-
1
-
-
0033981059
-
Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas
-
Antinheimo J, Sankila R, Carpen O, Pukkala E, Sainio M, Jaaskelainen J. 2000. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology 54:71-76.
-
(2000)
Neurology
, vol.54
, pp. 71-76
-
-
Antinheimo, J.1
Sankila, R.2
Carpen, O.3
Pukkala, E.4
Sainio, M.5
Jaaskelainen, J.6
-
2
-
-
84861191977
-
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: A new syndrome
-
Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, Mao R, Sciot R, Janowski KM, Schuhmann MU, Claes K, Beert E, Garrity JA, Spinner RJ, Stemmer-Rachamimov A, Gavrilova R, Van CF, Mautner V, Legius E. 2012. Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: A new syndrome. Eur J Hum Genet 20:618-625.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 618-625
-
-
Babovic-Vuksanovic, D.1
Messiaen, L.2
Nagel, C.3
Brems, H.4
Scheithauer, B.5
Denayer, E.6
Mao, R.7
Sciot, R.8
Janowski, K.M.9
Schuhmann, M.U.10
Claes, K.11
Beert, E.12
Garrity, J.A.13
Spinner, R.J.14
Stemmer-Rachamimov, A.15
Gavrilova, R.16
Van, C.F.17
Mautner, V.18
Legius, E.19
-
3
-
-
84872288111
-
Accumulation of non-compressive fascicular lesions underlies NF2 polyneuropathy
-
Baumer P, Mautner VF, Baumer T, Schuhmann MU, Tatagiba M, Heiland S, Kaestel T, Bendszus M, Pham M. 2013. Accumulation of non-compressive fascicular lesions underlies NF2 polyneuropathy. J Neurol 260:38-46.
-
(2013)
J Neurol
, vol.260
, pp. 38-46
-
-
Baumer, P.1
Mautner, V.F.2
Baumer, T.3
Schuhmann, M.U.4
Tatagiba, M.5
Heiland, S.6
Kaestel, T.7
Bendszus, M.8
Pham, M.9
-
4
-
-
84874645692
-
Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations
-
Brastianos PK, Horowitz PM, Santagata S, Jones RT, McKenna A, Getz G, Ligon KL, Palescandolo E, Van HP, Ducar MD, Raza A, Sunkavalli A, Macconaill LE, Stemmer-Rachamimov AO, Louis DN, Hahn WC, Dunn IF, Beroukhim R. 2013. Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nat Genet 45:285-289.
-
(2013)
Nat Genet
, vol.45
, pp. 285-289
-
-
Brastianos, P.K.1
Horowitz, P.M.2
Santagata, S.3
Jones, R.T.4
McKenna, A.5
Getz, G.6
Ligon, K.L.7
Palescandolo, E.8
Van, H.P.9
Ducar, M.D.10
Raza, A.11
Sunkavalli, A.12
Macconaill, L.E.13
Stemmer-Rachamimov, A.O.14
Louis, D.N.15
Hahn, W.C.16
Dunn, I.F.17
Beroukhim, R.18
-
5
-
-
84883192699
-
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
-
Burkitt Wright EM, Sach E, Sharif S, Quarrell O, Carroll T, Whitehouse RW, Upadhyaya M, Huson SM, Evans DG. 2013. Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. J Med Genet 50:606-613.
-
(2013)
J Med Genet
, vol.50
, pp. 606-613
-
-
Burkitt Wright, E.M.1
Sach, E.2
Sharif, S.3
Quarrell, O.4
Carroll, T.5
Whitehouse, R.W.6
Upadhyaya, M.7
Huson, S.M.8
Evans, D.G.9
-
6
-
-
84874372046
-
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO
-
Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avsar T, Li J, Murray PB, Henegariu O, Yilmaz S, Gunel JM, Carrion-Grant G, Yilmaz B, Grady C, Tanrikulu B, Bakircioglu M, Kaymakcalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai H, Kolb LE, Hebert RM, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilguvar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kilic T, Lifton RP, Noonan JP, Yasuno K, Gunel M. 2013. Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science 339:1077-1080.
-
(2013)
Science
, vol.339
, pp. 1077-1080
-
-
Clark, V.E.1
Erson-Omay, E.Z.2
Serin, A.3
Yin, J.4
Cotney, J.5
Ozduman, K.6
Avsar, T.7
Li, J.8
Murray, P.B.9
Henegariu, O.10
Yilmaz, S.11
Gunel, J.M.12
Carrion-Grant, G.13
Yilmaz, B.14
Grady, C.15
Tanrikulu, B.16
Bakircioglu, M.17
Kaymakcalan, H.18
Caglayan, A.O.19
Sencar, L.20
Ceyhun, E.21
Atik, A.F.22
Bayri, Y.23
Bai, H.24
Kolb, L.E.25
Hebert, R.M.26
Omay, S.B.27
Mishra-Gorur, K.28
Choi, M.29
Overton, J.D.30
Holland, E.C.31
Mane, S.32
State, M.W.33
Bilguvar, K.34
Baehring, J.M.35
Gutin, P.H.36
Piepmeier, J.M.37
Vortmeyer, A.38
Brennan, C.W.39
Pamir, M.N.40
Kilic, T.41
Lifton, R.P.42
Noonan, J.P.43
Yasuno, K.44
Gunel, M.45
more..
-
7
-
-
54549106766
-
Neurofibromin regulation of ERK signaling modulates GABA release and learning 1
-
Cui Y, Costa RM, Murphy GG, Elgersma Y, Zhu Y, Gutmann DH, Parada LF, Mody I, Silva AJ. 2008. Neurofibromin regulation of ERK signaling modulates GABA release and learning 1. Cell 135:549-560.
-
(2008)
Cell
, vol.135
, pp. 549-560
-
-
Cui, Y.1
Costa, R.M.2
Murphy, G.G.3
Elgersma, Y.4
Zhu, Y.5
Gutmann, D.H.6
Parada, L.F.7
Mody, I.8
Silva, A.J.9
-
8
-
-
84880650871
-
Fractional anisotropy of the optic radiations is associated with visual acuity loss in optic pathway gliomas of neurofibromatosis type 1
-
de Blank PM, Berman JI, Liu GT, Roberts TP, Fisher MJ. 2013. Fractional anisotropy of the optic radiations is associated with visual acuity loss in optic pathway gliomas of neurofibromatosis type 1. Neuro Oncol 15:1088-1095.
-
(2013)
Neuro Oncol
, vol.15
, pp. 1088-1095
-
-
de Blank, P.M.1
Berman, J.I.2
Liu, G.T.3
Roberts, T.P.4
Fisher, M.J.5
-
10
-
-
12344281996
-
Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: Higher incidence than previously thought
-
Evans DG, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R. 2005. Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: Higher incidence than previously thought. Otol Neurotol 26:93-97.
-
(2005)
Otol Neurotol
, vol.26
, pp. 93-97
-
-
Evans, D.G.1
Moran, A.2
King, A.3
Saeed, S.4
Gurusinghe, N.5
Ramsden, R.6
-
11
-
-
80054829001
-
Mortality in neurofibromatosis 1: In North West England: An assessment of actuarial survival in a region of the UK since 1989
-
Evans DG, O'Hara C, Wilding A, Ingham SL, Howard E, Dawson J, Moran A, Scott-Kitching V, Holt F, Huson SM. 2011. Mortality in neurofibromatosis 1: In North West England: An assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet 19:1187-1191.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1187-1191
-
-
Evans, D.G.1
O'Hara, C.2
Wilding, A.3
Ingham, S.L.4
Howard, E.5
Dawson, J.6
Moran, A.7
Scott-Kitching, V.8
Holt, F.9
Huson, S.M.10
-
12
-
-
0033605484
-
Epidemiology of neurofibromatosis type 1
-
Friedman JM. 1999. Epidemiology of neurofibromatosis type 1. Am J Med Genet 89:1-6.
-
(1999)
Am J Med Genet
, vol.89
, pp. 1-6
-
-
Friedman, J.M.1
-
13
-
-
84872586906
-
Autism and other psychiatric comorbidity in neurofibromatosis type 1: Evidence from a population-based study
-
Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, Green J. 2013. Autism and other psychiatric comorbidity in neurofibromatosis type 1: Evidence from a population-based study. Dev Med Child Neurol 55:139-145.
-
(2013)
Dev Med Child Neurol
, vol.55
, pp. 139-145
-
-
Garg, S.1
Lehtonen, A.2
Huson, S.M.3
Emsley, R.4
Trump, D.5
Evans, D.G.6
Green, J.7
-
14
-
-
84896987758
-
mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma
-
Giovannini M, Bonne NX, Vitte J, Chareyre F, Tanaka K, Adams R, Fisher LM, Valeyrie-Allanore L, Wolkenstein P, Goutagny S, Kalamarides M. 2014. mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma. Neuro Oncol 16:493-504.
-
(2014)
Neuro Oncol
, vol.16
, pp. 493-504
-
-
Giovannini, M.1
Bonne, N.X.2
Vitte, J.3
Chareyre, F.4
Tanaka, K.5
Adams, R.6
Fisher, L.M.7
Valeyrie-Allanore, L.8
Wolkenstein, P.9
Goutagny, S.10
Kalamarides, M.11
-
15
-
-
84874602325
-
Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma
-
Gutmann DH, McLellan MD, Hussain I, Wallis JW, Fulton LL, Fulton RS, Magrini V, Demeter R, Wylie T, Kandoth C, Leonard JR, Guha A, Miller CA, Ding L, Mardis ER. 2013. Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma. Genome Res 23:431-439.
-
(2013)
Genome Res
, vol.23
, pp. 431-439
-
-
Gutmann, D.H.1
McLellan, M.D.2
Hussain, I.3
Wallis, J.W.4
Fulton, L.L.5
Fulton, R.S.6
Magrini, V.7
Demeter, R.8
Wylie, T.9
Kandoth, C.10
Leonard, J.R.11
Guha, A.12
Miller, C.A.13
Ding, L.14
Mardis, E.R.15
-
16
-
-
84859915136
-
Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients
-
Harder A, Wesemann M, Hagel C, Schittenhelm J, Fischer S, Tatagiba M, Nagel C, Jeibmann A, Bohring A, Mautner VF, Paulus W. 2012. Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients. Am J Surg Pathol 36:702-709.
-
(2012)
Am J Surg Pathol
, vol.36
, pp. 702-709
-
-
Harder, A.1
Wesemann, M.2
Hagel, C.3
Schittenhelm, J.4
Fischer, S.5
Tatagiba, M.6
Nagel, C.7
Jeibmann, A.8
Bohring, A.9
Mautner, V.F.10
Paulus, W.11
-
17
-
-
84892660517
-
The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2
-
Hornigold RE, Golding JF, Leschziner G, Obholzer R, Gleeson MJ, Thomas N, Walsh D, Saeed S, Ferner RE. 2012. The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2. J Neurol Surg B Skull Base 73:104-111.
-
(2012)
J Neurol Surg B Skull Base
, vol.73
, pp. 104-111
-
-
Hornigold, R.E.1
Golding, J.F.2
Leschziner, G.3
Obholzer, R.4
Gleeson, M.J.5
Thomas, N.6
Walsh, D.7
Saeed, S.8
Ferner, R.E.9
-
18
-
-
84893037944
-
Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas
-
Karajannis MA, Legault G, Hagiwara M, Giancotti FG, Filatov A, Derman A, Hochman T, Goldberg JD, Vega E, Wisoff JH, Golfinos JG, Merkelson A, Roland JT, Allen JC. 2014. Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas. Neuro Oncol 16:292-297.
-
(2014)
Neuro Oncol
, vol.16
, pp. 292-297
-
-
Karajannis, M.A.1
Legault, G.2
Hagiwara, M.3
Giancotti, F.G.4
Filatov, A.5
Derman, A.6
Hochman, T.7
Goldberg, J.D.8
Vega, E.9
Wisoff, J.H.10
Golfinos, J.G.11
Merkelson, A.12
Roland, J.T.13
Allen, J.C.14
-
19
-
-
79959777257
-
Neurofibromin (Nf1) is required for skeletal muscle development
-
Kossler N, Stricker S, Rodelsperger C, Robinson PN, Kim J, Dietrich C, Osswald M, Kuhnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M. 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
Mundlos, S.11
Kolanczyk, M.12
-
20
-
-
47549111338
-
Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: A randomized controlled trial
-
Krab LC, de Goede-Bolder A, Aarsen FK, Pluijm SM, Bouman MJ, van der Geest JN, Lequin M, Catsman CE, Arts WF, Kushner SA, Silva AJ, de Zeeuw CI, Moll HA, Elgersma Y. 2008. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: A randomized controlled trial. JAMA 300:287-294.
-
(2008)
JAMA
, vol.300
, pp. 287-294
-
-
Krab, L.C.1
de Goede-Bolder, A.2
Aarsen, F.K.3
Pluijm, S.M.4
Bouman, M.J.5
van der Geest, J.N.6
Lequin, M.7
Catsman, C.E.8
Arts, W.F.9
Kushner, S.A.10
Silva, A.J.11
de Zeeuw, C.I.12
Moll, H.A.13
Elgersma, Y.14
-
21
-
-
12444334564
-
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment
-
Lammert M, Friedman JM, Kluwe L, Mautner VF. 2005. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 141:71-74.
-
(2005)
Arch Dermatol
, vol.141
, pp. 71-74
-
-
Lammert, M.1
Friedman, J.M.2
Kluwe, L.3
Mautner, V.F.4
-
22
-
-
27644517404
-
The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1
-
Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, Cannon TD, Silva AJ. 2005. The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol 15:1961-1967.
-
(2005)
Curr Biol
, vol.15
, pp. 1961-1967
-
-
Li, W.1
Cui, Y.2
Kushner, S.A.3
Brown, R.A.4
Jentsch, J.D.5
Frankland, P.W.6
Cannon, T.D.7
Silva, A.J.8
-
23
-
-
76749108011
-
Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus
-
Li W, You L, Cooper J, Schiavon G, Pepe-Caprio A, Zhou L, Ishii R, Giovannini M, Hanemann CO, Long SB, Erdjument-Bromage H, Zhou P, Tempst P, Giancotti FG. 2010. Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. Cell 140:477-490.
-
(2010)
Cell
, vol.140
, pp. 477-490
-
-
Li, W.1
You, L.2
Cooper, J.3
Schiavon, G.4
Pepe-Caprio, A.5
Zhou, L.6
Ishii, R.7
Giovannini, M.8
Hanemann, C.O.9
Long, S.B.10
Erdjument-Bromage, H.11
Zhou, P.12
Tempst, P.13
Giancotti, F.G.14
-
24
-
-
84862605178
-
Genetic and pharmacological disruption of the TEAD-YAP complex suppresses the oncogenic activity of YAP
-
Liu-Chittenden Y, Huang B, Shim JS, Chen Q, Lee SJ, Anders RA, Liu JO, Pan D. 2012. Genetic and pharmacological disruption of the TEAD-YAP complex suppresses the oncogenic activity of YAP. Genes Dev 26:1300-1305.
-
(2012)
Genes Dev
, vol.26
, pp. 1300-1305
-
-
Liu-Chittenden, Y.1
Huang, B.2
Shim, J.S.3
Chen, Q.4
Lee, S.J.5
Anders, R.A.6
Liu, J.O.7
Pan, D.8
-
25
-
-
84883741416
-
Meningioma progression in mice triggered by Nf2 and Cdkn2ab inactivation
-
Peyre M, Stemmer-Rachamimov A, Clermont-Taranchon E, Quentin S, El-Taraya N, Walczak C, Volk A, Niwa-Kawakita M, Karboul N, Giovannini M, Kalamarides M. 2013. Meningioma progression in mice triggered by Nf2 and Cdkn2ab inactivation. Oncogene 32:4264-4272.
-
(2013)
Oncogene
, vol.32
, pp. 4264-4272
-
-
Peyre, M.1
Stemmer-Rachamimov, A.2
Clermont-Taranchon, E.3
Quentin, S.4
El-Taraya, N.5
Walczak, C.6
Volk, A.7
Niwa-Kawakita, M.8
Karboul, N.9
Giovannini, M.10
Kalamarides, M.11
-
26
-
-
84891789597
-
Natural history of vestibular schwannoma growth and hearing decline in newly diagnosed neurofibromatosis type 2 patients
-
Plotkin SR, Merker VL, Muzikansky A, Barker FG, Slattery W III. 2014. Natural history of vestibular schwannoma growth and hearing decline in newly diagnosed neurofibromatosis type 2 patients. Otol Neurotol 35:e50-e56.
-
(2014)
Otol Neurotol
, vol.35
, pp. e50-e56
-
-
Plotkin, S.R.1
Merker, V.L.2
Muzikansky, A.3
Barker, F.G.4
Slattery III, W.5
-
27
-
-
84875457935
-
Reduced microglial CX3CR1 expression delays neurofibromatosis-1 glioma formation 2
-
Pong WW, Higer SB, Gianino SM, Emnett RJ, Gutmann DH. 2013. Reduced microglial CX3CR1 expression delays neurofibromatosis-1 glioma formation 2. Ann Neurol 73:303-308.
-
(2013)
Ann Neurol
, vol.73
, pp. 303-308
-
-
Pong, W.W.1
Higer, S.B.2
Gianino, S.M.3
Emnett, R.J.4
Gutmann, D.H.5
-
28
-
-
77952521051
-
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle
-
Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN. 2010. Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Hum Mol Genet 19:1335-1346.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1335-1346
-
-
Quinlan, K.G.1
Seto, J.T.2
Turner, N.3
Vandebrouck, A.4
Floetenmeyer, M.5
Macarthur, D.G.6
Raftery, J.M.7
Lek, M.8
Yang, N.9
Parton, R.G.10
Cooney, G.J.11
North, K.N.12
-
30
-
-
84875648923
-
Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy
-
Schulz A, Baader SL, Niwa-Kawakita M, Jung MJ, Bauer R, Garcia C, Zoch A, Schacke S, Hagel C, Mautner VF, Hanemann CO, Dun XP, Parkinson DB, Weis J, Schroder JM, Gutmann DH, Giovannini M, Morrison H. 2013. Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy. Nat Neurosci 16:426-433.
-
(2013)
Nat Neurosci
, vol.16
, pp. 426-433
-
-
Schulz, A.1
Baader, S.L.2
Niwa-Kawakita, M.3
Jung, M.J.4
Bauer, R.5
Garcia, C.6
Zoch, A.7
Schacke, S.8
Hagel, C.9
Mautner, V.F.10
Hanemann, C.O.11
Dun, X.P.12
Parkinson, D.B.13
Weis, J.14
Schroder, J.M.15
Gutmann, D.H.16
Giovannini, M.17
Morrison, H.18
-
31
-
-
0036233628
-
Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2
-
Sperfeld AD, Hein C, Schroder JM, Ludolph AC, Hanemann CO. 2002. Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain 125:996-1004.
-
(2002)
Brain
, vol.125
, pp. 996-1004
-
-
Sperfeld, A.D.1
Hein, C.2
Schroder, J.M.3
Ludolph, A.C.4
Hanemann, C.O.5
-
32
-
-
84865310322
-
Peripheral muscle weakness in RASopathies
-
Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA. 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
Reinker, K.11
Johnson, B.12
Rauen, K.A.13
-
33
-
-
84894057845
-
NF1 is a critical regulator of muscle development and metabolism 1
-
Sullivan K, El-Hoss J, Quinlan KG, Deo N, Garton F, Seto JT, Gdalevitch M, Turner N, Cooney GJ, Kolanczyk M, North KN, Little DG, Schindeler A. 2014. NF1 is a critical regulator of muscle development and metabolism 1. Hum Mol Genet 23:1250-1259.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 1250-1259
-
-
Sullivan, K.1
El-Hoss, J.2
Quinlan, K.G.3
Deo, N.4
Garton, F.5
Seto, J.T.6
Gdalevitch, M.7
Turner, N.8
Cooney, G.J.9
Kolanczyk, M.10
North, K.N.11
Little, D.G.12
Schindeler, A.13
-
34
-
-
84881147248
-
Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2
-
Tanaka K, Eskin A, Chareyre F, Jessen WJ, Manent J, Niwa-Kawakita M, Chen R, White CH, Vitte J, Jaffer ZM, Nelson SF, Rubenstein AE, Giovannini M. 2013. Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2. Clin Cancer Res 19:3856-3870.
-
(2013)
Clin Cancer Res
, vol.19
, pp. 3856-3870
-
-
Tanaka, K.1
Eskin, A.2
Chareyre, F.3
Jessen, W.J.4
Manent, J.5
Niwa-Kawakita, M.6
Chen, R.7
White, C.H.8
Vitte, J.9
Jaffer, Z.M.10
Nelson, S.F.11
Rubenstein, A.E.12
Giovannini, M.13
-
36
-
-
84885389443
-
Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): A randomised, placebo-controlled trial
-
van der Vaart T, Plasschaert E, Rietman AB, Renard M, Oostenbrink R, Vogels A, de Wit MC, Descheemaeker MJ, Vergouwe Y, Catsman-Berrevoets CE, Legius E, Elgersma Y, Moll HA. 2013. Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): A randomised, placebo-controlled trial. Lancet Neurol 12:1076-1083.
-
(2013)
Lancet Neurol
, vol.12
, pp. 1076-1083
-
-
van der Vaart, T.1
Plasschaert, E.2
Rietman, A.B.3
Renard, M.4
Oostenbrink, R.5
Vogels, A.6
de Wit, M.C.7
Descheemaeker, M.J.8
Vergouwe, Y.9
Catsman-Berrevoets, C.E.10
Legius, E.11
Elgersma, Y.12
Moll, H.A.13
-
37
-
-
84872535697
-
Understanding relationships between autism, intelligence, and epilepsy: A cross-disorder approach
-
van Eeghen AM, Pulsifer MB, Merker VL, Neumeyer AM, van Eeghen EE, Thibert RL, Cole AJ, Leigh FA, Plotkin SR, Thiele EA. 2013. Understanding relationships between autism, intelligence, and epilepsy: A cross-disorder approach. Dev Med Child Neurol 55:146-153.
-
(2013)
Dev Med Child Neurol
, vol.55
, pp. 146-153
-
-
van Eeghen, A.M.1
Pulsifer, M.B.2
Merker, V.L.3
Neumeyer, A.M.4
van Eeghen, E.E.5
Thibert, R.L.6
Cole, A.J.7
Leigh, F.A.8
Plotkin, S.R.9
Thiele, E.A.10
-
38
-
-
84874824926
-
GABA deficit in the visual cortex of patients with neurofibromatosis type 1: Genotype-phenotype correlations and functional impact
-
Violante IR, Ribeiro MJ, Edden RA, Guimaraes P, Bernardino I, Rebola J, Cunha G, Silva E, Castelo-Branco M. 2013. GABA deficit in the visual cortex of patients with neurofibromatosis type 1: Genotype-phenotype correlations and functional impact. Brain 136:918-925.
-
(2013)
Brain
, vol.136
, pp. 918-925
-
-
Violante, I.R.1
Ribeiro, M.J.2
Edden, R.A.3
Guimaraes, P.4
Bernardino, I.5
Rebola, J.6
Cunha, G.7
Silva, E.8
Castelo-Branco, M.9
-
39
-
-
84872586282
-
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1
-
Walsh KS, Velez JI, Kardel PG, Imas DM, Muenke M, Packer RJ, Castellanos FX, Acosta MT. 2013. Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol 55:131-138.
-
(2013)
Dev Med Child Neurol
, vol.55
, pp. 131-138
-
-
Walsh, K.S.1
Velez, J.I.2
Kardel, P.G.3
Imas, D.M.4
Muenke, M.5
Packer, R.J.6
Castellanos, F.X.7
Acosta, M.T.8
-
40
-
-
84901725467
-
Sirolimus for non-progressive NF1-associated plexiform neurofibromas: An NF clinical trials consortium phase II study
-
Weiss B, Widemann BC, Wolters P, Dombi E, Vinks AA, Cantor A, Korf B, Perentesis J, Gutmann DH, Schorry E, Packer R, Fisher MJ. 2013. Sirolimus for non-progressive NF1-associated plexiform neurofibromas: An NF clinical trials consortium phase II study. Pediatr Blood Cancer 61:982-986.
-
(2013)
Pediatr Blood Cancer
, vol.61
, pp. 982-986
-
-
Weiss, B.1
Widemann, B.C.2
Wolters, P.3
Dombi, E.4
Vinks, A.A.5
Cantor, A.6
Korf, B.7
Perentesis, J.8
Gutmann, D.H.9
Schorry, E.10
Packer, R.11
Fisher, M.J.12
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