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Year Number of Results
2008 1
2009 34
2010 318
2011 50
2013 1
2015 1
2026 0

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318 results

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Page 1
TRPV4-mediated channelopathies.
Verma P, Kumar A, Goswami C. Verma P, et al. Channels (Austin). 2010 Jul-Aug;4(4):319-28. doi: 10.4161/chan.4.4.12905. Epub 2010 Jul 6. Channels (Austin). 2010. PMID: 20676052 Free article. Review.
Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in the TRPV4 gene can results in genetic disorders like Brachyolmia, Charcot-Marie-Tooth disease type 2C, Spinal Muscular Atrophy and Here …
Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in the TRPV4 gene c …
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model.
Hua Y, Sahashi K, Hung G, Rigo F, Passini MA, Bennett CF, Krainer AR. Hua Y, et al. Genes Dev. 2010 Aug 1;24(15):1634-44. doi: 10.1101/gad.1941310. Epub 2010 Jul 12. Genes Dev. 2010. PMID: 20624852 Free PMC article.
Increasing survival of motor neuron 2, centromeric (SMN2) exon 7 inclusion to express more full-length SMN protein in motor neurons is a promising approach to treat spinal muscular atrophy (SMA), a genetic neurodegenerative disease. Previously, we identified …
Increasing survival of motor neuron 2, centromeric (SMN2) exon 7 inclusion to express more full-length SMN protein in motor neurons is a pro …
[Catastrophic neuromuscular diseases].
Muñoz Blanco JL. Muñoz Blanco JL. Neurologia. 2010 Oct;25 Suppl 1:37-45. doi: 10.1016/S0213-4853(10)70049-9. Neurologia. 2010. PMID: 21129596 Free article. Review. Spanish.
This situation is more common in ventilated patients with associated muscular weakness, acute neuropathies or motor neuron disease, and 3) inappropriate medical intervention in patients with neuromuscular disease with a definitive diagnosis but longstanding disease (amyotr …
This situation is more common in ventilated patients with associated muscular weakness, acute neuropathies or motor neuron disease, a …
Causes of camptocormia.
Finsterer J, Strobl W. Finsterer J, et al. Disabil Rehabil. 2011;33(17-18):1702-3. doi: 10.3109/09638288.2010.543750. Epub 2010 Dec 23. Disabil Rehabil. 2011. PMID: 21182366 Review.
Other causes include dystonia, multisystem atrophy, Alzheimer's disease, myopathy, motor neuron disease, myasthenia or chronic inflammatory demyelinating polyneuropathy. Rare causes include adverse reactions of drugs, disc herniation, arthritis, spinal trauma, paran …
Other causes include dystonia, multisystem atrophy, Alzheimer's disease, myopathy, motor neuron disease, myasthenia or chronic inflam …
Carrier testing for spinal muscular atrophy.
Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR. Gitlin JM, et al. Genet Med. 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079. Genet Med. 2010. PMID: 20808230 Free PMC article.
Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. ...In this article, the meeting participants summarize the discussions and conclude that pan-ethnic carrier screening for spinal muscular atrophy …
Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. ...In this article, the …
Spinal muscular atrophy: diagnosis, treatment and future prospects.
Baioni MT, Ambiel CR. Baioni MT, et al. J Pediatr (Rio J). 2010 Jul-Aug;86(4):261-70. doi: 10.2223/JPED.1988. J Pediatr (Rio J). 2010. PMID: 20711542 Review. English, Portuguese.
OBJECTIVE: To report on recent genetic and molecular discoveries and on future prospects for the treatment of spinal muscular atrophy (SMA), thereby helping healthcare professionals to make a quick diagnosis and provide appropriate and timely therapeutic supp …
OBJECTIVE: To report on recent genetic and molecular discoveries and on future prospects for the treatment of spinal muscular …
Perspectives of Kennedy's disease.
Finsterer J. Finsterer J. J Neurol Sci. 2010 Nov 15;298(1-2):1-10. doi: 10.1016/j.jns.2010.08.025. Epub 2010 Sep 16. J Neurol Sci. 2010. PMID: 20846673 Review.
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare, adult-onset, X-linked, recessive trinucleotide, polyglutamine (poly-G) disorder, caused by expansion of an unstable CAG-tandem-repeat in exon 1 of the androgen-receptor (AR) gene on chr …
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare, adult-onset, X-linked, recessive trinucleotid …
Spinal muscular atrophy: new and emerging insights from model mice.
Park GH, Kariya S, Monani UR. Park GH, et al. Curr Neurol Neurosci Rep. 2010 Mar;10(2):108-17. doi: 10.1007/s11910-010-0095-5. Curr Neurol Neurosci Rep. 2010. PMID: 20425235 Free PMC article. Review.
Spinal muscular atrophy (SMA) is a common and often fatal neurodegenerative disease that primarily afflicts infants and young children. ...
Spinal muscular atrophy (SMA) is a common and often fatal neurodegenerative disease that primarily afflicts infants and …
Spinal muscular atrophy: a time for screening.
Prior TW. Prior TW. Curr Opin Pediatr. 2010 Dec;22(6):696-702. doi: 10.1097/MOP.0b013e32833f3046. Curr Opin Pediatr. 2010. PMID: 20829691 Review.
PURPOSE OF REVIEW: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. ...
PURPOSE OF REVIEW: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations i …
Hirayama disease.
Tynan J, Frangou E, Voll C, Otani R, Harder S. Tynan J, et al. Can J Neurol Sci. 2010 Sep;37(5):703-5. doi: 10.1017/s0317167100010969. Can J Neurol Sci. 2010. PMID: 21059525 No abstract available.
318 results