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Year Number of Results
1968 1
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1972 1
1974 1
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1978 6
1979 3
1981 1
1982 1
1984 1
1988 2
1989 2
1990 5
1991 5
1992 7
1993 10
1994 16
1995 22
1996 36
1997 38
1998 25
1999 37
2000 43
2001 46
2002 25
2003 26
2004 33
2005 33
2006 31
2007 26
2008 39
2009 46
2010 44
2011 42
2012 45
2013 35
2014 44
2015 46
2016 44
2017 51
2018 39
2019 45
2020 62
2021 45
2022 48
2023 37
2024 12

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1,116 results

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Page 1
Identification and characterization of a spinal muscular atrophy-determining gene.
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Lefebvre S, et al. Cell. 1995 Jan 13;80(1):155-65. doi: 10.1016/0092-8674(95)90460-3. Cell. 1995. PMID: 7813012 Free article.
Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive paralysis with muscular atrophy. ...The telomeric gene is either lacking or interrup …
Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower mot …
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Chen X, Harting J, Farrow E, Thiffault I, Kasperaviciute D; Genomics England Research Consortium; Hoischen A, Gilissen C, Pastinen T, Eberle MA. Chen X, et al. Am J Hum Genet. 2023 Feb 2;110(2):240-250. doi: 10.1016/j.ajhg.2023.01.001. Epub 2023 Jan 19. Am J Hum Genet. 2023. PMID: 36669496 Free PMC article.
Spinal muscular atrophy, a leading cause of early infant death, is caused by bi-allelic mutations of SMN1. ...We applied Paraphase to 438 samples across 5 ethnic populations to conduct a population-wide haplotype analysis of these highly homologous …
Spinal muscular atrophy, a leading cause of early infant death, is caused by bi-allelic mutations of SMN1. ...We …
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Wirth B. Wirth B. Hum Mutat. 2000;15(3):228-37. doi: 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10679938 Review.
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. ...Among the 23 different subtle mutations describ …
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing p …
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Lorson CL, Hahnen E, Androphy EJ, Wirth B. Lorson CL, et al. Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11. doi: 10.1073/pnas.96.11.6307. Proc Natl Acad Sci U S A. 1999. PMID: 10339583 Free PMC article.
A critical question is why only the homozygous loss of SMN1, and not SMN2, results in spinal muscular atrophy (SMA). Analysis of transcripts from SMN1/SMN2 hybrid genes and a new SMN1 mutation showed a direct relationship between presence of dis …
A critical question is why only the homozygous loss of SMN1, and not SMN2, results in spinal muscular atrophy (SMA). An …
Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA).
Lefebvre S, Sarret C. Lefebvre S, et al. Arch Pediatr. 2020 Dec;27(7S):7S3-7S8. doi: 10.1016/S0929-693X(20)30269-4. Arch Pediatr. 2020. PMID: 33357595 Review.
Autosomal-recessive spinal muscular atrophy (SMA) is characterized by the loss of specific motor neurons of the spinal cord and skeletal muscle atrophy. ...Both genes ubiquitously express SMN protein, but SMN2 generates only low levels of …
Autosomal-recessive spinal muscular atrophy (SMA) is characterized by the loss of specific motor neurons of the spin …
Childhood spinal muscular atrophy.
Younger DS, Mendell JR. Younger DS, et al. Handb Clin Neurol. 2023;196:43-58. doi: 10.1016/B978-0-323-98817-9.00030-2. Handb Clin Neurol. 2023. PMID: 37620083 Review.
Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei …
Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chr …
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy.
Marasco LE, Dujardin G, Sousa-Luís R, Liu YH, Stigliano JN, Nomakuchi T, Proudfoot NJ, Krainer AR, Kornblihtt AR. Marasco LE, et al. Cell. 2022 Jun 9;185(12):2057-2070.e15. doi: 10.1016/j.cell.2022.04.031. Cell. 2022. PMID: 35688133 Free PMC article.
Spinal muscular atrophy (SMA) is a motor-neuron disease caused by mutations of the SMN1 gene. ...
Spinal muscular atrophy (SMA) is a motor-neuron disease caused by mutations of the SMN1 gene. ...
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.
Pereira Â, Tkachenko N, Fortuna AM, Alonso I, Cardoso M, Da Silva JD. Pereira Â, et al. Neurol Sci. 2023 Sep;44(9):3303-3305. doi: 10.1007/s10072-023-06867-w. Epub 2023 May 22. Neurol Sci. 2023. PMID: 37213040
BACKGROUND: Progressive muscular atrophy (PMA) is a rare adult-onset neurological disease that is characterized by isolated lower motor neuron degeneration. While it is still disputable whether PMA is a subtype of amyotrophic lateral sclerosis (ALS) or an iso …
BACKGROUND: Progressive muscular atrophy (PMA) is a rare adult-onset neurological disease that is characterized by isol …
Childhood spinal muscular atrophy: controversies and challenges.
Mercuri E, Bertini E, Iannaccone ST. Mercuri E, et al. Lancet Neurol. 2012 May;11(5):443-52. doi: 10.1016/S1474-4422(12)70061-3. Lancet Neurol. 2012. PMID: 22516079 Review.
Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations of the survival of motor neuron 1 gene SMN1. The severity of spinal muscular …
Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spi …
New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?
Chen TH. Chen TH. Int J Mol Sci. 2020 May 7;21(9):3297. doi: 10.3390/ijms21093297. Int J Mol Sci. 2020. PMID: 32392694 Free PMC article. Review.
Spinal muscular atrophy (SMA) is a congenital neuromuscular disorder characterized by motor neuron loss, resulting in progressive weakness. ...Increasing comprehension of SMA pathophysiology, including the characterization of SMN1 and SMN2 genes …
Spinal muscular atrophy (SMA) is a congenital neuromuscular disorder characterized by motor neuron loss, resulting in …
1,116 results