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Clarke, Nigel F.
2395  Ergebnisse:
Personensuche X
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1

Dysfunctional sarcomere contractility contributes to muscle..:

Joureau, Barbara ; de Winter, Josine Marieke ; Conijn, Stefan...
Annals of Neurology.  83 (2018)  2 - p. 269-282 , 2018
Link: https://doi.org/10.1002/..
 
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2

Cost-effectiveness of massively parallel sequencing for dia..:

Schofield, Deborah ; Alam, Khurshid ; Douglas, Lyndal...
npj Genomic Medicine.  2 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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3

Prominent scapulae mimicking an inherited myopathy expands ..:

O'Grady, Gina L ; Ma, Alan ; Sival, Deborah...
European Journal of Human Genetics.  24 (2016)  8 - p. 1216-1219 , 2016
Link: https://doi.org/10.1038/..
 
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4

TOR1AIP1 as a cause of cardiac failure and recessive limb-g..:

Ghaoui, Roula ; Benavides, Tatiana ; Lek, Monkol...
Neuromuscular Disorders.  26 (2016)  8 - p. 500-503 , 2016
Link: https://doi.org/10.1016/..
 
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5

Mutation‐specific effects on thin filament length in thin f..:

Winter, Josine M. de ; Joureau, Barbara ; Lee, Eun‐Jeong...
Annals of Neurology.  79 (2016)  6 - p. 959-969 , 2016
Link: https://doi.org/10.1002/..
 
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6

Diagnosis and etiology of congenital muscular dystrophy: We..:

O'Grady, Gina L. ; Lek, Monkol ; Lamande, Shireen R....
Annals of Neurology.  80 (2016)  1 - p. 101-111 , 2016
Link: https://doi.org/10.1002/..
 
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7

Variants inSLC18A3, vesicular acetylcholine transporter, ca..:

O'Grady, Gina L. ; Verschuuren, Corien ; Yuen, Michaela...
Neurology.  87 (2016)  14 - p. 1442-1448 , 2016
Link: https://doi.org/10.1212/..
 
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8

Next generation sequencing in a large cohort of patients pr..:

Todd, Emily J. ; Yau, Kyle S. ; Ong, Royston...
Orphanet Journal of Rare Diseases.  10 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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9

Expanding the phenotype of GMPPB mutations:

Cabrera-Serrano, Macarena ; Ghaoui, Roula ; Ravenscroft, Gianina...
Brain.  138 (2015)  4 - p. 836-844 , 2015
Link: https://doi.org/10.1093/..
 
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10

Mutations inPIGY: expanding the phenotype of inherited glyc..:

Ilkovski, Biljana ; Pagnamenta, Alistair T. ; O'Grady, Gina L....
Human Molecular Genetics.  24 (2015)  21 - p. 6146-6159 , 2015
Link: https://doi.org/10.1093/..
 
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11

Delayed diagnosis of congenital myasthenia due to associate..:

Guo, Yiran ; Menezes, Minal J. ; Menezes, Manoj P....
Neuromuscular Disorders.  25 (2015)  3 - p. 257-261 , 2015
Link: https://doi.org/10.1016/..
 
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12

TPM3 deletions cause a hypercontractile congenital muscle s..:

Donkervoort, Sandra ; Papadaki, Maria ; de Winter, Josine M....
Annals of Neurology.  78 (2015)  6 - p. 982-994 , 2015
Link: https://doi.org/10.1002/..
 
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13

Response:

Menezes, Manoj P. ; Waddell, Leigh ; Lenk, Guy M....
Neuromuscular Disorders.  25 (2015)  4 - p. 360 , 2015
Link: https://doi.org/10.1016/..
 
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14

Reply: The p.Ser107Leu inBICD2is a mutation 'hot spot' caus..:

Rossor, Alexander M. ; Oates, Emily C. ; Salter, Hannah K....
Brain.  138 (2015)  11 - p. e392-e392 , 2015
Link: https://doi.org/10.1093/..
 
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15

Effect of levosimendan on the contractility of muscle fiber..:

de Winter, Josine M ; Joureau, Barbara ; Sequeira, Vasco...
Skeletal Muscle.  5 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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