Centre de documentació: resultats de cerca

Article
Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
Autor/s:
Ross JP, Leblond CS, Catoire H, Volkening K, Strong M, Zinman L, Robertson J, Dion PA, Rouleau GA
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 2
http://ng.neurology.org/content/5/2/e317.abstract
Article
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
Autor/s:
Findlay AR, Bengoechea R, Pittman SK, Chou TF, True HL, Weihl CC
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 2
http://ng.neurology.org/content/5/2/e318.abstract
Article
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
Autor/s:
Kalasova I, Hanzlikova H, Gupta N, Li Y, Altmüller J, Reynolds JJ, Stewart GS, Wollnik B, Yigit G, Caldecott KW
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 2
http://ng.neurology.org/content/5/2/e320.abstract
Article
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
Autor/s:
Ridder WD, Nelson I, Asselbergh B, Paepe BD, Beuvin M, Yaou BR, Masson C, Boland A, Deleuze JF, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, Töpf A, Straub V, Jonghe PD, Bleecker JLD, Bonne G, Baets J
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 2
http://ng.neurology.org/content/5/2/e321.abstract
Article
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
Autor/s:
Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS,Houlden H, Reilly MR
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 2
http://ng.neurology.org/content/5/2/e322.abstract
Article
Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
Autor/s:
Ng PS, Pinto MV, Neff JL, Hasadsri L, Highsmith EW, Fidler ME, Gavrilova RH, Klein CJ
Clinical/Scientific Notes
Any publicació:
2019
http://ng.neurology.org/content/5/2/e314.extract
Article
Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?
Autor/s:
Nakagama Y, Hamanaka K, Mimaki M, Shintaku H, Miyatake S, Matsumoto N, Hirohata K, Inuzuka R, Oka A
Clinical/Scientific Notes
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 2
http://ng.neurology.org/content/5/2/e319.extract
Article
Antisense oligonucleotides: A primer
Autor/s:
Scoles DR, Minikel EV, Pulst SM
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 2
http://ng.neurology.org/content/5/2/e323.abstract
Vídeo
El benestar i la salut dels professionals de la salut
Autor/s:
Calvo, Antonio; Mitjans, Anna.
Membres del Col·legi Oficial de Metges de Barcelona.
Any publicació:
2019
Article
Effectiveness of Physical Therapy Combined With Epidural Steroid Injection for Individuals With Lumbar Spinal Stenosis: A Randomized Parallel-Group Trial.
Autor/s:
Hammerich A, Whitman J, Mintken P, Denninger T, Akuthota V, Sawyer EE, Hofmann M, Childs JD, Cleland J.
Any publicació:
2019
Número de revista:
Archives of Physical Medicine and Rehabilitation vol. 100 n. 5
https://www.archives-pmr.org/article/S0003-9993(19)30080-2/fulltext

Una iniciativa de:

Cercador

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy

Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)

Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?

Antisense oligonucleotides: A primer

El benestar i la salut dels professionals de la salut

Effectiveness of Physical Therapy Combined With Epidural Steroid Injection for Individuals With Lumbar Spinal Stenosis: A Randomized Parallel-Group Trial.

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