Bagga P, Singh S, Ram G, Kapil S, Singh A
Front Neurol. 2024; 15:1368658.
PMID: 38854961
PMC: 11157111.
DOI: 10.3389/fneur.2024.1368658.
Mathis S, Beauvais D, Duval F, Sole G, Le Masson G
J Neurol. 2024; 271(7):3978-3990.
PMID: 38816479
DOI: 10.1007/s00415-024-12462-6.
Jha N, Kim J, Her Y, Monani U
JCI Insight. 2023; 8(18).
PMID: 37737261
PMC: 10561723.
DOI: 10.1172/jci.insight.171878.
Nishio H, Niba E, Saito T, Okamoto K, Takeshima Y, Awano H
Int J Mol Sci. 2023; 24(15).
PMID: 37569314
PMC: 10418635.
DOI: 10.3390/ijms241511939.
Sun J, Harrington M, Porter B
J Neuromuscul Dis. 2023; 10(5):847-867.
PMID: 37393514
PMC: 10578261.
DOI: 10.3233/JND-230011.
Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders.
Jablonka S, Hennlein L, Sendtner M
Neurol Res Pract. 2022; 4(1):2.
PMID: 34983696
PMC: 8725368.
DOI: 10.1186/s42466-021-00162-9.
Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients.
Regensburger A, Wagner A, Danko V, Jungert J, Federle A, Klett D
Photoacoustics. 2021; 25:100315.
PMID: 34849338
PMC: 8607197.
DOI: 10.1016/j.pacs.2021.100315.
What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.
Blatnik 3rd A, McGovern V, Burghes A
Int J Mol Sci. 2021; 22(16).
PMID: 34445199
PMC: 8395208.
DOI: 10.3390/ijms22168494.
DNA Damage Response and DNA Repair in Skeletal Myocytes From a Mouse Model of Spinal Muscular Atrophy.
Fayzullina S, Martin L
J Neuropathol Exp Neurol. 2016; 75(9):889-902.
PMID: 27452406
PMC: 5015659.
DOI: 10.1093/jnen/nlw064.
Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse.
McGovern V, Massoni-Laporte A, Wang X, Le T, Le H, Beattie C
PLoS One. 2015; 10(7):e0132364.
PMID: 26134627
PMC: 4489873.
DOI: 10.1371/journal.pone.0132364.
Spinal muscular atrophy: journeying from bench to bedside.
Awano T, Kim J, Monani U
Neurotherapeutics. 2014; 11(4):786-95.
PMID: 24990202
PMC: 4391383.
DOI: 10.1007/s13311-014-0293-y.
Skeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA).
Fayzullina S, Martin L
PLoS One. 2014; 9(3):e93329.
PMID: 24667816
PMC: 3965546.
DOI: 10.1371/journal.pone.0093329.
Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond.
Monani U, De Vivo D
Future Neurol. 2014; 9(1):49-65.
PMID: 24648831
PMC: 3955729.
DOI: 10.2217/fnl.13.58.
Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy.
Krosschell K, Scott C, Maczulski J, Lewelt A, Reyna S, Swoboda K
Muscle Nerve. 2011; 44(2):246-51.
PMID: 21698647
PMC: 3136587.
DOI: 10.1002/mus.22040.
Muscular Dystrophy and Related Disorders.
Dubowitz V
Postgrad Med J. 2011; 41(476):332-46.
PMID: 21313711
PMC: 2483018.
DOI: 10.1136/pgmj.41.476.332.
Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.
Brzustowicz L, Wang C, Matseoane D, Kleyn P, Vitale E, Das K
Am J Hum Genet. 1995; 56(1):210-5.
PMID: 7825580
PMC: 1801325.
Prospective study of gross motor development in children with SMA type II.
Bono R, Inverno M, Botteon G, Iotti E, Estienne M, Berardinelli A
Ital J Neurol Sci. 1995; 16(4):223-30.
PMID: 7591674
DOI: 10.1007/BF02282993.
Hand and ECG tremor in spinal muscular atrophy.
Dawood A, Moosa A
Arch Dis Child. 1983; 58(5):376-8.
PMID: 6859919
PMC: 1627871.
DOI: 10.1136/adc.58.5.376.
Clinical study of proximal spinal muscular atrophy. Report on 89 cases.
Tonali P, Servidei S, Uncini A, Restuccia D, Galluzzi G
Ital J Neurol Sci. 1984; 5(4):423-32.
PMID: 6530365
DOI: 10.1007/BF02042627.
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence.
Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J, Szirkowiec W
J Med Genet. 1984; 21(6):447-50.
PMID: 6512833
PMC: 1049345.
DOI: 10.1136/jmg.21.6.447.
