Manole, Andreea: search on Z-Library

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1

Electrochemical testing of a novel alloy in natural and artificial body fluids

Bunoiu, Ioana, Mindroiu, Mihaela, Manole, Claudiu Constantin, Andrei, Mihai, Nicoara, Adrian, Vasilescu, Ecaterina, Popa, Monica, Didilescu, Andreea Cristiana

Journal:

Annals of Anatomy - Anatomischer Anzeiger

Year:

2018

Language:

english

File:

PDF, 733 KB

english, 2018

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

Next-generation sequencing in neuromuscular diseases

Efthymiou, Stephanie, Manole, Andreea, Houlden, Henry

Journal:

Current Opinion in Neurology

Year:

2016

Language:

english

File:

PDF, 599 KB

english, 2016

5

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

Salpietro, Vincenzo, Zollo, Massimo, Vandrovcova, Jana, Ryten, Mina, Botia, Juan A., Ferrucci, Veronica, Manole, Andreea, Efthymiou, Stephanie, Al Mutairi, Fuad, Bertini, Enrico, Tartaglia, Marco, Hou

Journal:

Year:

2017

Language:

english

File:

PDF, 890 KB

english, 2017

6

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

Salpietro, Vincenzo, Efthymiou, Stephanie, Manole, Andreea, Maurya, Bhawana, Wiethoff, Sarah, Ashokkumar, Balasubramaniem, Cutrupi, Maria Concetta, Dipasquale, Valeria, Manti, Sara, Botia, Juan A., Ry

Journal:

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

7

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases

Udhayabanu, Tamilarasan, Manole, Andreea, Rajeshwari, Mohan, Varalakshmi, Perumal, Houlden, Henry, Ashokkumar, Balasubramaniem

Journal:

Journal of Clinical Medicine

Year:

2017

Language:

english

File:

PDF, 1.56 MB

english, 2017

8

Electrochemical Behavior of Rejected Dental Implants in Peri-Implantitis

Bunoiu, Ioana, Andrei, Mihai, Scheau, Cristian, Manole, Claudiu Constantin, Stoian, Andrei Bogdan, Ibric Cioranu, Vladimir Sorin, Didilescu, Andreea Cristiana

Journal:

Year:

2020

File:

PDF, 4.70 MB

2020

9

SBF1mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

Manole, Andreea, Horga, Alejandro, Gamez, Josep, Raguer, Nuria, Salvado, Maria, San Millán, Beatriz, Navarro, Carmen, Pittmann, Alan, Reilly, Mary M., Houlden, Henry

Journal:

Year:

2017

Language:

english

File:

PDF, 575 KB

english, 2017

10

De novo KCNA2 mutations cause hereditary spastic paraplegia

Manole, Andreea, Männikkö, Roope, Hanna, Michael G., Kullmann, Dimitri M., Houlden, Henry

Journal:

Annals of Neurology

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

11

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Horga, Alejandro, Woodward, Catherine E., Mills, Alberto, Pareés, Isabel, Hargreaves, Iain P., Brown, Ruth M., Bugiardini, Enrico, Brooks, Tony, Manole, Andreea, Remzova, Elena, Rahman, Shamima, Reill

Journal:

Year:

2019

Language:

english

File:

PDF, 894 KB

english, 2019

12

Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232CTRPV4mutation

Koutsis, Georgios, Lynch, David, Manole, Andreea, Karadima, Georgia, Reilly, Mary M., Houlden, Henry, Panas, Marios

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 288 KB

english, 2015

13

Adrenaline induces calcium signal in astrocytes and vasoconstriction via activation of monoamine oxidase

Novikova, Irina N., Manole, Andreea, Zherebtsov, Evgeny A., Stavtsev, Dmitry D., Vukolova, Marina N., Dunaev, Andrey V., Angelova, Plamena R., Abramov, Andrey Y.

Journal:

Free Radical Biology and Medicine

Year:

2020

File:

PDF, 7.47 MB

2020

14

Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis

Udhayabanu, Tamilarasan, Karthi, Sellamuthu, Mahesh, Ayyavu, Varalakshmi, Perumal, Manole, Andreea, Houlden, Henry, Ashokkumar, Balasubramaniem

Journal:

Molecular and Cellular Biochemistry

Year:

2018

Language:

english

File:

PDF, 1.09 MB

english, 2018

15

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)

Desikan, Mahalekshmi, Scalco, Renata Siciliani, Manole, Andreea, Gardiner, Alice R., Schapira, Anthony H., Lachmann, Robin H., Houlden, Henry, Holton, Janice L., Phadke, Rahul, Quinlivan, Ros

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 877 KB

english, 2018

16

A novelKCNA1mutation in a family with episodic ataxia and malignant hyperthermia

Mestre, Tiago A., Manole, Andreea, MacDonald, Heather, Riazi, Sheila, Kraeva, Natalia, Hanna, Michael G., Lang, Anthony E., Männikkö, Roope, Yoon, Grace

Journal:

Year:

2016

Language:

english

File:

PDF, 487 KB

english, 2016

17

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Manole, Andreea, Jaunmuktane, Zane, Hargreaves, Iain, Ludtmann, Marthe H. R., Salpietro, Vincenzo, Bello, Oscar D., Pope, Simon, Pandraud, Amelie, Horga, Alejandro, Scalco, Renata S., Li, Abi, Ashokku

Journal:

Year:

2017

Language:

english

File:

PDF, 1.94 MB

english, 2017

18

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

Salpietro, Vincenzo, Perez-Dueñas, Belen, Nakashima, Kosuke, San Antonio-Arce, Victoria, Manole, Andreea, Efthymiou, Stephanie, Vandrovcova, Jana, Bettencourt, Conceicao, Mencacci, Niccolò E., Klein,

Journal:

Movement Disorders

Year:

2018

Language:

english

File:

PDF, 589 KB

english, 2018

19

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

Salpietro, Vincenzo, Lin, Weichun, Vedove, Andrea Delle, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnaku

Journal:

Annals of Neurology

Year:

2017

Language:

english

File:

PDF, 1.30 MB

english, 2017

20

A Review of Copy Number Variants in Inherited Neuropathies

Salpietro, Vincenzo, Manole, Andreea, Efthymiou, Stephanie, Houlden, Henry

Journal:

Current Genomics

Year:

2018

Language:

english

File:

PDF, 3.15 MB

english, 2018

21

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Kara, Eleanna, Tucci, Arianna, Manzoni, Claudia, Lynch, David S., Elpidorou, Marilena, Bettencourt, Conceicao, Chelban, Viorica, Manole, Andreea, Hamed, Sherifa A., Haridy, Nourelhoda A., Federoff, Mo

Journal:

Year:

2016

Language:

english

File:

PDF, 1.83 MB

english, 2016

22

Severe axonal neuropathy is a late manifestation of SPG11

Manole, Andreea, Chelban, Viorica, Haridy, Nourelhoda A., Hamed, Sherifa A., Berardo, Andrés, Reilly, Mary M., Houlden, Henry

Journal:

Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 3.18 MB

english, 2016

23

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

O’Connor, Emer, Vandrovcova, Jana, Bugiardini, Enrico, Chelban, Viorica, Manole, Andreea, Davagnanam, Indran, Wiethoff, Sarah, Pittman, Alan, Lynch, David S, Efthymiou, Stephanie, Marino, Silvia, Manz

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2018

Language:

english

File:

PDF, 555 KB

english, 2018

24

Recent advances in bulbar syndromes

Manole, Andreea, Fratta, Pietro, Houlden, Henry

Journal:

Current Opinion in Neurology

Year:

2014

Language:

english

File:

PDF, 449 KB

english, 2014

25

Resonance Raman Spectra of Five-Coordinate Heme-Nitrosyl Cytochromes c ′: Effect of the Proximal Heme-NO Environment

Servid, Amy E., McKay, Alison L., Davis, Cherry A., Garton, Elizabeth M., Manole, Andreea, Dobbin, Paul S., Hough, Michael A., Andrew, Colin R.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.67 MB

english, 2015

26

Analysis of the prion protein gene in multiple system atrophy

Chelban, Viorica, Manole, Andreea, Pihlstrøm, Lasse, Schottlaender, Lucia, Efthymiou, Stephanie, OConnor, Emer, Meissner, Wassilios, Holton, Janice L., Houlden, Henry

Journal:

Neurobiology of Aging

Year:

2016

Language:

english

File:

PDF, 698 KB

english, 2016

27

LETM1 couples mitochondrial DNA metabolism and nutrient preference

Durigon, Romina, Mitchell, Alice L, Jones, Aleck WE, Manole, Andreea, Mennuni, Mara, Hirst, Elizabeth MA, Houlden, Henry, Maragni, Giuseppe, Lattante, Serena, Doronzio, Paolo Niccolo’, Dalla Rosa, Ila

Journal:

EMBO Molecular Medicine

Year:

2018

Language:

english

File:

PDF, 5.96 MB

english, 2018

28

Changes in phenolics and protein content during seed germination of Carthamus tinctorius L.

Palade, Laurentiu Mihai, Manole, Carmen, Dobre, Andreea, Marin, Laura, Golea, Diana, Tudora, Catalina

Journal:

Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca Agriculture

Year:

2015

File:

PDF, 595 KB

2015

29

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Manole, Andreea, Efthymiou, Stephanie, OâConnor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harrip

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 2.70 MB

2020

30

Conformational control of the binding of diatomic gases to cytochrome c′

Manole, Andreea, Kekilli, Demet, Svistunenko, Dimitri A., Wilson, Michael T., Dobbin, Paul S., Hough, Michael A.

Journal:

JBIC Journal of Biological Inorganic Chemistry

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

31

Ivemark syndrome-a rare entity with specific anatomical features

Hrusca, Adrian, Rachisan, Andreea Liana, Lucian, Bogdan, Oprita, Simona, Manole, Simona, Cainap, Simona

Journal:

Revista médica de Chile

Year:

2015

Language:

english

File:

PDF, 542 KB

english, 2015

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