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Quoted phrase not found in phrase index: "Spinal muscular atrophy, facioscapulohumeral type"
Page 1
Epigenetics of neuromuscular disorders.
Coppedè F. Coppedè F. Epigenomics. 2020 Dec;12(23):2125-2139. doi: 10.2217/epi-2020-0282. Epub 2020 Nov 6. Epigenomics. 2020. PMID: 33155830 Review.
The aim of this article is to review the major epigenetic findings in motor neuron diseases and major hereditary muscular dystrophies. DNA methylation changes are observed in both hereditary and sporadic forms, and combining DNA methylation analysis with mutational screeni …
The aim of this article is to review the major epigenetic findings in motor neuron diseases and major hereditary muscular dystrophies …
What we do not know about pregnancy in hereditary neuromuscular disorders.
Argov Z, de Visser M. Argov Z, et al. Neuromuscul Disord. 2009 Oct;19(10):675-9. doi: 10.1016/j.nmd.2009.07.004. Epub 2009 Aug 18. Neuromuscul Disord. 2009. PMID: 19692244 Review.
This review deals with several issues like the effects of such conditions on female fertility (myotonic dystrophy type 1 and mitochondrial disorders), on the risk to the fetus (myotonic dystrophy type 1 and Charcot-Marie-Tooth disease), on the ability to carry pregn …
This review deals with several issues like the effects of such conditions on female fertility (myotonic dystrophy type 1 and mitochon …
Employment profiles in neuromuscular diseases.
Fowler WM Jr, Abresch RT, Koch TR, Brewer ML, Bowden RK, Wanlass RL. Fowler WM Jr, et al. Am J Phys Med Rehabil. 1997 Jan-Feb;76(1):26-37. doi: 10.1097/00002060-199701000-00006. Am J Phys Med Rehabil. 1997. PMID: 9036908
Consumer and rehabilitation provider factors that might limit employment opportunities for 154 individuals with six slowly progressive neuromuscular diseases (NMD) were investigated. The NMDs were spinal muscular atrophy (SMA), hereditary motor sensory neurop …
Consumer and rehabilitation provider factors that might limit employment opportunities for 154 individuals with six slowly progressive neuro …
Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature.
Reimers CD, Schlotter B, Eicke BM, Witt TN. Reimers CD, et al. J Neurol Sci. 1996 Nov;143(1-2):46-56. doi: 10.1016/s0022-510x(96)00037-8. J Neurol Sci. 1996. PMID: 8981297 Review.
A significantly increased portion of both absolute calf hypertrophies and pseudohypertrophies as compared to the control group were found in juvenile proximal spinal muscular atrophy type 3, central core disease, centronuclear myopathy, benign X-linked …
A significantly increased portion of both absolute calf hypertrophies and pseudohypertrophies as compared to the control group were found in …
Value of muscle enzyme measurement in evaluating different neuromuscular diseases.
Zhang Y, Huang JJ, Wang ZQ, Wang N, Wu ZY. Zhang Y, et al. Clin Chim Acta. 2012 Feb 18;413(3-4):520-4. doi: 10.1016/j.cca.2011.11.016. Epub 2011 Nov 25. Clin Chim Acta. 2012. PMID: 22137979
METHODS: We reviewed creatine kinase (CK), lactate dehydrogenase (LDH), aspartate transaminase (AST) levels and CK/lDH in Chinese patients with Duchene/Becker muscular dystrophy (DMD/BMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular …
METHODS: We reviewed creatine kinase (CK), lactate dehydrogenase (LDH), aspartate transaminase (AST) levels and CK/lDH in Chinese patients w …
Evaluation of activities of daily living in patients with slowly progressive neuromuscular diseases.
Bienias K, Ścibek J, Cegielska J, Kochanowski J. Bienias K, et al. Neurol Neurochir Pol. 2018 Mar;52(2):222-227. doi: 10.1016/j.pjnns.2017.10.007. Epub 2017 Oct 27. Neurol Neurochir Pol. 2018. PMID: 29129380
Slowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and limb-girdle muscular dystrophy (LGMD), hereditary motor and sensory neuropathy (HMSN) and spinal muscular atrophy …
Slowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and li …
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy.
Schmitt HP, Härle M, Koelfen W, Nissen KH. Schmitt HP, et al. Brain Dev. 1994 Sep-Oct;16(5):386-92. doi: 10.1016/0387-7604(94)90126-0. Brain Dev. 1994. PMID: 7892958
From muscle and nerve biopsy the diagnosis of a peripheral neuropathy with neurogenic muscular atrophy was made. No mental change occurred. At 23 months she sustained cardiac arrest and was resuscitated; thereafter, she remained in a vegetative state and expired 9 m …
From muscle and nerve biopsy the diagnosis of a peripheral neuropathy with neurogenic muscular atrophy was made. No mental cha …
Depression in Myotonic Dystrophy type 1: clinical and neuronal correlates.
Winblad S, Jensen C, Månsson JE, Samuelsson L, Lindberg C. Winblad S, et al. Behav Brain Funct. 2010 May 19;6:25. doi: 10.1186/1744-9081-6-25. Behav Brain Funct. 2010. PMID: 20482818 Free PMC article.
BACKGROUND: This study was designed to investigate the prevalence and correlates of depression in Myotonic dystrophy type 1 (DM1). METHODS: Thirty-one patients with DM1 and 47 subjects in a clinical contrast group, consisting of other neuromuscular disorders, including …
BACKGROUND: This study was designed to investigate the prevalence and correlates of depression in Myotonic dystrophy type 1 (DM1). ME …
Possible neurogenic factor in muscular dystrophy: its similarity to denervation atrophy.
Dastur DK, Razzak ZA. Dastur DK, et al. J Neurol Neurosurg Psychiatry. 1973 Jun;36(3):399-410. doi: 10.1136/jnnp.36.3.399. J Neurol Neurosurg Psychiatry. 1973. PMID: 4714102 Free PMC article.
There were 72 cases of Duchenne type muscular dystrophy (DMD), five of Becker type MD, four girls with myopathy resembling DMD, 40 with limb-girdle, 10 with facioscapulohumeral, seven with late onset, 13 with congenital, and 28 with unclassifiable m …
There were 72 cases of Duchenne type muscular dystrophy (DMD), five of Becker type MD, four girls with myopathy resembl …
Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients.
Awater C, Zerres K, Rudnik-Schöneborn S. Awater C, et al. Eur J Obstet Gynecol Reprod Biol. 2012 Jun;162(2):153-9. doi: 10.1016/j.ejogrb.2012.02.020. Epub 2012 Mar 28. Eur J Obstet Gynecol Reprod Biol. 2012. PMID: 22459654
STUDY DESIGN: We reviewed the obstetric histories of 178 patients with myotonic dystrophy type 1 (DM1) and 2 (DM2), Charcot-Marie-Tooth disease (CMT), spinal muscular atrophy (SMA), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral …
STUDY DESIGN: We reviewed the obstetric histories of 178 patients with myotonic dystrophy type 1 (DM1) and 2 (DM2), Charcot-Marie-Too …
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