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1

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:

Year:

1996

Language:

english

File:

PDF, 648 KB

english, 1996

2

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:

Year:

1995

Language:

english

File:

PDF, 1.32 MB

english, 1995

3

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:

Year:

2012

Language:

english

File:

PDF, 72 KB

english, 2012

4

Reply

Ghosh, Partha S., Milone, Margherita

Journal:

Year:

2016

Language:

english

File:

PDF, 36 KB

english, 2016

5

Diagnosis and Management of Immune-Mediated Myopathies

Milone, Margherita

Journal:

Mayo Clinic Proceedings

Year:

2017

Language:

english

File:

PDF, 1.42 MB

english, 2017

6

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:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

7

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:

Year:

2014

Language:

english

File:

PDF, 233 KB

english, 2014

8

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

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

Journal:

Year:

2010

Language:

english

File:

PDF, 103 KB

english, 2010

9

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:

Year:

2010

Language:

english

File:

PDF, 179 KB

english, 2010

10

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

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

Journal:

Year:

2009

Language:

english

File:

PDF, 396 KB

english, 2009

11

Myotonia associated with caveolin-3 mutation

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

Journal:

Year:

2012

Language:

english

File:

PDF, 1.41 MB

english, 2012

12

Untangling the Complexity of Limb-girdle Muscular Dystrophies

Liewluck, Teerin, Milone, Margherita

Journal:

Year:

2018

Language:

english

File:

PDF, 1.34 MB

english, 2018

13

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

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

Journal:

Year:

2009

Language:

english

File:

PDF, 120 KB

english, 2009

14

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:

Year:

2014

Language:

english

File:

PDF, 144 KB

english, 2014

15

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

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

Journal:

Year:

2017

Language:

english

File:

PDF, 1.19 MB

english, 2017

16

Exercise intolerance due to cytochrome b mutation

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

Journal:

Year:

2010

Language:

english

File:

PDF, 250 KB

english, 2010

17

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

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

Journal:

Year:

1994

Language:

english

File:

PDF, 544 KB

english, 1994

18

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:

Year:

2016

Language:

english

File:

PDF, 287 KB

english, 2016

19

Reply to: Myotonic disorder without myotonia?

Margherita Milone, Jasper R. Daube

Journal:

Year:

2009

Language:

english

File:

PDF, 36 KB

english, 2009

20

Focal and other unusual presentations of facioscapulohumeral muscular dystrophy

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

Journal:

Year:

2012

Language:

english

File:

PDF, 85 KB

english, 2012

21

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:

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

22

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:

Year:

2016

Language:

english

File:

PDF, 274 KB

english, 2016

23

Camptocormia as presenting manifestation of a spectrum of myopathic disorders

Ghosh, Partha S., Milone, Margherita

Journal:

Year:

2015

Language:

english

File:

PDF, 78 KB

english, 2015

24

DNAJB6 myopathy: A vacuolar myopathy with childhood onset

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

Journal:

Year:

2014

Language:

english

File:

PDF, 230 KB

english, 2014

25

Rhabdomyolysis and Fluctuating Asymptomatic HyperCKemia Associated with CACNA1S Variant

Anandan, Charenya, Cipriani, Mark A, Laughlin, Ruple S, Niu, Zhiyv, Milone, Margherita

Journal:

European Journal of Neurology

Year:

2017

Language:

english

File:

PDF, 3.30 MB

english, 2017

26

Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome

Pinto, Marcus V., Saw, Jacqui-Lyn, Milone, Margherita

Journal:

Frontiers in Neurology

Year:

2019

File:

PDF, 354 KB

2019

27

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 208 KB

english, 2012

28

Coexistence ofDMPKgene expansion andCLCN1missense mutation in the same patient

Kassardjian, Charles D., Milone, Margherita

Journal:

Year:

2014

Language:

english

File:

PDF, 88 KB

english, 2014

29

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

Engel, Andrew G., Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Harper, C. Michel

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 631 KB

english, 2016

30

A NON-CARDIAC CAUSE OF ORTHOPNEA

Vaidya, Vaibhav, Dhawan, Priya, Wilson, Michael, Milone, Margherita, Lopez-Jimenez, Francisco

Journal:

Journal of the American College of Cardiology

Year:

2017

Language:

english

File:

PDF, 350 KB

english, 2017

31

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:

Year:

1996

Language:

english

File:

PDF, 1.16 MB

english, 1996

32

Orthostatic Tremor, Progressive External Ophthalmoplegia, and Twinkle

Milone, Margherita, Klassen, Bryan T., Landsverk, Megan L., Haas, Richard H., Wong, Lee-Jun

Journal:

Year:

2013

Language:

english

File:

PDF, 317 KB

english, 2013

33

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants

Brand, Patricio, Dyck, P. James B., Liu, Jie, Berini, Sarah, Selcen, Duygu, Milone, Margherita

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 686 KB

english, 2016

34

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

Year:

2008

Language:

english

File:

PDF, 632 KB

english, 2008

35

RYR1 causing distal myopathy

Laughlin, Ruple S., Niu, Zhiyv, Wieben, Eric, Milone, Margherita

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

36

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

Year:

2002

Language:

english

File:

PDF, 969 KB

english, 2002

37

Congenital myasthenic syndromes in adult neurology clinic

Kao, Justin C., Milone, Margherita, Selcen, Duygu, Shen, Xin-Ming, Engel, Andrew G., Liewluck, Teerin

Journal:

Year:

2018

Language:

english

File:

PDF, 317 KB

english, 2018

38

Muscle Biopsy and Electromyography Correlation

Naddaf, Elie, Milone, Margherita, Mauermann, Michelle L., Mandrekar, Jayawant, Litchy, William J.

Journal:

Frontiers in Neurology

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

39

Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy

Kazamel, Mohamed, Milone, Margherita

Journal:

Journal of Clinical Neuroscience

Year:

2019

Language:

english

File:

PDF, 802 KB

english, 2019

40

Myopathies with finger flexor weakness: Not only inclusionâbody myositis

Nicolau, Stefan, Liewluck, Teerin, Milone, Margherita

Journal:

Year:

2020

File:

PDF, 2.33 MB

2020

41

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:

Year:

2008

Language:

english

File:

PDF, 569 KB

english, 2008

42

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

Year:

2011

Language:

english

File:

PDF, 1.50 MB

english, 2011

43

Autoimmune Aquaporin-4 Myopathy in Neuromyelitis Optica Spectrum

Guo, Yong, Lennon, Vanda A., Popescu, Bogdan F. Gh., Grouse, Carrie Katherine, Topel, Jordan, Milone, Margherita, Lassmann, Hans, Parisi, Joseph E., Pittock, Sean J., Stefoski, Dusan, Balabanov, Roume

Journal:

Year:

2014

Language:

english

File:

PDF, 247 KB

english, 2014

44

An adult with a rare form of congenital fiber type disproportion

Anandan, Charenya, Milone, Margherita

Journal:

Year:

2017

Language:

english

File:

PDF, 828 KB

english, 2017

45

The Unfolding Spectrum of Inherited Distal Myopathies

Milone, Margherita, Liewluck, Teerin

Journal:

Year:

2018

Language:

english

File:

PDF, 1.52 MB

english, 2018

46

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit

Milone, Margherita, Wang, Hai-Long, Ohno, Kinji, Fukudome, Takayasu, Pruitt, J. Ned, Bren, Nina, Sine, Steven M., Engel, Andrew G.

Journal:

Journal of Neuroscience

Year:

1997

Language:

english

File:

PDF, 950 KB

english, 1997

47

Sporadic late-onset nemaline myopathy

Naddaf, Elie, Milone, Margherita, Kansagra, Ankit, Buadi, Francis, Kourelis, Taxiarchis

Journal:

Year:

2019

Language:

english

File:

PDF, 273 KB

english, 2019

48

Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

Shen, Xin‐Ming, Milone, Margherita, Wang, Hang‐Long, Banwell, Brenda, Selcen, Duygu, Sine, Steven M., Engel, Andrew G.

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

Language:

english

File:

PDF, 2.10 MB

english, 2019

49

Rhabdomyolysis featuring muscular dystrophies

Lahoria, Rajat, Milone, Margherita

Journal:

Journal of the Neurological Sciences

Year:

2016

Language:

english

File:

PDF, 413 KB

english, 2016

50

A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy

Nicolau, Stefan, Liewluck, Teerin, Elliott, Jeffrey L, Engel, Andrew G, Milone, Margherita

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 1.12 MB

2020

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