-
2
-
-
18544385024
-
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 2002 30 : 21 2.
-
(2002)
Nat Genet.
, vol.30
, pp. 21-2
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
Stajich, J.E.4
Hulette, C.5
Dew-Knight, S.6
Hentati, F.7
Ben Hamida, M.8
Bel, S.9
Stenger, J.E.10
Gilbert, J.R.11
Pericak-Vance, M.A.12
Vance, J.M.13
-
3
-
-
18544388962
-
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
-
Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet. 2002 30 : 22 5.
-
(2002)
Nat Genet.
, vol.30
, pp. 22-5
-
-
Cuesta, A.1
Pedrola, L.2
Sevilla, T.3
García-Planells, J.4
Chumillas, M.J.5
Mayordomo, F.6
Leguern, E.7
Marín, I.8
Vílchez, J.J.9
Palau, F.10
-
4
-
-
1242306935
-
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes
-
Marco A, Cuesta A, Pedrola L, Palau F, Marin I. Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. Mol Biol Evol. 2004 21 : 176 87.
-
(2004)
Mol Biol Evol.
, vol.21
, pp. 176-87
-
-
Marco, A.1
Cuesta, A.2
Pedrola, L.3
Palau, F.4
Marin, I.5
-
5
-
-
17744376804
-
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
-
Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet. 2005 14 : 1087 94.
-
(2005)
Hum Mol Genet.
, vol.14
, pp. 1087-94
-
-
Pedrola, L.1
Espert, A.2
Wu, X.3
Claramunt, R.4
Shy, M.E.5
Palau, F.6
-
6
-
-
33746353696
-
Functional characterisation of ganglioside-induced differentiation- associated protein 1 as a glutathione transferase
-
Shield AJ, Murray TP, Board PG. Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase. Biochem Biophys Res Commun. 2006 347 : 859 66.
-
(2006)
Biochem Biophys Res Commun.
, vol.347
, pp. 859-66
-
-
Shield, A.J.1
Murray, T.P.2
Board, P.G.3
-
7
-
-
25444514731
-
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: New implications for Charcot-Marie-Tooth disease
-
Niemann A, Ruegg M, La Padula V, Schenone A, Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol. 2005 170 : 1067 78.
-
(2005)
J Cell Biol.
, vol.170
, pp. 1067-78
-
-
Niemann, A.1
Ruegg, M.2
La Padula, V.3
Schenone, A.4
Suter, U.5
-
8
-
-
0027491703
-
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
-
Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, Pericak-Vance MA, Ben Hamida M, Vance JM. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet. 1993 2 : 1625 8.
-
(1993)
Hum Mol Genet.
, vol.2
, pp. 1625-8
-
-
Ben Othmane, K.1
Hentati, F.2
Lennon, F.3
Ben Hamida, C.4
Blel, S.5
Roses, A.D.6
Pericak-Vance, M.A.7
Ben Hamida, M.8
Vance, J.M.9
-
9
-
-
0029128280
-
Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A
-
Othmane KB, Loeb D, Hayworth-Hodgte R, Hentati F, Rao N, Roses AD, Ben Hamida M, Pericak-Vance MA, Vance JM. Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics. 1995 28 : 286 90.
-
(1995)
Genomics.
, vol.28
, pp. 286-90
-
-
Othmane, K.B.1
Loeb, D.2
Hayworth-Hodgte, R.3
Hentati, F.4
Rao, N.5
Roses, A.D.6
Ben Hamida, M.7
Pericak-Vance, M.A.8
Vance, J.M.9
-
11
-
-
5444240224
-
Autosomal recessive forms of Charcot-Marie-Tooth disease
-
Vallat JM, Grid D, Magdelaine C, Sturtz F, Tazir M. Autosomal recessive forms of Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep. 2004 4 : 413 9.
-
(2004)
Curr Neurol Neurosci Rep.
, vol.4
, pp. 413-9
-
-
Vallat, J.M.1
Grid, D.2
Magdelaine, C.3
Sturtz, F.4
Tazir, M.5
-
12
-
-
0141833983
-
Disease mechanisms in inherited neuropathies
-
Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003 4 : 714 26.
-
(2003)
Nat Rev Neurosci.
, vol.4
, pp. 714-26
-
-
Suter, U.1
Scherer, S.S.2
-
13
-
-
20244374986
-
Genetics of Charcot-Marie-Tooth disease type 4A: Mutations, inheritance, phenotypic variability, and founder effect
-
Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet. 2005 42 : 358 65.
-
(2005)
J Med Genet.
, vol.42
, pp. 358-65
-
-
Claramunt, R.1
Pedrola, L.2
Sevilla, T.3
López De Munain, A.4
Berciano, J.5
Cuesta, A.6
Sánchez-Navarro, B.7
Millán, J.M.8
Saifi, G.M.9
Lupski, J.R.10
Vílchez, J.J.11
Espinós, C.12
Palau, F.13
-
14
-
-
0027330994
-
P75-deficient trigeminal sensory neurons have an altered response to NGF but not to other neurotrophins
-
Davies AM, Lee KF, Jaenisch R. p75-deficient trigeminal sensory neurons have an altered response to NGF but not to other neurotrophins. Neuron. 1993 11 : 565 74.
-
(1993)
Neuron.
, vol.11
, pp. 565-74
-
-
Davies, A.M.1
Lee, K.F.2
Jaenisch, R.3
-
15
-
-
0041821401
-
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
-
Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain. 2003 126 : 2023 33.
-
(2003)
Brain.
, vol.126
, pp. 2023-33
-
-
Sevilla, T.1
Cuesta, A.2
Chumillas, M.J.3
Mayordomo, F.4
Pedrola, L.5
Palau, F.6
Vílchez, J.J.7
-
16
-
-
0041525496
-
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
-
Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul Disord. 2003 13 : 341 6.
-
(2003)
Neuromuscul Disord.
, vol.13
, pp. 341-6
-
-
Azzedine, H.1
Ruberg, M.2
Ente, D.3
Gilardeau, C.4
Périé, S.5
Wechsler, B.6
Brice, A.7
Leguern, E.8
Dubourg, O.9
-
17
-
-
0037371253
-
CMT4A: Identification of a Hispanic GDAP1 founder mutation
-
Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR. CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol. 2003 53 : 400 5.
-
(2003)
Ann Neurol.
, vol.53
, pp. 400-5
-
-
Boerkoel, C.F.1
Takashima, H.2
Nakagawa, M.3
Izumo, S.4
Armstrong, D.5
Butler, I.6
Mancias, P.7
Papasozomenos, S.C.8
Stern, L.Z.9
Lupski, J.R.10
-
18
-
-
0037168759
-
Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy
-
Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology. 2002 59 : 1865 72.
-
(2002)
Neurology.
, vol.59
, pp. 1865-72
-
-
Nelis, E.1
Erdem, S.2
Van Den Bergh, P.Y.3
Belpaire-Dethiou, M.C.4
Ceuterick, C.5
Van Gerwen, V.6
Cuesta, A.7
Pedrola, L.8
Palau, F.9
Gabreëls-Festen, A.A.10
Verellen, C.11
Tan, E.12
Demirci, M.13
Van Broeckhoven, C.14
De Jonghe, P.15
Topaloglu, H.16
Timmerman, V.17
-
19
-
-
0042207076
-
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
-
De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Lévy N, Mégarbané A. Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations. J Med Genet. 2003 40 : e87.
-
(2003)
J Med Genet.
, vol.40
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Boccaccio, I.3
Bernard, R.4
Delague, V.5
Grid, D.6
Vallat, J.M.7
Lévy, N.8
Mégarbané, A.9
-
20
-
-
0037370916
-
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
-
Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain. 2003 126 : 642 9.
-
(2003)
Brain.
, vol.126
, pp. 642-9
-
-
Senderek, J.1
Bergmann, C.2
Ramaekers, V.T.3
Nelis, E.4
Bernert, G.5
Makowski, A.6
Züchner, S.7
De Jonghe, P.8
Rudnik-Schöneborn, S.9
Zerres, K.10
Schröder, J.M.11
-
21
-
-
33750445482
-
Mitochondrial fusion and fission in mammals
-
Chan DC. Mitochondrial fusion and fission in mammals. Annu Rev Cell Dev Biol. 2006 22 : 79 99.
-
(2006)
Annu Rev Cell Dev Biol.
, vol.22
, pp. 79-99
-
-
Chan, D.C.1
-
22
-
-
2142758117
-
Mitochondrial dynamics in mammals
-
Chen H, Chan DC. Mitochondrial dynamics in mammals. Curr Top Dev Biol. 2004 59 : 119 44.
-
(2004)
Curr Top Dev Biol.
, vol.59
, pp. 119-44
-
-
Chen, H.1
Chan, D.C.2
-
23
-
-
33745268197
-
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease
-
Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006 8 : 217 42.
-
(2006)
Neuromolecular Med.
, vol.8
, pp. 217-42
-
-
Niemann, A.1
Berger, P.2
Suter, U.3
-
24
-
-
0141956367
-
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
-
Ammar N, Nelis E, Merlini L, Barisi N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscul Disord. 2003 13 : 720 8.
-
(2003)
Neuromuscul Disord.
, vol.13
, pp. 720-8
-
-
Ammar, N.1
Nelis, E.2
Merlini, L.3
Barisi, N.4
Amouri, R.5
Ceuterick, C.6
Martin, J.J.7
Timmerman, V.8
Hentati, F.9
De Jonghe, P.10
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