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Spinal muscular atrophy.
D'Amico A, Mercuri E, Tiziano FD, Bertini E. D'Amico A, et al. Orphanet J Rare Dis. 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71. Orphanet J Rare Dis. 2011. PMID: 22047105 Free PMC article. Review.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. ...This disease is characterized by …
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha mo …
Emerging therapies and challenges in spinal muscular atrophy.
Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, Swoboda KJ, Kiernan MC. Farrar MA, et al. Ann Neurol. 2017 Mar;81(3):355-368. doi: 10.1002/ana.24864. Epub 2017 Feb 17. Ann Neurol. 2017. PMID: 28026041 Free PMC article. Review.
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (type I) to limited motor neuron loss and normal life expectancy (type IV). ...
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantil …
Spinal muscular atrophy--clinical and genetic correlations.
Zerres K, Wirth B, Rudnik-Schöneborn S. Zerres K, et al. Neuromuscul Disord. 1997 May;7(3):202-7. doi: 10.1016/s0960-8966(97)00459-8. Neuromuscul Disord. 1997. PMID: 9185186 Review.
A clinical and molecular genetic study of nearly 500 patients with proximal spinal muscular atrophy (SMA) was undertaken. On the basis of defined achieved milestones, survival probabilities in type I (never able to sit), type II (able to sit but …
A clinical and molecular genetic study of nearly 500 patients with proximal spinal muscular atrophy (SMA) was undertake …
Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs.
Brandt M, Johannsen L, Inhestern L, Bergelt C. Brandt M, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):274. doi: 10.1186/s13023-022-02407-5. Orphanet J Rare Dis. 2022. PMID: 35854387 Free PMC article. Review.
BACKGROUND: Spinal muscular atrophy (SMA) is a rare degenerative neuromuscular disease, mostly occurring in infants and children, leading to muscle wasting and weakness, and premature death. ...METHODS: A systematic literature review was performed including q …
BACKGROUND: Spinal muscular atrophy (SMA) is a rare degenerative neuromuscular disease, mostly occurring in infants and …
Solving the puzzle of spinal muscular atrophy: what are the missing pieces?
Tiziano FD, Melki J, Simard LR. Tiziano FD, et al. Am J Med Genet A. 2013 Nov;161A(11):2836-45. doi: 10.1002/ajmg.a.36251. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124019 Review.
Spinal muscular atrophy (SMA) is an autosomal recessive, lower motor neuron disease. Clinical heterogeneity is pervasive: three infantile (type I-III) and one adult-onset (type IV) forms are recognized. Type I SMA is the most commo …
Spinal muscular atrophy (SMA) is an autosomal recessive, lower motor neuron disease. Clinical heterogeneity is pervasiv …
Neurofilament Proteins as Prognostic Biomarkers in Neurological Disorders.
Lee Y, Lee BH, Yip W, Chou P, Yip BS. Lee Y, et al. Curr Pharm Des. 2020;25(43):4560-4569. doi: 10.2174/1381612825666191210154535. Curr Pharm Des. 2020. PMID: 31820696 Review.
Neurofilaments: light, medium, and heavy (abbreviated as NF-L, NF-M, and NF-H, respectively), which belong to Type IV intermediate filament family (IF), are neuron-specific cytoskeletal components. ...Abnormal assembly of neurofilaments is found in several human neu …
Neurofilaments: light, medium, and heavy (abbreviated as NF-L, NF-M, and NF-H, respectively), which belong to Type IV intermed …
Molecular basis of androgen insensitivity.
Brinkmann AO. Brinkmann AO. Mol Cell Endocrinol. 2001 Jun 20;179(1-2):105-9. doi: 10.1016/s0303-7207(01)00466-x. Mol Cell Endocrinol. 2001. PMID: 11420135 Review.
The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS) and is distinct from other forms of male pseudohermaphroditism like 17 beta-hydroxy-steroid dehydrogenase type 3 deficiency, leydig cell hypoplasia due to inactivating LH rec …
The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS) and is distinct from other forms of male …
Amyotrophic lateral sclerosis and other motor neuron diseases.
Krivickas LS. Krivickas LS. Phys Med Rehabil Clin N Am. 2003 May;14(2):327-45. doi: 10.1016/s1047-9651(02)00119-5. Phys Med Rehabil Clin N Am. 2003. PMID: 12795519 Review.
These disorders include SMA types I to III in children and familial and sporadic ALS and its variants (PMA, PLS, and PBP), Kennedy's disease, and SMA type IV in adults. The electrodiagnostic study is a crucial step in the diagnostic process for all of these disorder …
These disorders include SMA types I to III in children and familial and sporadic ALS and its variants (PMA, PLS, and PBP), Kennedy's disease …