presta, Vivianne, Fratter, Andrea, Borghi, Claudio, Cicero, Arrigo F. G.

Journal:

Critical Reviews in Food Science and Nutrition

Year:

2018

Language:

english

File:

PDF, 1.45 MB

english, 2018

11

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Hikmat, Omar, Tzoulis, Charalampos, Chong, Wui K., Chentouf, Latifa, Klingenberg, Claus, Fratter, Carl, Carr, Lucinda J., Prabhakar, Prab, Kumaraguru, Nandhini, Gissen, Paul, Cross, J. Helen, Jacques,

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 142 KB

english, 2018

12

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I.C., Feichtinger, René G., Delon, Isabelle, Pagnamenta

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.43 MB

english, 2018

13

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours

K. J. Bradley, B. M. Cavaco, M. R. Bowl, B. Harding, T. Cranston, C. Fratter, G. M. Besser, M. da Conceição Pereira, M. W. J. Davie, N. Dudley, V. Leite, G. P. Sadler, A. Seller, R. V. Thakker

Journal:

Clinical Endocrinology

Year:

2006

Language:

english

File:

PDF, 242 KB

english, 2006

14

New association of surfactants for the production of food and cosmetic nanoemulsions: preliminary development and characterization

Andrea Fratter, Alessandra Semenzato

Journal:

International Journal of Cosmetic Science

Year:

2011

Language:

english

File:

PDF, 518 KB

english, 2011

15

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode

GEETHA ANAND, NITIN MAHESHWARI, DAVID ROBERTS, ANURUDDHA PADENIYA, MICHELE HAMILTON-AYERS, MARJO VAN DER KNAAP, CARL FRATTER, SANDEEP JAYAWANT

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 336 KB

english, 2010

16

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

J. Poulton, M. Hirano, A. Spinazzola, M. Arenas Hernandez, C. Jardel, A. Lombès, B. Czermin, R. Horvath, J.W. Taanman, A. Rotig, M. Zeviani, C. Fratter

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2009

Language:

english

File:

PDF, 134 KB

english, 2009

17

A scanning electrochemical microscopy procedure for micropatterning Al2O3-thin films deposited on a platinum substrate

Dario Battistel, Salvatore Daniele, Davide Fratter

Journal:

Electrochimica Acta

Year:

2012

Language:

english

File:

PDF, 836 KB

english, 2012

18

G.P.3.04 Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients

C. Fratter, G. Gorman, J.D. Stewart, M. Buddles, C. Smith, J. Evans, A. Seller, J. Poulton, M. Roberts, M.G. Hanna, S. Rahman, S.E. Omer, T. Klopstock, B. Schoser, C. Kornblum, B. Lecky, P.F. Chinnery

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

19

P53 Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

R.D.S. Pitceathly, E. Fassone, J.-W. Taanman, M. Sadowski, C. Fratter, E.E. Mudanohwo, C.E. Woodward, M.G. Sweeney, J.L. Holton, M.G. Hanna, S. Rahman

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 42 KB

english, 2011

20

P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease

J. Uusimaa, H. Jungbluth, C. Fratter, E.M. Fernandez-Vizarra Bailey, B.G. Crisponi, L. Feng, M. Zeviani, I. Hughes, E. Treacy, J. Birks, G.K. Brown, C. Sewry, F. Muntoni, J. Poulton

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 41 KB

english, 2011

21

P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle

C. Fratter, P. Raman, C. Alston, E.L. Blakely, K. Craig, C. Smith, J. Evans, A. Seller, B. Czermin, M.G. Hanna, J. Poulton, C. Brierley, T.G. Staunton, P.D. Turnpenny, A.M. Schaefer, P.F. Chinnery, R.

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 41 KB

english, 2011

22

O02 Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations

C. Liao, N. Ashley, K. Morten, K. Phadwal, A. Williams, I. Fearnley, L. Rosser, J. Lowndes, C. Fratter, D. Ferguson, L. Vay, G. Quaghebeur, L. Macleod, A. Gabriel, S. Downes, K. Simon, M. Votruba, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 87 KB

english, 2012

23

P60 Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease

R.D.S. Piceathly, C. Smith, C. Fratter, E.L. Blakely, C.L. Alston, M. Deschauer, R. Horvath, M.G. Hanna, P.F. Chinnery, D.M. Turnbull, J. Poulton, R.W. Taylor, G.S. Gorman

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

24

[IEEE IGARSS 2003. 2003 IEEE International Geoscience and Remote Sensing Symposium. - Toulouse, France (21-25 July 2003)] IGARSS 2003. 2003 IEEE International Geoscience and Remote Sensing Symposium. Proceedings (IEEE Cat. No.03CH37477) - SPOT5: system overview and image ground segment

Gleyzes, J.-P., Meygret, A., Fratter, C., Panem, C., Baillarin, S., Valorge, C.

Year:

2003

Language:

english

File:

PDF, 2.13 MB

english, 2003

25

Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features

Uusimaa, Johanna, Gowda, Vasantha, McShane, Anthony, Smith, Conrad, Evans, Julie, Shrier, Annie, Narasimhan, Manisha, O'Rourke, Anthony, Rajabally, Yusuf, Hedderly, Tammy, Cowan, Frances, Fratter, Car

Journal:

Year:

2013

Language:

english

File:

PDF, 255 KB

english, 2013

26

SPIE Proceedings [SPIE SPIE's International Symposium on Optical Science, Engineering, and Instrumentation - Denver, CO (Sunday 18 July 1999)] Earth Observing Systems IV - SPOT5 system

Seguela, Dominique, Fratter, Claude, Munier, Philippe, Barnes, William L.

Year:

1999

Language:

english

File:

PDF, 670 KB

english, 1999

27

Unexplained gastrointestinal symptoms: Think mitochondrial disease

Chapman, Thomas P., Hadley, Gina, Fratter, Carl, Cullen, Sue N., Bax, Bridget E., Bain, Murray D., Sapsford, Robert A., Poulton, Joanna, Travis, Simon P.

Journal:

Digestive and Liver Disease

Year:

2014

Language:

english

File:

PDF, 682 KB

english, 2014

28

Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing

White, Helen E., Durston, Victoria J., Seller, Anneke, Fratter, Carl, Harvey, John F., Cross, Nicholas C.P.

Journal:

Genetic Testing

Year:

2005

Language:

english

File:

PDF, 316 KB

english, 2005

29

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

Pitceathly, R. D. S., Fassone, E., Taanman, J.-W., Sadowski, M., Fratter, C., Mudanohwo, E. E., Woodward, C. E., Sweeney, M. G., Holton, J. L., Hanna, M. G., Rahman, S.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 886 KB

english, 2011

30

G.P.191

Cortese, A., Ellis, M., Fratter, C., Fox, Z., Chambers, D., Hodsdon, P., Hargreaves, I., Kinali, M., Rahman, S., Sewry, C., Muntoni, F., Poulton, J., Phadke, R.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

31

New Chitosan Salt in Gastro-Resistant Oral Formulation Could Interfere with Enteric Bile Salts Emulsification of Diet Fats: Preliminary Laboratory Observations and Physiologic Rationale

Fratter, Andrea, Frare, Carmen, Uras, Giovanni, Bonini, Mauro, Casari Bariani, Enrico, Ragazzo, Barbara, Gaballo, Paolo, Longobardi, Pasquale, Codemo, Carlo, Paoli, Antonio

Journal:

Journal of Medicinal Food

Year:

2014

Language:

english

File:

PDF, 274 KB

english, 2014

32

[IEEE 2010 Ninth IEEE Sensors Conference (SENSORS 2010) - Kona, HI (2010.11.1-2010.11.4)] 2010 IEEE Sensors - Development and space qualification of the swarm Absolute Scalar Magnetometer

Fratter, Isabelle, Le, Jean-Michel, Bertrand, Fran, Jager, Thomas, Le Prado, Matthieu, Fourcault, William

Year:

2010

Language:

english

File:

PDF, 605 KB

english, 2010

33

A national perspective on prenatal testing for mitochondrial disease

Nesbitt, Victoria, Alston, Charlotte L, Blakely, Emma L, Fratter, Carl, Feeney, Catherine L, Poulton, Joanna, Brown, Garry K, Turnbull, Doug M, Taylor, Robert W, McFarland, Robert

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 268 KB

english, 2014

34

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase mutations

Pitceathly, R. D. S., Tomlinson, S. E., Hargreaves, I., Bhardwaj, N., Holton, J. L., Morrow, J. M., Evans, J., Smith, C., Fratter, C., Woodward, C. E., Sweeney, M. G., Rahman, S., Hanna, M. G.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2013

Language:

english

File:

PDF, 2.17 MB

english, 2013

35

POG04 Multiple mitochondrial DNA deletions, cyclooxygenase-negative fibres and slowly progressive cognitive decline with psychiatric features

Rajakulendran, S., Pitceathly, R. D. S., Warren, J., Woodward, C., Sweeney, M. G., Hargreaves, I., Fratter, C., Heales, S., Taylor, R., Holton, J. L., Rahman, S., Hanna, M. G.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2010

Language:

english

File:

PDF, 66 KB

english, 2010

36

Simulation of the experiment data from WINDII flown on the UARS/NASA satellite

Thuillier, G., Christophe, J., Azria, G., Herse, M., Fauliot, V., Girod, F., Fratter, C., Thouvenin, J.P., Solheim, B.H.

Journal:

SIMULATION: Transactions of the Society for Modeling and Simulation

Year:

1992

Language:

english

File:

PDF, 1.18 MB

english, 1992

37

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

Fratter, C., Gorman, G. S., Stewart, J. D., Buddles, M., Smith, C., Evans, J., Seller, A., Poulton, J., Roberts, M., Hanna, M. G., Rahman, S., Omer, S. E., Klopstock, T., Schoser, B., Kornblum, C., Cz

Journal:

Year:

2010

Language:

english

File:

PDF, 506 KB

english, 2010

38

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Broomfield, Alexander, Sweeney, Mary G., Woodward, Cathy E., Fratter, Carl, Morris, Andrew M., Leonard, James V., Abulhoul, Lara, Grunewald, Stephanie, Clayton, Peter T., Hanna, Michael G., Poulton, J

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 489 KB

english, 2015

39

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

Ashley, N., O'Rourke, A., Smith, C., Adams, S., Gowda, V., Zeviani, M., Brown, G. K., Fratter, C., Poulton, J.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 30 KB

english, 2009

40

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

Uusimaa, J., Jungbluth, H., Fratter, C., Crisponi, G., Feng, L., Zeviani, M., Hughes, I., Treacy, E. P., Birks, J., Brown, G. K., Sewry, C. A., McDermott, M., Muntoni, F., Poulton, J.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 624 KB

english, 2011

41

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

Ashley, N., O'Rourke, A., Smith, C., Adams, S., Gowda, V., Zeviani, M., Brown, G. K., Fratter, C., Poulton, J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 2.62 MB

english, 2008

42

Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta

Marchington, D., Malik, S., Banerjee, A., Turner, K., Samuels, D., Macaulay, V., Oakeshott, P., Fratter, C., Kennedy, S., Poulton, J.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 173 KB

english, 2010

43

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Fratter, C., Raman, P., Alston, C. L., Blakely, E. L., Craig, K., Smith, C., Evans, J., Seller, A., Czermin, B., Hanna, M. G., Poulton, J., Brierley, C., Staunton, T. G., Turnpenny, P. D., Schaefer, A

Journal:

Year:

2011

Language:

english

File:

PDF, 168 KB

english, 2011

44

SPIE Proceedings [SPIE Orlando '91, Orlando, FL - Orlando, FL (Monday 1 April 1991)] Future European and Japanese Remote-Sensing Sensors and Programs - SPOT 4 HRVIR instrument and future high-resolution stereo instruments

Fratter, Claude, Reulet, Jean-Francois, Jouan, Jacky, Slater, Philip N.

Year:

1991

Language:

english

File:

PDF, 650 KB

english, 1991

45

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA

Diot, Alan, Hinks-Roberts, Alex, Lodge, Tiffany, Liao, Chunyan, Dombi, Eszter, Morten, Karl, Brady, Stefen, Fratter, Carl, Carver, Janet, Muir, Rebecca, Davis, Ryan, Green, Charlotte J, Johnston, Iain

Journal:

Pharmacological Research

Year:

2015

Language:

english

File:

PDF, 280 KB

english, 2015

46

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene

Hannan, Fadil M, Nesbit, M Andrew, Christie, Paul T, Fratter, Carl, Dudley, Nicholas E, Sadler, Greg P, Thakker, Rajesh V

Journal:

Nature Clinical Practice Endocrinology and Metabolism

Year:

2008

File:

PDF, 204 KB

2008

47

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

Horga, A., Pitceathly, R. D. S., Blake, J. C., Woodward, C. E., Zapater, P., Fratter, C., Mudanohwo, E. E., Plant, G. T., Houlden, H., Sweeney, M. G., Hanna, M. G., Reilly, M. M.

Journal:

Year:

2014

Language:

english

File:

PDF, 743 KB

english, 2014

48

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

49

Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation

Pasmatzi, E., Monastirli, A., Chroni, E., Georgiou, S., Habeos, J., Stefanou, E. G., Fratter, C., Papathanasopoulos, P., Tsambaos, D.

Journal:

Journal of Electron Microscopy

Year:

2015

Language:

english

File:

PDF, 77 KB

english, 2015

50

A Missense Glial Cells Missing Homolog B (GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism

S. M. Mirczuk, M. R. Bowl, M. A. Nesbit, T. Cranston, C. Fratter, J. Allgrove, C. Brain, R. V. Thakker

Year:

2010

Language:

english

File:

PDF, 158 KB

english, 2010