Publicacions científiques

Article

Novel and known morbidities of leukodystrophies identified using a phenome-wide association study

Autor/s:

Bonkowsky JL, Wilkes J, Ying J, Wei WQ

Any publicació:

2020

Número de revista:

Neurology® Clinical Practice vol. 10 n. 5

https://cp.neurology.org/content/10/5/406

Article

Novel approaches to quantify CNS involvement in children with Pompe disease.

Autor/s:

Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS.

Any publicació:

2020

Número de revista:

Neurology vol. 95 n. 6

https://n.neurology.org/content/95/6/e718

Article

Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability

Autor/s:

Balicza P, Bencsik R, Lengyel A, Gal A, Grosz Z, Csaban D, Rudas G, Danics K, Kovacs GG, Molnar MJ

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 5

https://ng.neurology.org/content/6/5/e515

Article de revisió

Novel Effect Size Interpretation Guidelines and an Evaluation of Statistical Power in Rehabilitation Research.

Autor/s:

Kinney AR, Eakman AM, Graham JE.

Systematic Reviews

Any publicació:

2020

Número de revista:

Archives of Physical Medicine and Rehabilitation. vol. 101 n. 12

https://www.archives-pmr.org/article/S0003-9993(20)30172-6/fulltext

Article

Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism.

Autor/s:

Blanco-Cantó ME, Patel N, Velasco-Aviles S, Casillas-Bajo A, Salas-Felipe J, García-Escrivá A, Díaz-Marín C, Cabedo H.

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 2

https://ng.neurology.org/content/6/2/e407

Article

Novel insights into stroke pain beliefs and perceptions.

Autor/s:

Haslam BS, Butler DS, Carey LM.

Any publicació:

2020

Número de revista:

Topics in Stroke Rehabilitation vol. 27 n. 5

https://www.tandfonline.com/doi/full/10.1080/10749357.2019.1701177

Article

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.

Autor/s:

Mihaylova V, Chablais F, Herenger Y, Spiegel R, Heinrich Jung H.

Clinical/Scientific Notes

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 4

https://ng.neurology.org/content/6/4/e458

Article

Nucleic acid oxidation is associated with biomarkers of neurodegeneration in CSF in people with HIV.

Autor/s:

Ellis RJ, Moore DJ, Sundermann EE, Heaton RK, Mehta S, Hulgan T, Samuels D, Fields JA, Letendre SL.

Any publicació:

2020

Número de revista:

Neurology Neuroimmunology & Neuroinflammation vol. 7 n. 6

https://nn.neurology.org/content/7/6/e902

Article

Nusinersen in adult patients with spinal muscular atrophy: Observations from a single center.

Autor/s:

Moshe-Lilie O, Visser A, Chahin N, Ragole T, Dimitrova D, Karam C.

Any publicació:

2020

Número de revista:

Neurology vol. 95 n. 4

https://n.neurology.org/content/95/4/e413

Editorial

Nusinersen in SMA 2 and 3: Risks vs benefits.

Autor/s:

Deymeer F.

Editorial

Any publicació:

2020

Número de revista:

Neurology vol. 95 n. 4

https://n.neurology.org/content/95/4/151

Una iniciativa de:

Cercador

Novel and known morbidities of leukodystrophies identified using a phenome-wide association study

Novel approaches to quantify CNS involvement in children with Pompe disease.

Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability

Novel Effect Size Interpretation Guidelines and an Evaluation of Statistical Power in Rehabilitation Research.

Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism.

Novel insights into stroke pain beliefs and perceptions.

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.

Nucleic acid oxidation is associated with biomarkers of neurodegeneration in CSF in people with HIV.

Nusinersen in adult patients with spinal muscular atrophy: Observations from a single center.

Nusinersen in SMA 2 and 3: Risks vs benefits.

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