Hamilton G. Gillingwater T.H.

Spinal muscular atrophy: going beyond the motor neuron.

Trends Mol Med. 2013; 19: 40-50View in Article Scopus (236) PubMed Abstract Full Text Full Text PDF Google ScholarShababi M. Lorson C.L. Rudnik-Schoneborn S.S.

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?.

J Anat. 2014; 224: 15-28View in Article Scopus (145) PubMed Crossref Google ScholarWirth B.

Spinal muscular atrophy: in the challenge lies a solution.

Trend Neurosci. 2021; 44: 306-322View in Article Scopus (0) PubMed Abstract Full Text Full Text PDF Google ScholarSingh R.N. Howell M.D. Ottesen E.W. Singh N.N.

Diverse role of survival motor neuron protein.

Biochim Biophys Acta Gene Regul Mech. 2017; 1860: 299-315View in Article Scopus (124) PubMed Crossref Google ScholarChaytow H. Huang Y.T. Gillingwater T.H. Faller K.M.E.

The role of survival motor neuron protein (SMN) in protein homeostasis.

Cell Mol Life Sci. 2018; 75: 3877-3894View in Article Scopus (64) PubMed Crossref Google ScholarGroen E.J.N. Perenthaler E. Courtney N.L. Jordan C.Y. Shorrock H.K. van der Hoorn D. et al.

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy.

Hum Mol Genet. 2018; 27: 2851-2862View in Article Scopus (33) PubMed Crossref Google ScholarWalter L.M. Koch C.E. Betts C.A. Ahlskog N. Meijboom K.E. van Westering T.L.E. et al.

Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice.

Hum Mol Genet. 2018; 27: 3582-3597View in Article Scopus (5) PubMed Crossref Google ScholarEaton S.L. Roche S.L. Llavero Hurtado M. Oldknow K.J. Farquharson C. Gillingwater T.H. et al.

Total protein analysis as a reliable loading control for quantitative fluorescent Western blotting.

PLoS ONE. 2013; 8: e72457View in Article Scopus (239) PubMed Crossref Google ScholarHuang Y.T. van der Hoorn D. Ledahawsky L.M. Motyl A.A.L. Jordan C.Y. Gillingwater T.H. et al.

Robust comparison of protein levels across tissues and throughout development using standardized quantitative western blotting.

J Vis Exp. 2019; View in Article Scopus (6) Crossref Google ScholarAllardyce H. Kuhn D. Hernandez-Gerez E. Hensel N. Huang Y.T. Faller K. et al.

Renal pathology in a mouse model of severe Spinal Muscular Atrophy is associated with downregulation of Glial Cell-Line Derived Neurotrophic Factor (GDNF).

Hum Mol Genet. 2020; 29: 2365-2378View in Article Scopus (7) PubMed Crossref Google ScholarNery F.C. Siranosian J.J. Rosales I. Deguise M.O. Sharma A. Muhtaseb A.W. et al.

Impaired kidney structure and function in spinal muscular atrophy.

Neurol Genet. 2019; 5: e353View in Article Scopus (17) PubMed Crossref Google ScholarMartinez-Hernandez R. Soler-Botija C. Also E. Alias L. Caselles L. Gich I. et al.

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

J Neuropathol Exp Neurol. 2009; 68: 474-481View in Article Scopus (61) PubMed Crossref Google ScholarMartinez-Hernandez R. Bernal S. Alias L. Tizzano E.F.

Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.

J Neuropathol Exp Neurol. 2014; 73: 559-567View in Article Scopus (23) PubMed Crossref Google ScholarLing K.K. Gibbs R.M. Feng Z. Ko C.P.

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy.

Hum Mol Genet. 2012; 21: 185-195View in Article Scopus (134) PubMed Crossref Google ScholarMartinez-Hernandez R. Bernal S. Also-Rallo E. Alias L. Barcelo M.J. Hereu M. et al.

Synaptic defects in type I spinal muscular atrophy in human development.

J Pathol. 2013; 229: 49-61View in Article Scopus (61) PubMed Crossref Google ScholarBowerman M. Swoboda K.J. Michalski J.P. Wang G.S. Reeks C. Beauvais A. et al.

Glucose metabolism and pancreatic defects in spinal muscular atrophy.

Ann Neurol. 2012; 72: 256-268View in Article Scopus (109) PubMed Crossref Google ScholarBowerman M. Michalski J.P. Beauvais A. Murray L.M. DeRepentigny Y. Kothary R.

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology.

Hum Mol Genet. 2014; 23: 3432-3444View in Article Scopus (44) PubMed Crossref Google ScholarWood M.J.A. Talbot K. Bowerman M.

Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape.

Hum Mol Genet. 2017; 26: R151-R159View in Article Scopus (39) PubMed Crossref Google ScholarHernandez-Gerez E. Dall'Angelo S. Collinson J.M. Fleming I.N. Parson S.H.

Widespread tissue hypoxia dysregulates cell and metabolic pathways in SMA.

Ann Clin Transl Neurol. 2020; 7: 1580-1593View in Article Scopus (1) PubMed Crossref Google ScholarHensel N. Kubinski S. Claus P.

The need for SMN-independent treatments of spinal muscular atrophy (SMA) to complement SMN-enhancing drugs.

Front Neurol. 2020; 11: 45View in Article Scopus (21) PubMed Crossref Google ScholarHensel N. Brickwedde H. Tsaknakis K. Grages A. Braunschweig L. Luders K.A. et al.

Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy.

Hum Mol Genet. 2020; 29: 2662-2673View in Article Scopus (6) PubMed Crossref Google ScholarMotyl A.A.L. Faller K.M.E. Groen E.J.N. Kline R.A. Eaton S.L. Ledahawsky L.M. et al.

Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy.

Hum Mol Genet. 2020; 29: 2674-2683View in Article Scopus (10) PubMed Crossref Google ScholarLancaster M.A. Renner M. Martin C.A. Wenzel D. Bicknell L.S. Hurles M.E. et al.

Cerebral organoids model human brain development and microcephaly.

Nature. 2013; 501: 373-379View in Article Scopus (2440) PubMed Crossref Google ScholarAndersen J. Revah O. Miura Y. Thom N. Amin N.D. Kelley K.W. et al.

Generation of functional human 3D cortico-motor assembloids.

Cell. 2020; 183 (e26): 1913-1929View in Article Scopus (84) PubMed Abstract Full Text Full Text PDF Google ScholarMasson R. Brusa C. Scoto M. Baranello G.

Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review.

Dev Med Child Neurol. 2021; 63: 527-536View in Article Scopus (2) PubMed Crossref Google ScholarRamos D.M. d'Ydewalle C. Gabbeta V. Dakka A. Klein S.K. Norris D.A. et al.

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.

J Clin Invest. 2019; 129: 4817-4831View in Article Scopus (55) PubMed Crossref Google ScholarDe Amicis R. Baranello G. Foppiani A. Leone A. Battezzati A. Bedogni G. et al.

Growth patterns in children with spinal muscular atrophy.

Orphanet J Rare Dis. 2021; 16: 375View in Article Scopus (2) PubMed Crossref Google ScholarBrener A. Sagi L. Shtamler A. Levy S. Fattal-Valevski A. Lebenthal Y.

Insulin-like growth factor-1 status is associated with insulin resistance in young patients with spinal muscular atrophy.

Neuromuscul Disord. 2020; 30: 888-896View in Article Scopus (5) PubMed Abstract Full Text Full Text PDF Google ScholarMontes J. Goodwin A.M. McDermott M.P. Uher D. Hernandez F.M. Coutts K. et al.

Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy.

Ann Clin Transl Neurol. 2021; 8: 1086-1095View in Article Scopus (4) PubMed Crossref Google ScholarRipolone M. Ronchi D. Violano R. Vallejo D. Fagiolari G. Barca E. et al.

Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy.

JAMA Neurol. 2015; 72: 666-675View in Article Scopus (69) PubMed Crossref Google ScholarOrngreen M.C. Zacho M. Hebert A. Laub M. Vissing J.

Patients with severe muscle wasting are prone to develop hypoglycemia during fasting.

Neurology. 2003; 61: 997-1000View in Article PubMed Crossref Google ScholarWijngaarde C.A. Blank A.C. Stam M. Wadman R.I. van den Berg L.H. van der