-
1
-
-
84859642566
-
Progress and promise: the current status of spinal muscular atrophy therapeutics
-
Van Meerbeke JP, Sumner CJ, (2011) Progress and promise: the current status of spinal muscular atrophy therapeutics. Discov Med 12: 291-305.
-
(2011)
Discov Med
, vol.12
, pp. 291-305
-
-
Van Meerbeke, J.P.1
Sumner, C.J.2
-
2
-
-
79959988589
-
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy
-
Kissel JT, Scott CB, Reyna SP, Crawford TO, Simard LR, et al. (2011) SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One 6: e21296.
-
(2011)
PLoS One
, vol.6
-
-
Kissel, J.T.1
Scott, C.B.2
Reyna, S.P.3
Crawford, T.O.4
Simard, L.R.5
-
3
-
-
9144269242
-
Pilot trial of phenylbutyrate in spinal muscular atrophy
-
Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, et al. (2004) Pilot trial of phenylbutyrate in spinal muscular atrophy. Neuromuscul Disord 14: 130-135.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 130-135
-
-
Mercuri, E.1
Bertini, E.2
Messina, S.3
Pelliccioni, M.4
D'Amico, A.5
-
4
-
-
46749083736
-
Daily salbutamol in young patients with SMA type II
-
Pane M, Staccioli S, Messina S, D'Amico A, Pelliccioni M, et al. (2008) Daily salbutamol in young patients with SMA type II. Neuromuscul Disord 18: 536-540.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 536-540
-
-
Pane, M.1
Staccioli, S.2
Messina, S.3
D'Amico, A.4
Pelliccioni, M.5
-
5
-
-
65849222556
-
Phase II open label study of valproic acid in spinal muscular atrophy
-
Swoboda KJ, Scott CB, Reyna SP, Prior TW, LaSalle B, et al. (2009) Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One 4: e5268.
-
(2009)
PLoS One
, vol.4
-
-
Swoboda, K.J.1
Scott, C.B.2
Reyna, S.P.3
Prior, T.W.4
LaSalle, B.5
-
6
-
-
37649026421
-
Drug treatment for spinal muscular atrophy types II and III
-
Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, et al. (2012) Drug treatment for spinal muscular atrophy types II and III. Cochrane Database Syst Rev 4: CD006282.
-
(2012)
Cochrane Database Syst Rev
, vol.4
-
-
Wadman, R.I.1
Bosboom, W.M.2
van der Pol, W.L.3
van den Berg, L.H.4
Wokke, J.H.5
-
7
-
-
84864050619
-
Drug treatment for spinal muscular atrophy type I
-
Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, et al. (2012) Drug treatment for spinal muscular atrophy type I. Cochrane Database Syst Rev. 4: CD006281.
-
(2012)
Cochrane Database Syst Rev
, vol.4
-
-
Wadman, R.I.1
Bosboom, W.M.2
van der Pol, W.L.3
van den Berg, L.H.4
Wokke, J.H.5
-
8
-
-
0035886619
-
A placebo-controlled trial of gabapentin in spinal muscular atrophy
-
Miller RG, Moore DH, Dronsky V, Bradley W, Barohn R, et al. (2001) A placebo-controlled trial of gabapentin in spinal muscular atrophy. J Neurol Sci 191: 127-131.
-
(2001)
J Neurol Sci
, vol.191
, pp. 127-131
-
-
Miller, R.G.1
Moore, D.H.2
Dronsky, V.3
Bradley, W.4
Barohn, R.5
-
9
-
-
77957929588
-
SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy
-
Swoboda KJ, Scott CB, Crawford TO, Simard LR, Reyna SP, et al. (2010) SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One 5: e12140.
-
(2010)
PLoS One
, vol.5
-
-
Swoboda, K.J.1
Scott, C.B.2
Crawford, T.O.3
Simard, L.R.4
Reyna, S.P.5
-
10
-
-
0043092414
-
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation
-
Main M, Kairon H, Mercuri E, Muntoni F, (2003) The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 7: 155-159.
-
(2003)
Eur J Paediatr Neurol
, vol.7
, pp. 155-159
-
-
Main, M.1
Kairon, H.2
Mercuri, E.3
Muntoni, F.4
-
11
-
-
0036194714
-
Motor unit number estimation in infants and children with spinal muscular atrophy
-
Bromberg MB, Swoboda KJ, (2002) Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve 25: 445-447.
-
(2002)
Muscle Nerve
, vol.25
, pp. 445-447
-
-
Bromberg, M.B.1
Swoboda, K.J.2
-
12
-
-
84994942003
-
A methodology to measure the strength of SMA patients. Dallas-Cincinnati-Newington Spinal Muscular Atrophy (DCN-SMA) Study Group
-
Cook JD, Iannaccone ST, Russman BS, Samaha F, Buncher RR, et al. (1990) A methodology to measure the strength of SMA patients. Dallas-Cincinnati-Newington Spinal Muscular Atrophy (DCN-SMA) Study Group. Muscle Nerve 13Suppl: S7-10.
-
(1990)
Muscle Nerve
, vol.13
-
-
Cook, J.D.1
Iannaccone, S.T.2
Russman, B.S.3
Samaha, F.4
Buncher, R.R.5
-
13
-
-
70449525150
-
The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module
-
Iannaccone ST, Hynan LS, Morton A, Buchanan R, Limbers CA, et al. (2009) The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module. Neuromuscul Disord 19: 805-812.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 805-812
-
-
Iannaccone, S.T.1
Hynan, L.S.2
Morton, A.3
Buchanan, R.4
Limbers, C.A.5
-
14
-
-
0034090948
-
Prospective analysis of strength in spinal muscular atrophy. DCN/Spinal Muscular Atrophy Group
-
Iannaccone ST, Russman BS, Browne RH, Buncher CR, White M, et al. (2000) Prospective analysis of strength in spinal muscular atrophy. DCN/Spinal Muscular Atrophy Group. J Child Neurol 15: 97-101.
-
(2000)
J Child Neurol
, vol.15
, pp. 97-101
-
-
Iannaccone, S.T.1
Russman, B.S.2
Browne, R.H.3
Buncher, C.R.4
White, M.5
-
15
-
-
79958724642
-
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year
-
Kaufmann P, McDermott MP, Darras BT, Finkel R, Kang P, et al. (2011) Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol 68: 779-786.
-
(2011)
Arch Neurol
, vol.68
, pp. 779-786
-
-
Kaufmann, P.1
McDermott, M.P.2
Darras, B.T.3
Finkel, R.4
Kang, P.5
-
16
-
-
33746355222
-
A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy
-
Krosschell KJ, Maczulski JA, Crawford TO, Scott C, Swoboda KJ, (2006) A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul Disord 16: 417-426.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 417-426
-
-
Krosschell, K.J.1
Maczulski, J.A.2
Crawford, T.O.3
Scott, C.4
Swoboda, K.J.5
-
17
-
-
77954103716
-
Compound muscle action potential and motor function in children with spinal muscular atrophy
-
Lewelt A, Krosschell KJ, Scott C, Sakonju A, Kissel JT, et al. (2010) Compound muscle action potential and motor function in children with spinal muscular atrophy. Muscle Nerve 42: 703-708.
-
(2010)
Muscle Nerve
, vol.42
, pp. 703-708
-
-
Lewelt, A.1
Krosschell, K.J.2
Scott, C.3
Sakonju, A.4
Kissel, J.T.5
-
18
-
-
33745027696
-
The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy
-
Nelson L, Owens H, Hynan LS, Iannaccone ST, Am SG, (2006) The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy. Neuromuscul Disord 16: 374-380.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 374-380
-
-
Nelson, L.1
Owens, H.2
Hynan, L.S.3
Iannaccone, S.T.4
Am, S.G.5
-
19
-
-
34548426950
-
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
-
O'Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, et al. (2007) An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord 17: 693-697.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 693-697
-
-
O'Hagen, J.M.1
Glanzman, A.M.2
McDermott, M.P.3
Ryan, P.A.4
Flickinger, J.5
-
20
-
-
0028145097
-
Pulmonary function in spinal muscular atrophy
-
Samaha FJ, Buncher CR, Russman BS, White ML, Iannaccone ST, et al. (1994) Pulmonary function in spinal muscular atrophy. J Child Neurol 9: 326-329.
-
(1994)
J Child Neurol
, vol.9
, pp. 326-329
-
-
Samaha, F.J.1
Buncher, C.R.2
Russman, B.S.3
White, M.L.4
Iannaccone, S.T.5
-
21
-
-
79251613020
-
Biomarkers in rare disorders: the experience with spinal muscular atrophy
-
Tiziano FD, Neri G, Brahe C, (2010) Biomarkers in rare disorders: the experience with spinal muscular atrophy. Int J Mol Sci 12: 24-38.
-
(2010)
Int J Mol Sci
, vol.12
, pp. 24-38
-
-
Tiziano, F.D.1
Neri, G.2
Brahe, C.3
-
22
-
-
84871313487
-
Prospective cohort study of spinal muscular atrophy types 2 and 3
-
Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, et al. (2012) Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology.
-
(2012)
Neurology
-
-
Kaufmann, P.1
McDermott, M.P.2
Darras, B.T.3
Finkel, R.S.4
Sproule, D.M.5
-
23
-
-
78649679487
-
Characterizing spinal muscular atrophy with electrical impedance myography
-
Rutkove SB, Shefner JM, Gregas M, Butler H, Caracciolo J, et al. (2010) Characterizing spinal muscular atrophy with electrical impedance myography. Muscle Nerve 42: 915-921.
-
(2010)
Muscle Nerve
, vol.42
, pp. 915-921
-
-
Rutkove, S.B.1
Shefner, J.M.2
Gregas, M.3
Butler, H.4
Caracciolo, J.5
-
24
-
-
79952660818
-
Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy
-
Sproule DM, Punyanitya M, Shen W, Dashnaw S, Martens B, et al. (2011) Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy. J Child Neurol 26: 309-317.
-
(2011)
J Child Neurol
, vol.26
, pp. 309-317
-
-
Sproule, D.M.1
Punyanitya, M.2
Shen, W.3
Dashnaw, S.4
Martens, B.5
-
25
-
-
84860467692
-
Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study
-
Crawford TO, Paushkin SV, Kobayashi DT, Forrest SJ, Joyce CL, et al. (2012) Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One 7: e33572.
-
(2012)
PLoS One
, vol.7
-
-
Crawford, T.O.1
Paushkin, S.V.2
Kobayashi, D.T.3
Forrest, S.J.4
Joyce, C.L.5
-
26
-
-
84860476261
-
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study
-
Finkel RS, Crawford TO, Swoboda KJ, Kaufmann P, Juhasz P, et al. (2012) Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PLoS One 7: e35462.
-
(2012)
PLoS One
, vol.7
-
-
Finkel, R.S.1
Crawford, T.O.2
Swoboda, K.J.3
Kaufmann, P.4
Juhasz, P.5
-
27
-
-
85080348071
-
-
Regression models for categorical and limited dependent variables: SAGE Publications
-
Long JS (1997) Limited outcome: The Tobit model. Regression models for categorical and limited dependent variables: SAGE Publications. 187-216.
-
(1997)
Limited outcome: The Tobit model
, pp. 187-216
-
-
Long, J.S.1
-
28
-
-
80053902729
-
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
-
Hua Y, Sahashi K, Rigo F, Hung G, Horev G, et al. (2011) Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 478: 123-126.
-
(2011)
Nature
, vol.478
, pp. 123-126
-
-
Hua, Y.1
Sahashi, K.2
Rigo, F.3
Hung, G.4
Horev, G.5
-
29
-
-
79954534432
-
Increased IGF-1 in muscle modulates the phenotype of severe SMA mice
-
Bosch-Marce M, Wee CD, Martinez TL, Lipkes CE, Choe DW, et al. (2011) Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet 20: 1844-1853.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1844-1853
-
-
Bosch-Marce, M.1
Wee, C.D.2
Martinez, T.L.3
Lipkes, C.E.4
Choe, D.W.5
-
30
-
-
84866759473
-
IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of SMA
-
Murdocca M, Malgieri A, Luchetti A, Saieva L, Dobrowolny G, et al. (2012) IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of SMA. Mol Med.
-
(2012)
Mol Med
-
-
Murdocca, M.1
Malgieri, A.2
Luchetti, A.3
Saieva, L.4
Dobrowolny, G.5
-
31
-
-
79951826869
-
Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy
-
Shababi M, Glascock J, Lorson CL, (2011) Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy. Hum Gene Ther 22: 135-144.
-
(2011)
Hum Gene Ther
, vol.22
, pp. 135-144
-
-
Shababi, M.1
Glascock, J.2
Lorson, C.L.3
-
32
-
-
65649121522
-
Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
-
Millino C, Fanin M, Vettori A, Laveder P, Mostacciuolo ML, et al. (2009) Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy. BMC Med 7: 14.
-
(2009)
BMC Med
, vol.7
, pp. 14
-
-
Millino, C.1
Fanin, M.2
Vettori, A.3
Laveder, P.4
Mostacciuolo, M.L.5
-
33
-
-
84870601342
-
Evaluation of peripheral blood mononuclear cell processing and analysis for survival motor neuron protein
-
Kobayashi DT, Decker D, Zaworski P, Klott K, McGonigal J, et al. (2012) Evaluation of peripheral blood mononuclear cell processing and analysis for survival motor neuron protein. PLoS One 7: e50763.
-
(2012)
PLoS One
, vol.7
-
-
Kobayashi, D.T.1
Decker, D.2
Zaworski, P.3
Klott, K.4
McGonigal, J.5
-
34
-
-
85080327639
-
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study
-
Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, et al. (2012) Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Eur J Hum Genet.
-
(2012)
Eur J Hum Genet
-
-
Tiziano, F.D.1
Lomastro, R.2
Di Pietro, L.3
Barbara Pasanisi, M.4
Fiori, S.5
-
35
-
-
84865592642
-
Glucose metabolism and pancreatic defects in spinal muscular atrophy
-
Bowerman M, Swoboda KJ, Michalski JP, Wang GS, Reeks C, et al. (2012) Glucose metabolism and pancreatic defects in spinal muscular atrophy. Ann Neurol 72: 256-268.
-
(2012)
Ann Neurol
, vol.72
, pp. 256-268
-
-
Bowerman, M.1
Swoboda, K.J.2
Michalski, J.P.3
Wang, G.S.4
Reeks, C.5
-
36
-
-
0033028208
-
Abnormal fatty acid metabolism in childhood spinal muscular atrophy
-
Crawford TO, Sladky JT, Hurko O, Besner-Johnston A, Kelley RI, (1999) Abnormal fatty acid metabolism in childhood spinal muscular atrophy. Ann Neurol 45: 337-343.
-
(1999)
Ann Neurol
, vol.45
, pp. 337-343
-
-
Crawford, T.O.1
Sladky, J.T.2
Hurko, O.3
Besner-Johnston, A.4
Kelley, R.I.5
-
37
-
-
83455213467
-
Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
-
Ling KK, Gibbs RM, Feng Z, Ko CP, (2012) Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet 21: 185-195.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 185-195
-
-
Ling, K.K.1
Gibbs, R.M.2
Feng, Z.3
Ko, C.P.4
-
38
-
-
80054880080
-
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy
-
Mutsaers CA, Wishart TM, Lamont DJ, Riessland M, Schreml J, et al. (2011) Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet 20: 4334-4344.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 4334-4344
-
-
Mutsaers, C.A.1
Wishart, T.M.2
Lamont, D.J.3
Riessland, M.4
Schreml, J.5
-
39
-
-
80053910283
-
Extracellular matrix functions during neuronal migration and lamination in the mammalian central nervous system
-
Franco SJ, Muller U, (2011) Extracellular matrix functions during neuronal migration and lamination in the mammalian central nervous system. Dev Neurobiol 71: 889-900.
-
(2011)
Dev Neurobiol
, vol.71
, pp. 889-900
-
-
Franco, S.J.1
Muller, U.2
-
40
-
-
28644440157
-
Bone morphogenetic protein signalling and vertebrate nervous system development
-
Liu A, Niswander LA, (2005) Bone morphogenetic protein signalling and vertebrate nervous system development. Nat Rev Neurosci 6: 945-954.
-
(2005)
Nat Rev Neurosci
, vol.6
, pp. 945-954
-
-
Liu, A.1
Niswander, L.A.2
-
41
-
-
80655147176
-
Identification of a panel of novel serum osteoarthritis biomarkers
-
Fernandez-Puente P, Mateos J, Fernandez-Costa C, Oreiro N, Fernandez-Lopez C, et al. (2011) Identification of a panel of novel serum osteoarthritis biomarkers. J Proteome Res 10: 5095-5101.
-
(2011)
J Proteome Res
, vol.10
, pp. 5095-5101
-
-
Fernandez-Puente, P.1
Mateos, J.2
Fernandez-Costa, C.3
Oreiro, N.4
Fernandez-Lopez, C.5
-
42
-
-
0030843025
-
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
-
Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, et al. (1997) Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 17: 104-108.
-
(1997)
Nat Genet
, vol.17
, pp. 104-108
-
-
Burch, G.H.1
Gong, Y.2
Liu, W.3
Dettman, R.W.4
Curry, C.J.5
-
43
-
-
0035090483
-
Quantitative analysis of gene expression in human articular cartilage from normal and osteoarthritic joints
-
Martin I, Jakob M, Schafer D, Dick W, Spagnoli G, et al. (2001) Quantitative analysis of gene expression in human articular cartilage from normal and osteoarthritic joints. Osteoarthritis Cartilage 9: 112-118.
-
(2001)
Osteoarthritis Cartilage
, vol.9
, pp. 112-118
-
-
Martin, I.1
Jakob, M.2
Schafer, D.3
Dick, W.4
Spagnoli, G.5
-
44
-
-
20144367221
-
Overexpression of osteopontin in rheumatoid synovial mononuclear cells is associated with joint inflammation, not with genetic polymorphism
-
Xu G, Sun W, He D, Wang L, Zheng W, et al. (2005) Overexpression of osteopontin in rheumatoid synovial mononuclear cells is associated with joint inflammation, not with genetic polymorphism. J Rheumatol 32: 410-416.
-
(2005)
J Rheumatol
, vol.32
, pp. 410-416
-
-
Xu, G.1
Sun, W.2
He, D.3
Wang, L.4
Zheng, W.5
-
45
-
-
68849104811
-
Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy
-
Shanmugarajan S, Tsuruga E, Swoboda KJ, Maria BL, Ries WL, et al. (2009) Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol 219: 52-60.
-
(2009)
J Pathol
, vol.219
, pp. 52-60
-
-
Shanmugarajan, S.1
Tsuruga, E.2
Swoboda, K.J.3
Maria, B.L.4
Ries, W.L.5
-
46
-
-
34548157263
-
Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling
-
Shanmugarajan S, Swoboda KJ, Iannaccone ST, Ries WL, Maria BL, et al. (2007) Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling. J Child Neurol 22: 967-973.
-
(2007)
J Child Neurol
, vol.22
, pp. 967-973
-
-
Shanmugarajan, S.1
Swoboda, K.J.2
Iannaccone, S.T.3
Ries, W.L.4
Maria, B.L.5
-
47
-
-
80455135068
-
T-cadherin (Cdh13) in association with pancreatic beta-cell granules contributes to second phase insulin secretion
-
Tyrberg B, Miles P, Azizian KT, Denzel MS, Nieves ML, et al. (2011) T-cadherin (Cdh13) in association with pancreatic beta-cell granules contributes to second phase insulin secretion. Islets 3: 327-337.
-
(2011)
Islets
, vol.3
, pp. 327-337
-
-
Tyrberg, B.1
Miles, P.2
Azizian, K.T.3
Denzel, M.S.4
Nieves, M.L.5
-
48
-
-
77951758117
-
Dipeptidyl peptidase-4 inhibitors for the treatment of type 2 diabetes mellitus
-
Neumiller JJ, Wood L, Campbell RK, (2010) Dipeptidyl peptidase-4 inhibitors for the treatment of type 2 diabetes mellitus. Pharmacotherapy 30: 463-484.
-
(2010)
Pharmacotherapy
, vol.30
, pp. 463-484
-
-
Neumiller, J.J.1
Wood, L.2
Campbell, R.K.3
-
49
-
-
52449086907
-
The insulin paradox: aging, proteotoxicity and neurodegeneration
-
Cohen E, Dillin A, (2008) The insulin paradox: aging, proteotoxicity and neurodegeneration. Nat Rev Neurosci 9: 759-767.
-
(2008)
Nat Rev Neurosci
, vol.9
, pp. 759-767
-
-
Cohen, E.1
Dillin, A.2
-
50
-
-
77954027340
-
Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy
-
Sproule DM, Montes J, Dunaway S, Montgomery M, Battista V, et al. (2010) Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. Neuromuscul Disord 20: 448-452.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 448-452
-
-
Sproule, D.M.1
Montes, J.2
Dunaway, S.3
Montgomery, M.4
Battista, V.5
-
51
-
-
84862840111
-
Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2
-
Sproule DM, Hasnain R, Koenigsberger D, Montgomery M, De Vivo DC, et al. (2012) Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2. J Child Neurol 27: 845-851.
-
(2012)
J Child Neurol
, vol.27
, pp. 845-851
-
-
Sproule, D.M.1
Hasnain, R.2
Koenigsberger, D.3
Montgomery, M.4
De Vivo, D.C.5
-
52
-
-
23444460111
-
Genetics of leptin and obesity: a HuGE review
-
Paracchini V, Pedotti P, Taioli E, (2005) Genetics of leptin and obesity: a HuGE review. Am J Epidemiol 162: 101-114.
-
(2005)
Am J Epidemiol
, vol.162
, pp. 101-114
-
-
Paracchini, V.1
Pedotti, P.2
Taioli, E.3
-
53
-
-
79954624814
-
ETS-domain transcription factor Elk-1 mediates neuronal survival: SMN as a potential target
-
Demir O, Aysit N, Onder Z, Turkel N, Ozturk G, et al. (2011) ETS-domain transcription factor Elk-1 mediates neuronal survival: SMN as a potential target. Biochim Biophys Acta 1812: 652-662.
-
(2011)
Biochim Biophys Acta
, vol.1812
, pp. 652-662
-
-
Demir, O.1
Aysit, N.2
Onder, Z.3
Turkel, N.4
Ozturk, G.5
-
54
-
-
78651094423
-
HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects
-
Hubers L, Valderrama-Carvajal H, Laframboise J, Timbers J, Sanchez G, et al. (2011) HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. Hum Mol Genet 20: 553-579.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 553-579
-
-
Hubers, L.1
Valderrama-Carvajal, H.2
Laframboise, J.3
Timbers, J.4
Sanchez, G.5
-
55
-
-
80052333116
-
Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses
-
Kobayashi DT, Olson RJ, Sly L, Swanson CJ, Chung B, et al. (2011) Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses. PLoS One 6: e24269.
-
(2011)
PLoS One
, vol.6
-
-
Kobayashi, D.T.1
Olson, R.J.2
Sly, L.3
Swanson, C.J.4
Chung, B.5
-
56
-
-
52449095571
-
Modeling spinal muscular atrophy in Drosophila
-
Chang HC, Dimlich DN, Yokokura T, Mukherjee A, Kankel MW, et al. (2008) Modeling spinal muscular atrophy in Drosophila. PLoS One 3: e3209.
-
(2008)
PLoS One
, vol.3
-
-
Chang, H.C.1
Dimlich, D.N.2
Yokokura, T.3
Mukherjee, A.4
Kankel, M.W.5
-
57
-
-
78449265215
-
Conserved genes act as modifiers of invertebrate SMN loss of function defects
-
Dimitriadi M, Sleigh JN, Walker A, Chang HC, Sen A, et al. (2010) Conserved genes act as modifiers of invertebrate SMN loss of function defects. PLoS Genet 6: e1001172.
-
(2010)
PLoS Genet
, vol.6
-
-
Dimitriadi, M.1
Sleigh, J.N.2
Walker, A.3
Chang, H.C.4
Sen, A.5
-
58
-
-
79960560680
-
A screen for regulators of survival of motor neuron protein levels
-
Makhortova NR, Hayhurst M, Cerqueira A, Sinor-Anderson AD, Zhao WN, et al. (2011) A screen for regulators of survival of motor neuron protein levels. Nat Chem Biol 7: 544-552.
-
(2011)
Nat Chem Biol
, vol.7
, pp. 544-552
-
-
Makhortova, N.R.1
Hayhurst, M.2
Cerqueira, A.3
Sinor-Anderson, A.D.4
Zhao, W.N.5
-
59
-
-
81855166084
-
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin
-
Nolle A, Zeug A, van Bergeijk J, Tonges L, Gerhard R, et al. (2011) The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin. Hum Mol Genet 20: 4865-4878.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 4865-4878
-
-
Nolle, A.1
Zeug, A.2
van Bergeijk, J.3
Tonges, L.4
Gerhard, R.5
-
60
-
-
84856822983
-
Analysis of the fibroblast growth factor system reveals alterations in a mouse model of spinal muscular atrophy
-
Hensel N, Ratzka A, Brinkmann H, Klimaschewski L, Grothe C, et al. (2012) Analysis of the fibroblast growth factor system reveals alterations in a mouse model of spinal muscular atrophy. PLoS One 7: e31202.
-
(2012)
PLoS One
, vol.7
-
-
Hensel, N.1
Ratzka, A.2
Brinkmann, H.3
Klimaschewski, L.4
Grothe, C.5
-
61
-
-
84864383691
-
Human Axonal Survival of Motor Neuron (a-SMN) Protein Stimulates Axon Growth, Cell Motility, C-C Motif Ligand 2 (CCL2), and Insulin-like Growth Factor-1 (IGF1) Production
-
Locatelli D, Terao M, Fratelli M, Zanetti A, Kurosaki M, et al. (2012) Human Axonal Survival of Motor Neuron (a-SMN) Protein Stimulates Axon Growth, Cell Motility, C-C Motif Ligand 2 (CCL2), and Insulin-like Growth Factor-1 (IGF1) Production. J Biol Chem 287: 25782-25794.
-
(2012)
J Biol Chem
, vol.287
, pp. 25782-25794
-
-
Locatelli, D.1
Terao, M.2
Fratelli, M.3
Zanetti, A.4
Kurosaki, M.5
-
62
-
-
79960985352
-
Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway
-
Farooq F, Molina FA, Hadwen J, MacKenzie D, Witherspoon L, et al. (2011) Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. J Clin Invest 121: 3042-3050.
-
(2011)
J Clin Invest
, vol.121
, pp. 3042-3050
-
-
Farooq, F.1
Molina, F.A.2
Hadwen, J.3
MacKenzie, D.4
Witherspoon, L.5
-
63
-
-
71549118827
-
Applying proteomics to the diagnosis and treatment of ALS and related diseases
-
Bowser R, Lacomis D, (2009) Applying proteomics to the diagnosis and treatment of ALS and related diseases. Muscle Nerve 40: 753-762.
-
(2009)
Muscle Nerve
, vol.40
, pp. 753-762
-
-
Bowser, R.1
Lacomis, D.2
-
64
-
-
79955389388
-
Plasma epidermal growth factor levels predict cognitive decline in Parkinson disease
-
Chen-Plotkin AS, Hu WT, Siderowf A, Weintraub D, Goldmann Gross R, et al. (2011) Plasma epidermal growth factor levels predict cognitive decline in Parkinson disease. Ann Neurol 69: 655-663.
-
(2011)
Ann Neurol
, vol.69
, pp. 655-663
-
-
Chen-Plotkin, A.S.1
Hu, W.T.2
Siderowf, A.3
Weintraub, D.4
Goldmann Gross, R.5
-
65
-
-
0037069368
-
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
-
Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA, et al. (2002) Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A 99: 15000-15005.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 15000-15005
-
-
Haslett, J.N.1
Sanoudou, D.2
Kho, A.T.3
Bennett, R.R.4
Greenberg, S.A.5
-
66
-
-
46949083065
-
Decreased serum endoglin level in patients with amyotrophic lateral sclerosis: a preliminary report
-
Ilzecka J, (2008) Decreased serum endoglin level in patients with amyotrophic lateral sclerosis: a preliminary report. Scand J Clin Lab Invest 68: 348-351.
-
(2008)
Scand J Clin Lab Invest
, vol.68
, pp. 348-351
-
-
Ilzecka, J.1
-
67
-
-
33749860079
-
Plasma and cerebrospinal fluid-based protein biomarkers for motor neuron disease
-
Kolarcik C, Bowser R, (2006) Plasma and cerebrospinal fluid-based protein biomarkers for motor neuron disease. Mol Diagn Ther 10: 281-292.
-
(2006)
Mol Diagn Ther
, vol.10
, pp. 281-292
-
-
Kolarcik, C.1
Bowser, R.2
-
68
-
-
84855398606
-
Biochemical alterations associated with ALS
-
Lawton KA, Cudkowicz ME, Brown MV, Alexander D, Caffrey R, et al. (2012) Biochemical alterations associated with ALS. Amyotroph Lateral Scler 13: 110-118.
-
(2012)
Amyotroph Lateral Scler
, vol.13
, pp. 110-118
-
-
Lawton, K.A.1
Cudkowicz, M.E.2
Brown, M.V.3
Alexander, D.4
Caffrey, R.5
-
69
-
-
80053615914
-
Amyotrophic lateral sclerosis multiprotein biomarkers in peripheral blood mononuclear cells
-
Nardo G, Pozzi S, Pignataro M, Lauranzano E, Spano G, et al. (2011) Amyotrophic lateral sclerosis multiprotein biomarkers in peripheral blood mononuclear cells. PLoS One 6: e25545.
-
(2011)
PLoS One
, vol.6
-
-
Nardo, G.1
Pozzi, S.2
Pignataro, M.3
Lauranzano, E.4
Spano, G.5
-
70
-
-
77950795909
-
Proteomics of skeletal muscle differentiation, neuromuscular disorders and fiber aging
-
Ohlendieck K, (2010) Proteomics of skeletal muscle differentiation, neuromuscular disorders and fiber aging. Expert Rev Proteomics 7: 283-296.
-
(2010)
Expert Rev Proteomics
, vol.7
, pp. 283-296
-
-
Ohlendieck, K.1
-
71
-
-
78751634526
-
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
-
Pegoraro E, Hoffman EP, Piva L, Gavassini BF, Cagnin S, et al. (2011) SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 76: 219-226.
-
(2011)
Neurology
, vol.76
, pp. 219-226
-
-
Pegoraro, E.1
Hoffman, E.P.2
Piva, L.3
Gavassini, B.F.4
Cagnin, S.5
-
72
-
-
70349570737
-
Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients
-
Saris CG, Horvath S, van Vught PW, van Es MA, Blauw HM, et al. (2009) Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients. BMC Genomics 10: 405.
-
(2009)
BMC Genomics
, vol.10
, pp. 405
-
-
Saris, C.G.1
Horvath, S.2
van Vught, P.W.3
van Es, M.A.4
Blauw, H.M.5
-
73
-
-
0038804076
-
Modulation of disease risk according to a cathepsin D/apolipoprotein E genotype in Parkinson's disease
-
Schulte T, Bohringer S, Schols L, Muller T, Fischer C, et al. (2003) Modulation of disease risk according to a cathepsin D/apolipoprotein E genotype in Parkinson's disease. J Neural Transm 110: 749-755.
-
(2003)
J Neural Transm
, vol.110
, pp. 749-755
-
-
Schulte, T.1
Bohringer, S.2
Schols, L.3
Muller, T.4
Fischer, C.5
-
74
-
-
70449435231
-
Identifying early markers of Alzheimer's disease using quantitative multiplex proteomic immunoassay panels
-
Soares HD, Chen Y, Sabbagh M, Roher A, Schrijvers E, et al. (2009) Identifying early markers of Alzheimer's disease using quantitative multiplex proteomic immunoassay panels. Ann N Y Acad Sci 1180: 56-67.
-
(2009)
Ann N Y Acad Sci
, vol.1180
, pp. 56-67
-
-
Soares, H.D.1
Chen, Y.2
Sabbagh, M.3
Roher, A.4
Schrijvers, E.5
-
75
-
-
84867340530
-
Plasma Biomarkers Associated With the Apolipoprotein E Genotype and Alzheimer Disease
-
Soares HD, Potter WZ, Pickering E, Kuhn M, Immermann FW, et al. (2012) Plasma Biomarkers Associated With the Apolipoprotein E Genotype and Alzheimer Disease. Arch Neurol: 1-8.
-
(2012)
Arch Neurol
, pp. 1-8
-
-
Soares, H.D.1
Potter, W.Z.2
Pickering, E.3
Kuhn, M.4
Immermann, F.W.5
-
76
-
-
84867889106
-
Machine learning algorithms to classify spinal muscular atrophy subtypes
-
Srivastava T, Darras BT, Wu JS, Rutkove SB, (2012) Machine learning algorithms to classify spinal muscular atrophy subtypes. Neurology 79: 358-364.
-
(2012)
Neurology
, vol.79
, pp. 358-364
-
-
Srivastava, T.1
Darras, B.T.2
Wu, J.S.3
Rutkove, S.B.4
|