-
1
-
-
0036700962
-
Neurofibromatosis 1, clinical manifestations and diagnostic criteria
-
Friedman, J.M. (2002) Neurofibromatosis 1, clinical manifestations and diagnostic criteria. J. Child. Neurol., 17, 548-554.
-
(2002)
J. Child. Neurol.
, vol.17
, pp. 548-554
-
-
Friedman, J.M.1
-
2
-
-
40849135622
-
Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1)
-
Schindeler, A. and Little, D.G. (2008) Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1). Bone, 42, 616-622.
-
(2008)
Bone
, vol.42
, pp. 616-622
-
-
Schindeler, A.1
Little, D.G.2
-
3
-
-
0030957310
-
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
-
Gutmann, D.H., Aylsworth, A., Carey, J.C., Korf, B., Marks, J., Pyeritz, R.E., Rubenstein,A. and Viskochil, D. (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA, 278, 51-57.
-
(1997)
JAMA
, vol.278
, pp. 51-57
-
-
Gutmann, D.H.1
Aylsworth, A.2
Carey, J.C.3
Korf, B.4
Marks, J.5
Pyeritz, R.E.6
Rubenstein, A.7
Viskochil, D.8
-
4
-
-
23744514711
-
Decreased bone mineral density and content in neurofibromatosis type 1, lowest local values are located in the load-carrying parts of the body
-
Kuorilehto, T., Poyhonen, M., Bloigu, R., Heikkinen, J., Vaananen, K. and Peltonen, J. (2005) Decreased bone mineral density and content in neurofibromatosis type 1, lowest local values are located in the load-carrying parts of the body. Osteoporos. Int., 16, 928-936.
-
(2005)
Osteoporos. Int.
, vol.16
, pp. 928-936
-
-
Kuorilehto, T.1
Poyhonen, M.2
Bloigu, R.3
Heikkinen, J.4
Vaananen, K.5
Peltonen, J.6
-
5
-
-
24044469050
-
Decreased bone mineral density in patients with neurofibromatosis 1
-
Lammert, M., Kappler, M., Mautner, V.F., Lammert, K., Storkel, S., Friedman, J.M. and Atkins, D. (2005) Decreased bone mineral density in patients with neurofibromatosis 1. Osteoporos. Int., 16, 1161-1166.
-
(2005)
Osteoporos. Int.
, vol.16
, pp. 1161-1166
-
-
Lammert, M.1
Kappler, M.2
Mautner, V.F.3
Lammert, K.4
Storkel, S.5
Friedman, J.M.6
Atkins, D.7
-
6
-
-
65949118898
-
Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)
-
Tucker, T., Schnabel, C., Hartmann, M., Friedrich, R.E., Frieling, I., Kruse, H.P., Mautner, V.F. and Friedman, J.M. (2009) Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J. Med. Genet., 46, 259-265.
-
(2009)
J. Med. Genet.
, vol.46
, pp. 259-265
-
-
Tucker, T.1
Schnabel, C.2
Hartmann, M.3
Friedrich, R.E.4
Frieling, I.5
Kruse, H.P.6
Mautner, V.F.7
Friedman, J.M.8
-
7
-
-
33745259022
-
Double inactivation of NF1 in tibial pseudarthrosis
-
Stevenson, D.A., Zhou, H., Ashrafi, S., Messiaen, L.M., Carey, J.C., D'Astous, J.L., Santora, S.D. and Viskochil, D.H. (2006) Double inactivation of NF1 in tibial pseudarthrosis. Am. J. Hum. Genet., 79, 143- 148.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 143-148
-
-
Stevenson, D.A.1
Zhou, H.2
Ashrafi, S.3
Messiaen, L.M.4
Carey, J.C.5
D'Astous, J.L.6
Santora, S.D.7
Viskochil, D.H.8
-
8
-
-
20944447547
-
Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning
-
Yu, X., Chen, S., Potter, O.L., Murthy, S.M., Li, J., Pulcini, J.M., Ohashi, N., Winata, T., Everett, E.T., Ingram, D. et al. (2005) Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning. Bone, 36, 793-802.
-
(2005)
Bone
, vol.36
, pp. 793-802
-
-
Yu, X.1
Chen, S.2
Potter, O.L.3
Murthy, S.M.4
Li, J.5
Pulcini, J.M.6
Ohashi, N.7
Winata, T.8
Everett, E.T.9
Ingram, D.10
-
9
-
-
0028205305
-
Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation
-
Gutmann, D.H., Cole, J.L. and Collins, F.S. (1994) Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation. J. Neurosci. Res., 37, 398-405.
-
(1994)
J. Neurosci. Res.
, vol.37
, pp. 398-405
-
-
Gutmann, D.H.1
Cole, J.L.2
Collins, F.S.3
-
10
-
-
0347994921
-
Neurofibromatosis type 1, motor and cognitive function and T2-weighted MRI hyperintensities
-
Feldmann, R., Denecke, J., Grenzebach, M., Schuierer, G. and Weglage, J. (2003) Neurofibromatosis type 1, motor and cognitive function and T2-weighted MRI hyperintensities. Neurology, 61, 1725-1728.
-
(2003)
Neurology
, vol.61
, pp. 1725-1728
-
-
Feldmann, R.1
Denecke, J.2
Grenzebach, M.3
Schuierer, G.4
Weglage, J.5
-
11
-
-
34249868715
-
Decreased bone mineral density in neurofibromatosis type 1, results from a pediatric cohort
-
Dulai, S., Briody, J., Schindeler, A., North, K.N., Cowell, C.T. and Little, D.G. (2007) Decreased bone mineral density in neurofibromatosis type 1, results from a pediatric cohort. J. Pediatr. Orthop., 27, 472-475.
-
(2007)
J. Pediatr. Orthop.
, vol.27
, pp. 472-475
-
-
Dulai, S.1
Briody, J.2
Schindeler, A.3
North, K.N.4
Cowell, C.T.5
Little, D.G.6
-
12
-
-
79959777257
-
Neurofibromin (Nf1) is required for skeletal muscle development
-
Kossler, N., Stricker, S., Rodelsperger, C., Robinson, P.N., Kim, J., Dietrich, C., Osswald, M., Kuhnisch, J., Stevenson, D.A., Braun, T. et al. (2011) Neurofibromin (Nf1) is required for skeletal muscle development. Hum. Mol. Genet., 20, 2697-2709.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2697-2709
-
-
Kossler, N.1
Stricker, S.2
Rodelsperger, C.3
Robinson, P.N.4
Kim, J.5
Dietrich, C.6
Osswald, M.7
Kuhnisch, J.8
Stevenson, D.A.9
Braun, T.10
-
13
-
-
25444469064
-
Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography
-
Stevenson, D.A., Moyer-Mileur, L.J., Carey, J.C., Quick, J.L., Hoff, C.J. and Viskochil, D.H. (2005) Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography. J. Musculoskelet. Neuronal. Interact., 5, 145-149.
-
(2005)
J. Musculoskelet. Neuronal. Interact.
, vol.5
, pp. 145-149
-
-
Stevenson, D.A.1
Moyer-Mileur, L.J.2
Carey, J.C.3
Quick, J.L.4
Hoff, C.J.5
Viskochil, D.H.6
-
14
-
-
67649418467
-
Muscular force is reduced in neurofibromatosis type 1.J
-
Souza, J.F., Passos, R.L., Guedes, A.C., Rezende, N.A. and Rodrigues, L.O. (2009) Muscular force is reduced in neurofibromatosis type 1.J. Musculoskelet. Neuronal. Interact., 9, 15-17.
-
(2009)
Musculoskelet. Neuronal. Interact.
, vol.9
, pp. 15-17
-
-
Souza, J.F.1
Passos, R.L.2
Guedes, A.C.3
Rezende, N.A.4
Rodrigues, L.O.5
-
15
-
-
78649386733
-
Motor proficiency in children with neurofibromatosis type 1
-
Johnson, B.A., MacWilliams, B.A., Carey, J.C., Viskochil, D.H., D'Astous, J.L. and Stevenson, D.A. (2010) Motor proficiency in children with neurofibromatosis type 1. Pediatr. Phys. Ther., 22, 344-348.
-
(2010)
Pediatr. Phys. Ther.
, vol.22
, pp. 344-348
-
-
Johnson, B.A.1
MacWilliams, B.A.2
Carey, J.C.3
Viskochil, D.H.4
D'Astous, J.L.5
Stevenson, D.A.6
-
16
-
-
34047151226
-
Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster
-
Tong, J.J., Schriner, S.E., McCleary, D., Day, B.J. and Wallace, D.C. (2007) Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster. Nat. Genet., 39, 476-485.
-
(2007)
Nat. Genet.
, vol.39
, pp. 476-485
-
-
Tong, J.J.1
Schriner, S.E.2
McCleary, D.3
Day, B.J.4
Wallace, D.C.5
-
17
-
-
0028349997
-
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues
-
Brannan, C.I., Perkins, A.S., Vogel, K.S., Ratner, N., Nordlund, M.L., Reid, S.W., Buchberg, A.M., Jenkins, N.A., Parada, L.F. and Copeland, N.G. (1994) Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev., 8, 1019-1029.
-
(1994)
Genes Dev.
, vol.8
, pp. 1019-1029
-
-
Brannan, C.I.1
Perkins, A.S.2
Vogel, K.S.3
Ratner, N.4
Nordlund, M.L.5
Reid, S.W.6
Buchberg, A.M.7
Jenkins, N.A.8
Parada, L.F.9
Copeland, N.G.10
-
18
-
-
17044426802
-
MyoD-cre transgenic mice, a model for conditional mutagenesis and lineage tracing of skeletal muscle
-
Chen, J.C., Mortimer, J., Marley, J. and Goldhamer, D.J. (2005) MyoD-cre transgenic mice, a model for conditional mutagenesis and lineage tracing of skeletal muscle. Genesis., 41, 116-121.
-
(2005)
Genesis.
, vol.41
, pp. 116-121
-
-
Chen, J.C.1
Mortimer, J.2
Marley, J.3
Goldhamer, D.J.4
-
19
-
-
0036293742
-
Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation
-
Bajenaru, M.L., Zhu, Y., Hedrick, N.M., Donahoe, J., Parada, L.F. and Gutmann, D.H. (2002) Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. Mol. Cell. Biol., 22, 5100-5113.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 5100-5113
-
-
Bajenaru, M.L.1
Zhu, Y.2
Hedrick, N.M.3
Donahoe, J.4
Parada, L.F.5
Gutmann, D.H.6
-
20
-
-
49149127016
-
Models of tibial fracture healing in normal and Nf1-deficient mice
-
Schindeler, A., Morse, A., Harry, L., Godfrey, C., Mikulec, K., McDonald, M., Gasser, J.A. and Little, D.G. (2008) Models of tibial fracture healing in normal and Nf1-deficient mice. J. Orthop. Res., 26, 1053-1060.
-
(2008)
J. Orthop. Res.
, vol.26
, pp. 1053-1060
-
-
Schindeler, A.1
Morse, A.2
Harry, L.3
Godfrey, C.4
Mikulec, K.5
McDonald, M.6
Gasser, J.A.7
Little, D.G.8
-
21
-
-
84555189294
-
A murine model of neurofibromatosis type 1 tibial pseudarthrosis featuring proliferative fibrous tissue and osteoclast-like cells
-
El-Hoss, J., Sullivan, K., Cheng, T., Yu, N.Y., Bobyn, J.D., Peacock, L., Mikulec, K., Baldock, P., Alexander, I.E., Schindeler, A. et al. (2012) A murine model of neurofibromatosis type 1 tibial pseudarthrosis featuring proliferative fibrous tissue and osteoclast-like cells. J. Bone. Miner. Res., 27, 68-78.
-
(2012)
J. Bone. Miner. Res.
, vol.27
, pp. 68-78
-
-
El-Hoss, J.1
Sullivan, K.2
Cheng, T.3
Yu, N.Y.4
Bobyn, J.D.5
Peacock, L.6
Mikulec, K.7
Baldock, P.8
Alexander, I.E.9
Schindeler, A.10
-
23
-
-
79955029798
-
Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes, developmental consequences of germline Ras/MAPK activation on myogenesis
-
Tidyman, W.E., Lee, H.S. and Rauen, K.A. (2011) Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes, developmental consequences of germline Ras/MAPK activation on myogenesis. Am. J. Med. Genet. C Semin. Med. Genet., 157, 104-114.
-
(2011)
Am. J. Med. Genet. C Semin. Med. Genet.
, vol.157
, pp. 104-114
-
-
Tidyman, W.E.1
Lee, H.S.2
Rauen, K.A.3
-
24
-
-
84856611050
-
Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1
-
Johnson, B.A., Macwilliams, B., Carey, J.C., Viskochil, D.H., D'Astous, J.L. and Stevenson, D.A. (2012) Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1. Hum. Mov. Sci., 31, 247-254.
-
(2012)
Hum. Mov. Sci.
, vol.31
, pp. 247-254
-
-
Johnson, B.A.1
Macwilliams, B.2
Carey, J.C.3
Viskochil, D.H.4
D'Astous, J.L.5
Stevenson, D.A.6
-
25
-
-
84865310322
-
Peripheral muscle weakness in RASopathies
-
Stevenson, D.A., Allen, S., Tidyman, W.E., Carey, J.C., Viskochil, D.H., Stevens, A., Hanson, H., Sheng, X., Thompson, B.A., Okumura, M.J. et al. (2012) Peripheral muscle weakness in RASopathies. Muscle Nerve, 46, 394-399.
-
(2012)
Muscle Nerve
, vol.46
, pp. 394-399
-
-
Stevenson, D.A.1
Allen, S.2
Tidyman, W.E.3
Carey, J.C.4
Viskochil, D.H.5
Stevens, A.6
Hanson, H.7
Sheng, X.8
Thompson, B.A.9
Okumura, M.J.10
-
26
-
-
84864942432
-
Deterioration of fracture healing in the mouse model ofNF1long bone dysplasia
-
El Khassawna, T., Toben, D., Kolanczyk, M., Schmidt-Bleek, K., Koennecke, I., Schell, H., Mundlos, S. and Duda, G.N. (2012) Deterioration of fracture healing in the mouse model ofNF1long bone dysplasia. Bone, 51, 651-660.
-
(2012)
Bone
, vol.51
, pp. 651-660
-
-
El Khassawna, T.1
Toben, D.2
Kolanczyk, M.3
Schmidt-Bleek, K.4
Koennecke, I.5
Schell, H.6
Mundlos, S.7
Duda, G.N.8
-
27
-
-
84888040564
-
Hyperactive transforming growth factor-b1 signaling potentiates skeletal defects in a neurofibromatosis type 1 mouse model
-
[23 May, Epub ahead of print].
-
Rhodes, S.D., Wu, X., He, Y., Chen, S., Yang, H., Staser, K.W., Wang, J., Zhang, P., Jiang, C., Yokota, H. et al. (2013) Hyperactive transforming growth factor-b1 signaling potentiates skeletal defects in a neurofibromatosis type 1 mouse model. J. Bone. Miner. Res., [23 May, Epub ahead of print].
-
(2013)
J. Bone. Miner. Res.
-
-
Rhodes, S.D.1
Wu, X.2
He, Y.3
Chen, S.4
Yang, H.5
Staser, K.W.6
Wang, J.7
Zhang, P.8
Jiang, C.9
Yokota, H.10
-
28
-
-
0036076389
-
Expression of Cre Recombinase in the developing mouse limb bud driven by a Prxl enhancer
-
Logan, M., Martin, J.F., Nagy, A., Lobe, C., Olson, E.N. and Tabin, C.J. (2002) Expression of Cre Recombinase in the developing mouse limb bud driven by a Prxl enhancer. Genesis, 33, 77-80.
-
(2002)
Genesis
, vol.33
, pp. 77-80
-
-
Logan, M.1
Martin, J.F.2
Nagy, A.3
Lobe, C.4
Olson, E.N.5
Tabin, C.J.6
-
29
-
-
74149092850
-
A suggested role for mitochondria in Noonan syndrome
-
Lee, I., Pecinova, A., Pecina, P., Neel, B.G., Araki, T., Kucherlapati, R., Roberts, A.E. and Huttemann, M. (2010) A suggested role for mitochondria in Noonan syndrome. Biochim. Biophys. Acta, 1802, 275-283.
-
(2010)
Biochim. Biophys. Acta
, vol.1802
, pp. 275-283
-
-
Lee, I.1
Pecinova, A.2
Pecina, P.3
Neel, B.G.4
Araki, T.5
Kucherlapati, R.6
Roberts, A.E.7
Huttemann, M.8
-
30
-
-
78651397169
-
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
-
Kleefstra, T., Wortmann, S.B., Rodenburg, R.J., Bongers, E.M., Hadzsiev, K., Noordam, C., van den Heuvel, L.P., Nillesen, W.M., Hollody, K., Gillessen-Kaesbach, G. et al. (2011) Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. Eur. J. Hum. Genet., 19, 138-144.
-
(2011)
Eur. J. Hum. Genet.
, vol.19
, pp. 138-144
-
-
Kleefstra, T.1
Wortmann, S.B.2
Rodenburg, R.J.3
Bongers, E.M.4
Hadzsiev, K.5
Noordam, C.6
van den Heuvel, L.P.7
Nillesen, W.M.8
Hollody, K.9
Gillessen-Kaesbach, G.10
-
31
-
-
35448950741
-
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency
-
Aeby, A., Sznajer, Y., Cave, H., Rebuffat, E., Van Coster, R., Rigal, O. and Van Bogaert, P. (2007) Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. J. Inherit. Metab. Dis., 30, 827.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 827
-
-
Aeby, A.1
Sznajer, Y.2
Cave, H.3
Rebuffat, E.4
Van Coster, R.5
Rigal, O.6
Van Bogaert, P.7
-
32
-
-
69849090667
-
Increased OXPHOS activity precedes rise in glycolytic rate in H-RasV12/E1A transformed fibroblasts that develop a Warburg phenotype
-
de Groof, A.J., te Lindert, M.M., van Dommelen, M.M., Wu, M., Willemse, M., Smift, A.L., Winer, M., Oerlemans, F., Pluk, H., Fransen, J.A. et al. (2009) Increased OXPHOS activity precedes rise in glycolytic rate in H-RasV12/E1A transformed fibroblasts that develop a Warburg phenotype. Mol. Cancer, 8, 54.
-
(2009)
Mol. Cancer
, vol.8
, pp. 54
-
-
de Groof, A.J.1
te Lindert, M.M.2
van Dommelen, M.M.3
Wu, M.4
Willemse, M.5
Smift, A.L.6
Winer, M.7
Oerlemans, F.8
Pluk, H.9
Fransen, J.A.10
-
33
-
-
77957748796
-
Disorders of muscle lipid metabolism, diagnostic and therapeutic challenges
-
Laforet, P. and Vianey-Saban, C. (2010) Disorders of muscle lipid metabolism, diagnostic and therapeutic challenges. Neuromuscul. Disord., 20, 693-700.
-
(2010)
Neuromuscul. Disord.
, vol.20
, pp. 693-700
-
-
Laforet, P.1
Vianey-Saban, C.2
-
34
-
-
77950662360
-
The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast andETEAin humans
-
Phan, V.T., Ding, V.W., Li, F., Chalkley, R.J., Burlingame, A. and McCormick, F. (2010) The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast andETEAin humans. Mol. Cell. Biol., 30, 2264-2279.
-
(2010)
Mol. Cell. Biol.
, vol.30
, pp. 2264-2279
-
-
Phan, V.T.1
Ding, V.W.2
Li, F.3
Chalkley, R.J.4
Burlingame, A.5
McCormick, F.6
-
35
-
-
0037012848
-
Neurofibromas in NF1, Schwann cell origin and role of tumor environment
-
Zhu, Y., Ghosh, P., Charnay, P., Burns, D.K. and Parada, L.F. (2002) Neurofibromas in NF1, Schwann cell origin and role of tumor environment. Science, 296, 920-922.
-
(2002)
Science
, vol.296
, pp. 920-922
-
-
Zhu, Y.1
Ghosh, P.2
Charnay, P.3
Burns, D.K.4
Parada, L.F.5
-
36
-
-
31544473445
-
Botox induced muscle paralysis rapidly degrades bone
-
Warner, S.E., Sanford, D.A., Becker, B.A., Bain, S.D., Srinivasan, S. and Gross, T.S. (2006) Botox induced muscle paralysis rapidly degrades bone. Bone, 38, 257-264.
-
(2006)
Bone
, vol.38
, pp. 257-264
-
-
Warner, S.E.1
Sanford, D.A.2
Becker, B.A.3
Bain, S.D.4
Srinivasan, S.5
Gross, T.S.6
-
37
-
-
77955271934
-
Validation of an automated computational method for skeletal muscle fibre morphometry
-
Garton, F., Seto, J.T., North, K.N. and Yang, N. (2010) Validation of an automated computational method for skeletal muscle fibre morphometry. Neuromusc. Disord., 20, 540-547.
-
(2010)
Neuromusc. Disord.
, vol.20
, pp. 540-547
-
-
Garton, F.1
Seto, J.T.2
North, K.N.3
Yang, N.4
-
38
-
-
41849132836
-
AnActn3 knockoutmouseprovides mechanistic insights into the association between a actinin-3 deficiency and human athletic performance
-
MacArthur, D.G., Seto, J.T., Chan, S., Quinlan, K.G., Raftery, J.M., Turner, N., Nicholson, M.D., Kee, A.J., Hardeman, E.C., Gunning, P.W. et al. (2008) AnActn3 knockoutmouseprovides mechanistic insights into the association between a actinin-3 deficiency and human athletic performance. Hum. Mol. Genet., 17, 1076-1086.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1076-1086
-
-
MacArthur, D.G.1
Seto, J.T.2
Chan, S.3
Quinlan, K.G.4
Raftery, J.M.5
Turner, N.6
Nicholson, M.D.7
Kee, A.J.8
Hardeman, E.C.9
Gunning, P.W.10
|