-
1
-
-
56649086638
-
Hand involvement in children with Charcot-Marie-Tooth disease type 1A
-
Burns J, Bray P, Cross L, North KN, Ryan MM, Ouvrier RA, (2008). Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord 18: 970-973.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 970-973
-
-
Burns, J.1
Bray, P.2
Cross, L.3
North, K.N.4
Ryan, M.M.5
Ouvrier, R.A.6
-
2
-
-
65549159213
-
Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: A randomised, double-blind, placebo-controlled, safety and efficacy trial
-
Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, Ryan MM, (2009a). Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol 8: 537-544.
-
(2009)
Lancet Neurol
, vol.8
, pp. 537-544
-
-
Burns, J.1
Ouvrier, R.A.2
Yiu, E.M.3
Joseph, P.D.4
Kornberg, A.J.5
Fahey, M.C.6
Ryan, M.M.7
-
3
-
-
60549084532
-
Evolution of foot and ankle manifestations in children with CMT1A
-
Burns J, Ryan MM, Ouvrier RA, (2009b). Evolution of foot and ankle manifestations in children with CMT1A. Muscle Nerve 39: 158-166.
-
(2009)
Muscle Nerve
, vol.39
, pp. 158-166
-
-
Burns, J.1
Ryan, M.M.2
Ouvrier, R.A.3
-
4
-
-
77957936037
-
Determinants of reduced health-related quality of life in pediatric inherited neuropathies
-
Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA, (2010). Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Neurology 75: 726-731.
-
(2010)
Neurology
, vol.75
, pp. 726-731
-
-
Burns, J.1
Ramchandren, S.2
Ryan, M.M.3
Shy, M.4
Ouvrier, R.A.5
-
5
-
-
0031031995
-
Patients homozygous for the 17p11.2 Duplication in charcot-marie-tooth type 1a disease
-
DOI 10.1002/ana.410410117
-
LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A, (1997). Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann Neurol 41: 104-108. (Pubitemid 27057099)
-
(1997)
Annals of Neurology
, vol.41
, Issue.1
, pp. 104-108
-
-
LeGuern, E.1
Gouider, R.2
Mabin, D.3
Tardieu, S.4
Birouk, N.5
Parent, P.6
Bouche, P.7
Brice, A.8
-
6
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI, (1991). DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219-232. (Pubitemid 121001361)
-
(1991)
Cell
, vol.66
, Issue.2
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
Chakravarti, A.11
Patel, P.I.12
-
7
-
-
72149100190
-
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: A multicentre, randomised, double-blind, placebo-controlled trial
-
Micallef J, Attarian S, Dubourg O, Gonnaud PM, Hogrel JY, Stojkovic T, Bernard R, Jouve E, Pitel S, Vacherot F, Remec JF, Jomir L, Azabou E, Al-Moussawi M, Lefebvre MN, Attolini L, Yaici S, Tanesse D, Fontes M, Pouget J, Blin O, (2009). Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol 8: 1103-1110.
-
(2009)
Lancet Neurol
, vol.8
, pp. 1103-1110
-
-
Micallef, J.1
Attarian, S.2
Dubourg, O.3
Gonnaud, P.M.4
Hogrel, J.Y.5
Stojkovic, T.6
Bernard, R.7
Jouve, E.8
Pitel, S.9
Vacherot, F.10
Remec, J.F.11
Jomir, L.12
Azabou, E.13
Al-Moussawi, M.14
Lefebvre, M.N.15
Attolini, L.16
Yaici, S.17
Tanesse, D.18
Fontes, M.19
Pouget, J.20
Blin, O.21
more..
-
8
-
-
79952736703
-
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): A double-blind randomised trial
-
Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Radice D, Calabrese D, Hughes RAC, Solari A, (2011). Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 10: 320-328.
-
(2011)
Lancet Neurol
, vol.10
, pp. 320-328
-
-
Pareyson, D.1
Reilly, M.M.2
Schenone, A.3
Fabrizi, G.M.4
Cavallaro, T.5
Santoro, L.6
Vita, G.7
Quattrone, A.8
Padua, L.9
Gemignani, F.10
Visioli, F.11
Laurà, M.12
Radice, D.13
Calabrese, D.14
Hughes, R.A.C.15
Solari, A.16
-
9
-
-
1942422646
-
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
-
DOI 10.1038/nm1023
-
Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, Fontes M, (2004). Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 10: 396-401. (Pubitemid 38508518)
-
(2004)
Nature Medicine
, vol.10
, Issue.4
, pp. 396-401
-
-
Passage, E.1
Norreel, J.C.2
Noack-Fraissignes, P.3
Sanguedolce, V.4
Pizant, J.5
Thirion, X.6
Robaglia-Schlupp, A.7
Pellissier, J.F.8
Fontes, M.9
-
10
-
-
0030785663
-
Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (Type 1A) disease
-
Sturtz F, Latour P, Mocquard Y, Cruz S, Fenoll B, LeFur JM, Mabin D, Chazot G, Vandenberghe A, (1997). Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (Type 1A) disease. Eur Neurol 38: 26-30. (Pubitemid 27283075)
-
(1997)
European Neurology
, vol.38
, Issue.1
, pp. 26-30
-
-
Sturtz, F.G.1
Latour, P.2
Mocquard, Y.3
Cruz, S.4
Fenoll, B.5
Lefur, J.M.6
Mabin, D.7
Chazot, G.8
Vandenberghe, A.9
-
11
-
-
71049172916
-
Oral high dose ascorbic acid treatment for one year in young CMT1A patients: A randomised, double-blind, placebo-controlled phase II trial
-
Verhamme C, de Haan R, Vermeulen M, Baas F, de Visser M, van Schaik I, (2009). Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial. BMC Medicine 7: 70.
-
(2009)
BMC Medicine
, vol.7
, pp. 70
-
-
Verhamme, C.1
De Haan, R.2
Vermeulen, M.3
Baas, F.4
De Visser, M.5
Van Schaik, I.6
-
12
-
-
77949654002
-
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease
-
Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F, (2010). Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. Eur J Hum Genet 18: 421-428.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 421-428
-
-
Weterman, M.A.1
Van Ruissen, F.2
De Wissel, M.3
Bordewijk, L.4
Samijn, J.P.5
Van Der Pol, W.L.6
Meggouh, F.7
Baas, F.8
-
13
-
-
52949139073
-
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A
-
Yiu E, Burns J, Ryan MM, Ouvrier RA, (2008). Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. J Peripher Nerv Syst 13: 236-241.
-
(2008)
J Peripher Nerv Syst
, vol.13
, pp. 236-241
-
-
Yiu, E.1
Burns, J.2
Ryan, M.M.3
Ouvrier, R.A.4
-
14
-
-
67649878596
-
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
-
Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR, (2009). The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41: 849-853.
-
(2009)
Nat Genet
, vol.41
, pp. 849-853
-
-
Zhang, F.1
Khajavi, M.2
Connolly, A.M.3
Towne, C.F.4
Batish, S.D.5
Lupski, J.R.6
-
15
-
-
77953232121
-
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: Rare CNVs as a cause for missing heritability
-
Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR, (2010). Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet 86: 892-903.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 892-903
-
-
Zhang, F.1
Seeman, P.2
Liu, P.3
Weterman, M.A.4
Gonzaga-Jauregui, C.5
Towne, C.F.6
Batish, S.D.7
De Vriendt, E.8
De Jonghe, P.9
Rautenstrauss, B.10
Krause, K.H.11
Khajavi, M.12
Posadka, J.13
Vandenberghe, A.14
Palau, F.15
Van Maldergem, L.16
Baas, F.17
Timmerman, V.18
Lupski, J.R.19
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