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1

Combined low-rate nerve stimulation and maximal voluntary contraction in the detection of compound muscle action potential facilitation in Lambert-Eaton myasthenic syndrome

Mauro LoMonaco, Margherita Milone, Luca Padua, Pietro Tonali

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 76 KB

english, 1997

2

Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia

Margherita Milone, Sat D. Batish, Jasper R. Daube

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 120 KB

english, 2009

3

Reply to: Myotonic disorder without myotonia?

Margherita Milone, Jasper R. Daube

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 36 KB

english, 2009

4

Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy

Margherita Milone, Amiram Katz, Anthony A. Amato, Carl A. Soderland, Miruna Segarceanu, Nathan P. Young, H. Royden Jones

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 179 KB

english, 2010

5

Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2

Nathan P. Young, Jasper R. Daube, Eric J. Sorenson, Margherita Milone

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 103 KB

english, 2010

6

Exercise intolerance due to cytochrome b mutation

Rami Massie, Lee-Jun C. Wong, Margherita Milone

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 250 KB

english, 2010

7

Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate

Margherita Milone, David O. Hutchinson, Andrew G. Engel

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 544 KB

english, 1994

8

Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis

Mauro Lomonaco, Margherita Milone, Enza Maria Valente, Luca Padua, Pietro Tonali

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 648 KB

english, 1996

9

Myotonia associated with caveolin-3 mutation

Margherita Milone, Kathleen M. Mcevoy, Eric J. Sorenson, Jasper R. Daube

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.41 MB

english, 2012

10

Focal and other unusual presentations of facioscapulohumeral muscular dystrophy

Anhar Hassan, Lyell K Jones, Margherita Milone, Neeraj Kumar

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 85 KB

english, 2012

11

Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

Steven M. Sine, Kinji Ohno, Cecilia Bouzat, Anthony Auerbach, Margherita Milone, Jerry N. Pruitt, Andrew G. Engel

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 1.32 MB

english, 1995

12

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

Margherita Milone, Brian R. Younge, Jing Wang, Shulin Zhang, Lee-Jun Wong

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 396 KB

english, 2009

13

The molecular etiology of Progressive External Ophthalmoplegia (PEO) associated with mitochondrial myopathy

Sha Tang, Yu-Wen Huang, Margherita Milone, Xia Tian, Hong Cui, Victor Wei Zhang, Jing Wang, Lee-Jun C. Wong

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 72 KB

english, 2012

14

Analysis of mtDNA multiple deletions in 209 muscle specimens using massively parallel sequencing (MPS)

Li, Fang-Yuan, Tian, Xia, Milone, Margherita, Cui, Hong, Zhang, Victor Wei, Wong, Lee-Jun

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 46 KB

english, 2013

15

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

Lahoria, Rajat, Winder, Thomas L., Lui, Jie, Al-Owain, Mohammed A., Milone, Margherita

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 144 KB

english, 2014

16

A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers

Liewluck, Teerin, Milone, Margherita, Mauermann, Michelle L., Castro-Couch, Melissa, Cerhan, Jane H., Murthy, Naveen S.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 233 KB

english, 2014

17

DNAJB6 myopathy: A vacuolar myopathy with childhood onset

Suarez-Cedeno, Gerson, Winder, Thomas, Milone, Margherita

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 230 KB

english, 2014

18

Clinical spectrum of valosin containing protein ( VCP )-opathy

Kazamel, Mohamed, Sorenson, Eric J., McEvoy, Kathleen M., Jones, Lyell K., Leep-Hunderfund, Andrea N., Mauermann, Michelle L., Milone, Margherita

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 274 KB

english, 2016

19

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations

Liewluck, Teerin, Milone, Margherita, Tian, Xia, Engel, Andrew G., Staff, Nathan P., Wong, Lee-Jun

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 287 KB

english, 2016

20

Camptocormia as presenting manifestation of a spectrum of myopathic disorders

Ghosh, Partha S., Milone, Margherita

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 78 KB

english, 2015

21

Reply

Ghosh, Partha S., Milone, Margherita

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 36 KB

english, 2016

22

Diagnosis and Management of Immune-Mediated Myopathies

Milone, Margherita

Journal:

Mayo Clinic Proceedings

Année:

2017

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2017

23

Myofibrillar myopathy due to dominant LMNA mutations: A report of two cases

Dhawan, Priya S., Liewluck, Teerin, Knapik, Joseph, Milone, Margherita

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2017

24

Untangling the Complexity of Limb-girdle Muscular Dystrophies

Liewluck, Teerin, Milone, Margherita

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2018

25

The spectrum of mutations causing end-plate acetylcholinesterase deficiency

Kinji Ohno, Andrew G. Engel, Joan M. Brengman, Xin-Ming Shen, Fedor Heidenreich, Angela Vincent, Margherita Milone, Ersin Tan, Mehmet Demirci, Peter Walsh, Satoshi Nakano, Ichiro Akiguchi

Journal:

Annals of Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2000

26

Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

Duygu Selcen, Margherita Milone, Xin-Ming Shen, C. Michel Harper, Anthony A. Stans, Eric D. Wieben, Andrew G. Engel

Journal:

Annals of Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 2.72 MB

english, 2008

27

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

Lee-Jun C. Wong, Robert K. Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S. Schmitt, Cavatina Truong, Margherita Milone, Bruce H. Cohen, Beverly Wical, Jaya Ganesh, Alice A. Basinger, Barbara K. B

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 569 KB

english, 2008

28

Cisplatin neuropathy: clinical course and neurophysiological findings

Mauro LoMonaco, Margherita Milone, Anna Paola Batocchi, Luca Padua, Domenico Restuccia, Pietro Tonali

Journal:

Journal of Neurology

Année:

1992

Langue:

english

Fichier:

PDF, 615 KB

english, 1992

29

The muscle protein dysferlin accumulates in the Alzheimer brain

James E. Galvin, Divya Palamand, Jeff Strider, Margherita Milone, Alan Pestronk

Journal:

Acta Neuropathologica

Année:

2006

Langue:

english

Fichier:

PDF, 465 KB

english, 2006

30

Anesthesia and myotonic dystrophy type 2: a case series

Toby N. Weingarten, Ryan E. Hofer, Margherita Milone, Juraj Sprung

Journal:

Canadian Journal of Anesthesia/Journal canadien d'anesthésie

Année:

2010

Langue:

english

Fichier:

PDF, 176 KB

english, 2010

31

Congenital Myasthenic Syndrome Caused by Novel Loss-of-Function Mutations in the Human AChR ɛ Subunit Gene

MARGHERITA MILONE, KINJI OHNO, TAKAYASU FUKUDOME, XIN-MING SHEN, ROBERT C. GRIGGS, ANDREW G. ENGEL

Journal:

Annals of the New York Academy of Sciences

Année:

1998

Langue:

english

Fichier:

PDF, 394 KB

english, 1998

32

Congenital Myasthenic Syndromes: New Insights from Molecular Genetic and Patch-Clamp Studies

ANDREW G. ENGEL, KINJI OHNO, MARGHERITA MILONE, STEVEN M. SINE

Journal:

Annals of the New York Academy of Sciences

Année:

1998

Langue:

english

Fichier:

PDF, 950 KB

english, 1998

33

10.1038/6326

Sine, Steven M., Wang, Hai-Long, Milone, Margherita, Ohno, Kinji, Shen, Xing-Ming, Tsujino, Akira, Batocchi, Anna Paola, Tonali, Pietro, Brengman, Joan, Engel, Andrew G.

Journal:

Nature Neuroscience

Année:

1999

Langue:

english

Fichier:

PDF, 891 KB

english, 1999

34

10.1038/8161

Wang, Hai-Long, Milone, Margherita, Ohno, Kinji, Shen, Xing-Ming, Tsujino, Akira, Batocchi, Anna Paola, Tonali, Pietro, Brengman, Joan, Engel, Andrew G., Sine, Steven M.

Journal:

Nature Neuroscience

Année:

1999

Langue:

english

Fichier:

PDF, 737 KB

english, 1999

35

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum ofPOLG1mutations

Tang, Sha, Dimberg, Elliot L., Milone, Margherita, Wong, Lee-Jun C.

Journal:

Journal of Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 263 KB

english, 2012

36

Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission

Jörn P. Sieb, Margherita Milone, Andrew G. Engel

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 917 KB

english, 1996

37

Block of the endplate acetylcholine receptor channel by the sympathomimetic agents ephedrine, pseudoephedrine, and albuterol

Margherita Milone, Andrew G. Engel

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 481 KB

english, 1996

38

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

Margherita Milone, Nicola Brunetti-Pierri, Lin-Ya Tang, Neeraj Kumar, Michelle M. Mezei, Keith Josephs, Suzanne Powell, Ericka Simpson, Lee-Jun C. Wong

Journal:

Neuromuscular Disorders

Année:

2008

Langue:

english

Fichier:

PDF, 632 KB

english, 2008

39

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia

Teerin Liewluck, Xin-Ming Shen, Margherita Milone, Andrew G. Engel

Journal:

Neuromuscular Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2011

40

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

Margherita Milone, Teerin Liewluck, Thomas L. Winder, Paolo T. Pianosi

Journal:

Neuromuscular Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 208 KB

english, 2012

41

Acquired progressive ataxia and palatal tremor: Importance of MRI evidence of hemosiderin deposition and vascular malformations

Neeraj Kumar, Scott D.Z. Eggers, Margherita Milone, B. Mark Keegan

Journal:

Parkinsonism & Related Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 588 KB

english, 2011

42

O1-01-01 Dysferlin in the Alzheimer's disease brain: another amyloid

James E. Galvin, Divya Palamand, Margherita Milone, Alan Pestronk

Journal:

Neurobiology of Aging

Année:

2004

Langue:

english

Fichier:

PDF, 162 KB

english, 2004

43

Congenital Myasthenic Syndrome Caused by Decreased Agonist Binding Affinity Due to a Mutation in the Acetylcholine Receptor ε Subunit

Kinji Ohno, Hai-Long Wang, Margherita Milone, Nina Bren, Joan M Brengman, Satoshi Nakano, Polly Quiram, Jerry N Pruitt, Steven M Sine, Andrew G Engel

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 1.16 MB

english, 1996

44

Mode Switching Kinetics Produced by a Naturally Occurring Mutation in the Cytoplasmic Loop of the Human Acetylcholine Receptor ε Subunit

Margherita Milone, Hai-Long Wang, Kinji Ohno, Richard Prince, Takayasu Fukudome, Xin-Ming Shen, Joan M. Brengman, Robert C. Griggs, Steven M. Sine, Andrew G. Engel

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 898 KB

english, 1998

45

Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

Kinji Ohno, Andrew G. Engel, Xin-Ming Shen, Duygu Selcen, Joan Brengman, C. Michel Harper, Akira Tsujino, Margherita Milone

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 969 KB

english, 2002

46

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Cui, Hong, Li, Fangyuan, Chen, David, Wang, Guoli, Truong, Cavatina K., Enns, Gregory M., Graham, Brett, Milone, Margherita, Landsverk, Megan L., Wang, Jing, Zhang, Wei, Wong, Lee-Jun C.

Journal:

Genetics in Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2013

47

Diseased Skeletal Muscle: A Noncardiac Source of Increased Circulating Concentrations of Cardiac Troponin T

Allan S. Jaffe, Vlad C. Vasile, Margherita Milone, Amy K. Saenger, Kalen N. Olson, Fred S. Apple

Journal:

Journal of the American College of Cardiology

Année:

2011

Langue:

english

Fichier:

PDF, 661 KB

english, 2011

48

Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene

Rami Massie, Jing Wang, Li-Chieh Chen, Victor W. Zhang, Michael P. Collins, Lee-Jun C. Wong, Margherita Milone

Journal:

Journal of the Neurological Sciences

Année:

2012

Langue:

english

Fichier:

PDF, 931 KB

english, 2012

49

Poster 233: Inclusion Body Myositis: Assessment of Weakness Patterns Using Quantitative Muscle Testing

Terry H. Oh, Jeffrey R. Basford, Kathie A. Bernhardt, Kenton R. Kaufman, Margherita Milone, Steven R. Ytterberg

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 50 KB

english, 2010

50

Diagnosis of mitochondrial myopathies

Milone, Margherita, Wong, Lee-Jun

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 581 KB

english, 2013