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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group. Mercuri E, et al. Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29290580 Free article. Review.
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. ...In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and …
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) …
RNA-Targeted Therapeutics.
Crooke ST, Witztum JL, Bennett CF, Baker BF. Crooke ST, et al. Cell Metab. 2018 Apr 3;27(4):714-739. doi: 10.1016/j.cmet.2018.03.004. Cell Metab. 2018. PMID: 29617640 Free article. Review.
Today, four RNA-targeted therapies are approved for commercial use for indications as diverse as Spinal Muscular Atrophy (SMA) and reduction of low-density lipoprotein cholesterol (LDL-C) and by routes of administration including subcutaneous, intravitreal, a …
Today, four RNA-targeted therapies are approved for commercial use for indications as diverse as Spinal Muscular Atrophy …
Spinal muscular atrophy.
Arnold ES, Fischbeck KH. Arnold ES, et al. Handb Clin Neurol. 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. Handb Clin Neurol. 2018. PMID: 29478602 Review.
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. ...
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of th …
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R. Mary P, et al. Orthop Traumatol Surg Res. 2018 Feb;104(1S):S89-S95. doi: 10.1016/j.otsr.2017.04.019. Epub 2017 Nov 28. Orthop Traumatol Surg Res. 2018. PMID: 29196274 Free article. Review.
The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), peripheral neuropathies (chiefly, Charcot-Marie-Tooth disease), congenital muscular dystrophies, progressive muscular dystrophies, …
The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), perip …
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group. Finkel RS, et al. Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29305137 Free article.
This is the second half of a two-part document updating the standard of care recommendations for spinal muscular atrophy published in 2007. This part includes updated recommendations on pulmonary management and acute care issues, and topics that have emerged …
This is the second half of a two-part document updating the standard of care recommendations for spinal muscular atrophy …
Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease.
Breza M, Koutsis G. Breza M, et al. J Neurol. 2019 Mar;266(3):565-573. doi: 10.1007/s00415-018-8968-7. Epub 2018 Jul 13. J Neurol. 2019. PMID: 30006721 Review.
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked hereditary lower motor neuron disease, characterized by progressive muscular weakness. ...
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked hereditary lower motor …
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Rusmini P, Cortese K, Crippa V, Cristofani R, Cicardi ME, Ferrari V, Vezzoli G, Tedesco B, Meroni M, Messi E, Piccolella M, Galbiati M, Garrè M, Morelli E, Vaccari T, Poletti A. Rusmini P, et al. Autophagy. 2019 Apr;15(4):631-651. doi: 10.1080/15548627.2018.1535292. Epub 2018 Nov 5. Autophagy. 2019. PMID: 30335591 Free PMC article.
Abbreviations: ALS: amyotrophic lateral sclerosis; AR: androgen receptor; ATG: autophagy related; AV: autophagic vacuole; BAG3: BCL2-associated athanogene 3; BECN1: beclin 1, autophagy related; CASA: chaperone-assisted selective autophagy; CTSB: cathepsin b; DAPI: 4',6-diamidino- …
Abbreviations: ALS: amyotrophic lateral sclerosis; AR: androgen receptor; ATG: autophagy related; AV: autophagic vacuole; BAG3: BCL2-associa …
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Mercuri E, et al. N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504. N Engl J Med. 2018. PMID: 29443664 Free article. Clinical Trial.
BACKGROUND: Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA). METHODS: We conducted a multicenter, d …
BACKGROUND: Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) …
Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps.
Gidaro T, Servais L. Gidaro T, et al. Dev Med Child Neurol. 2019 Jan;61(1):19-24. doi: 10.1111/dmcn.14027. Epub 2018 Sep 17. Dev Med Child Neurol. 2019. PMID: 30221755 Free article. Review.
Spinal muscular atrophy (SMA) is a recessive disorder caused by a mutation in the survival motor neuron 1 gene (SMN1); it affects 1 in 11 000 newborn infants. ...Different knowledge gaps, such as results in older patients, in patients with permanent ventilati …
Spinal muscular atrophy (SMA) is a recessive disorder caused by a mutation in the survival motor neuron 1 gene (SMN1); …
Human Cardiac Gene Therapy.
Ishikawa K, Weber T, Hajjar RJ. Ishikawa K, et al. Circ Res. 2018 Aug 17;123(5):601-613. doi: 10.1161/CIRCRESAHA.118.311587. Circ Res. 2018. PMID: 30355138 Free PMC article. Review.
Effective treatments of Leber congenital amaurosis, hemophilia, and spinal muscular atrophy have been largely based on the efficiency and safety of adeno-associated vectors. ...
Effective treatments of Leber congenital amaurosis, hemophilia, and spinal muscular atrophy have been largely based on …
528 results