-
1
-
-
0141956367
-
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
-
Ammar, N., E. Nelis, L. Merlini, N. Barisic, R. Amouri, C. Ceuterick, J.J. Martin, V. Timmerman, F. Hentati, and P. De Jonghe. 2003. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscul. Disord. 13:720-728.
-
(2003)
Neuromuscul. Disord.
, vol.13
, pp. 720-728
-
-
Ammar, N.1
Nelis, E.2
Merlini, L.3
Barisic, N.4
Amouri, R.5
Ceuterick, C.6
Martin, J.J.7
Timmerman, V.8
Hentati, F.9
De Jonghe, P.10
-
2
-
-
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., M. Ruberg, D. Ente, C. Gilardeau, S. Perie, B. Wechsler, A. Brice, E. LeGuern, and O. Dubourg. 2003. 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. 13:341-346.
-
(2003)
Neuromuscul. Disord.
, vol.13
, pp. 341-346
-
-
Azzedine, H.1
Ruberg, M.2
Ente, D.3
Gilardeau, C.4
Perie, S.5
Wechsler, B.6
Brice, A.7
LeGuern, E.8
Dubourg, O.9
-
3
-
-
0037593949
-
Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity
-
Bach, D., S. Pich, F.X. Soriano, N. Vega, B. Baumgartner, J. Oriola, J.R. Daugaard, J. Lloberas, M. Camps, J.R. Zierath, et al. 2003. Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity. J. Biol. Chem. 278:17190-17197.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 17190-17197
-
-
Bach, D.1
Pich, S.2
Soriano, F.X.3
Vega, N.4
Baumgartner, B.5
Oriola, J.6
Daugaard, J.R.7
Lloberas, J.8
Camps, M.9
Zierath, J.R.10
-
4
-
-
18544385024
-
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter, R.V., K. Ben Othmane, J.M. Rochelle, J.E. Stajich, C. Hulette, S. DewKnight, F. Hentati, M. Ben Hamida, S. Bel, J.E. Stenger, et al. 2002. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat. Genet. 30:21-22.
-
(2002)
Nat. Genet.
, vol.30
, pp. 21-22
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
Stajich, J.E.4
Hulette, C.5
DewKnight, S.6
Hentati, F.7
Ben Hamida, M.8
Bel, S.9
Stenger, J.E.10
-
5
-
-
5144232019
-
Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom
-
Berger, P., E.E. Sirkowski, S.S. Scherer, and U. Suter. 2004. Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom. Neurobiol. Dis. 17:290-299.
-
(2004)
Neurobiol. Dis.
, vol.17
, pp. 290-299
-
-
Berger, P.1
Sirkowski, E.E.2
Scherer, S.S.3
Suter, U.4
-
6
-
-
0036524611
-
Molecular cell biology of Charcot-Marie-Tooth disease
-
Berger, P., P. Young, and U. Suter. 2002. Molecular cell biology of Charcot-Marie-Tooth disease. Neurogenetics. 4:1-15.
-
(2002)
Neurogenetics
, vol.4
, pp. 1-15
-
-
Berger, P.1
Young, P.2
Suter, U.3
-
7
-
-
0037371253
-
CMT4A: Identification of a Hispanic GDAP1 founder mutation
-
Boerkoel, C.F., H. Takashima, M. Nakagawa, S. Izumo, D. Armstrong, I. Butler, P. Mancias, S.C. Papasozomenos, L.Z. Stern, and J.R. Lupski. 2003. CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann. Neurol. 53:400-405.
-
(2003)
Ann. Neurol.
, vol.53
, pp. 400-405
-
-
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
-
8
-
-
0344413426
-
Mitochondrial fission in apoptosis, neurodegeneration and aging
-
Bossy-Wetzel, E., M.J. Barsoum, A. Godzik, R. Schwarzenbacher, and S.A. Lipton. 2003. Mitochondrial fission in apoptosis, neurodegeneration and aging. Curr. Opin. Cell Biol. 15:706-716.
-
(2003)
Curr. Opin. Cell Biol.
, vol.15
, pp. 706-716
-
-
Bossy-Wetzel, E.1
Barsoum, M.J.2
Godzik, A.3
Schwarzenbacher, R.4
Lipton, S.A.5
-
9
-
-
0036898006
-
Peripheral neuropathy associated with mitochondrial disorders: 8 Cases and review of the literature
-
Bouillot, S., M.L. Martin-Negrier, A. Vital, X. Ferrer, A. Lagueny, D. Vincent, M. Coquet, J.M. Orgogozo, B. Bloch, and C. Vita. 2002. Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature. J. Peripher. Nerv. Syst. 7:213-220.
-
(2002)
J. Peripher. Nerv. Syst.
, vol.7
, pp. 213-220
-
-
Bouillot, S.1
Martin-Negrier, M.L.2
Vital, A.3
Ferrer, X.4
Lagueny, A.5
Vincent, D.6
Coquet, M.7
Orgogozo, J.M.8
Bloch, B.9
Vita, C.10
-
10
-
-
12944333066
-
Induction of mitochondrial fusion by cysteine-alkylators ethacrynic acid and N-ethylmaleimide
-
Bowes, T.J., and R.S. Gupta. 2005. Induction of mitochondrial fusion by cysteine-alkylators ethacrynic acid and N-ethylmaleimide. J. Cell Physiol. 202:796-804.
-
(2005)
J. Cell Physiol.
, vol.202
, pp. 796-804
-
-
Bowes, T.J.1
Gupta, R.S.2
-
11
-
-
0018381233
-
Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve
-
Brockes, J.P., K.L. Fields, and M.C. Raff. 1979. Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve. Brain Res. 165:105-118.
-
(1979)
Brain Res.
, vol.165
, pp. 105-118
-
-
Brockes, J.P.1
Fields, K.L.2
Raff, M.C.3
-
12
-
-
0028510622
-
Use of fluorescent probes to investigate the metabolic state of Pneumocystis carinii mitochondria
-
Chen, F., and M.T. Cushion. 1994. Use of fluorescent probes to investigate the metabolic state of Pneumocystis carinii mitochondria. J. Eukaryot. Microbiol. 41:79S.
-
(1994)
J. Eukaryot. Microbiol.
, vol.41
-
-
Chen, F.1
Cushion, M.T.2
-
13
-
-
2142758117
-
Mitochondrial dynamics in mammals
-
Chen, H., and D.C. Chan. 2004. Mitochondrial dynamics in mammals. Curr. Top. Dev. Biol. 59:119-144.
-
(2004)
Curr. Top. Dev. Biol.
, vol.59
, pp. 119-144
-
-
Chen, H.1
Chan, D.C.2
-
14
-
-
0037455575
-
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
-
Chen, H., S.A. Detmer, A.J. Ewald, E.E. Griffin, S.E. Fraser, and D.C. Chan. 2003. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J. Cell Biol. 160:189-200.
-
(2003)
J. Cell Biol.
, vol.160
, pp. 189-200
-
-
Chen, H.1
Detmer, S.A.2
Ewald, A.J.3
Griffin, E.E.4
Fraser, S.E.5
Chan, D.C.6
-
15
-
-
0027374638
-
A new method for the cytofluorimetric analysis of mitochondrial membrane potential using the J-aggregate forming lipophilic cation 5,5′,6,6′- tetrachloro-1,1′,3,3′-tetraethylbenzimidazolcarbocyanine iodide (JC-1)
-
Cossarizza, A., M. Baccarani-Contri, G. Kalashnikova, and C. Franceschi. 1993. A new method for the cytofluorimetric analysis of mitochondrial membrane potential using the J-aggregate forming lipophilic cation 5,5′,6,6′- tetrachloro-1,1′,3,3′-tetraethylbenzimidazolcarbocyanine iodide (JC-1). Biochem. Biophys. Res. Commun. 197:40-45.
-
(1993)
Biochem. Biophys. Res. Commun.
, vol.197
, pp. 40-45
-
-
Cossarizza, A.1
Baccarani-Contri, M.2
Kalashnikova, G.3
Franceschi, C.4
-
16
-
-
18544388962
-
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
-
Cuesta, A., L. Pedrola, T. Sevilla, J. Garcia-Planells, M.J. Chumillas, F. Mayordomo, E. LeGuern, I. Marin, J.J. Vilchez, and F. Palau. 2002. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat. Genet. 30:22-25.
-
(2002)
Nat. Genet.
, vol.30
, pp. 22-25
-
-
Cuesta, A.1
Pedrola, L.2
Sevilla, T.3
Garcia-Planells, J.4
Chumillas, M.J.5
Mayordomo, F.6
LeGuern, E.7
Marin, I.8
Vilchez, J.J.9
Palau, F.10
-
17
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre, C., G. Lenaers, J.M. Griffoin, N. Gigarel, C. Lorenzo, P. Belenguer, L. Pelloquin, J. Grosgeorge, C. Turc-Carel, E. Perret, et al. 2000. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 26:207-210.
-
(2000)
Nat. Genet.
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
Pelloquin, L.7
Grosgeorge, J.8
Turc-Carel, C.9
Perret, E.10
-
18
-
-
4644299868
-
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: Evidence for a founder effect
-
Di Maria, E., R. Gulli, P. Balestra, D. Cassandrini, S. Pigullo, L. Doria-Lamba, M. Bado, A. Schenone, F. Ajmar, P. Mandich, and E. Bellone. 2004. A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect. J. Neurol. Neurosurg. Psychiatry. 75:1495-1498.
-
(2004)
J. Neurol. Neurosurg. Psychiatry
, vol.75
, pp. 1495-1498
-
-
Di Maria, E.1
Gulli, R.2
Balestra, P.3
Cassandrini, D.4
Pigullo, S.5
Doria-Lamba, L.6
Bado, M.7
Schenone, A.8
Ajmar, F.9
Mandich, P.10
Bellone, E.11
-
19
-
-
1642341366
-
Mitochondriopathies
-
Finsterer, J. 2004. Mitochondriopathies. Eur. J. Neurol. 11:163-186.
-
(2004)
Eur. J. Neurol.
, vol.11
, pp. 163-186
-
-
Finsterer, J.1
-
20
-
-
0033040623
-
Action of thyroid hormones at the cellular level: The mitochondrial target
-
Goglia, F., M. Moreno, and A. Lanni. 1999. Action of thyroid hormones at the cellular level: the mitochondrial target. FEBS Lett. 452:115-120.
-
(1999)
FEBS Lett.
, vol.452
, pp. 115-120
-
-
Goglia, F.1
Moreno, M.2
Lanni, A.3
-
21
-
-
68949211611
-
Isolation of mitochondria from tissues and cells by differential centrifugation
-
J.S. Bonifacino, J.B. Harford, J. Lippincott-Schwartz, and K.M. Yamada, editors. Wiley InterScience, New York
-
Graham, J.M. 2004. Isolation of mitochondria from tissues and cells by differential centrifugation. In Current Protocols in Cell Biology. J.S. Bonifacino, J.B. Harford, J. Lippincott-Schwartz, and K.M. Yamada, editors. Wiley InterScience, New York. 3.3.2.
-
(2004)
Current Protocols in Cell Biology
-
-
Graham, J.M.1
-
22
-
-
0242268107
-
Stage-specific enhanced expression of mitochondrial fusion and fission factors during spermatogenesis in rat testis
-
Honda, S., and S. Hirose. 2003. Stage-specific enhanced expression of mitochondrial fusion and fission factors during spermatogenesis in rat testis. Biochem. Biophys. Res. Commun. 311:424-432.
-
(2003)
Biochem. Biophys. Res. Commun.
, vol.311
, pp. 424-432
-
-
Honda, S.1
Hirose, S.2
-
23
-
-
0141592470
-
hFis1, a novel component of the mammalian mitochondrial fission machinery
-
James, D.I., P.A. Parone, Y. Mattenberger, and J.C. Martinou. 2003. hFis1, a novel component of the mammalian mitochondrial fission machinery. J. Biol. Chem. 278:36373-36379.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 36373-36379
-
-
James, D.I.1
Parone, P.A.2
Mattenberger, Y.3
Martinou, J.C.4
-
24
-
-
3843075121
-
Structural basis of mitochondrial tethering by mitofusin complexes
-
Koshiba, T., S.A. Detmer, J.T. Kaiser, H. Chen, J.M. McCaffery, and D.C. Chan. 2004. Structural basis of mitochondrial tethering by mitofusin complexes. Science. 305:858-862.
-
(2004)
Science
, vol.305
, pp. 858-862
-
-
Koshiba, T.1
Detmer, S.A.2
Kaiser, J.T.3
Chen, H.4
McCaffery, J.M.5
Chan, D.C.6
-
25
-
-
0027401769
-
A class of membrane proteins with a C-terminal anchor
-
Kutay, U., E. Hartmann, and T.A. Rapoport. 1993. A class of membrane proteins with a C-terminal anchor. Trends Cell Biol. 3:72-75.
-
(1993)
Trends Cell Biol.
, vol.3
, pp. 72-75
-
-
Kutay, U.1
Hartmann, E.2
Rapoport, T.A.3
-
26
-
-
6344274848
-
Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis
-
Lee, Y.J., S.Y. Jeong, M. Karbowski, C.L. Smith, and R.J. Youle. 2004. Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis. Mol. Biol. Cell. 15:5001-5011.
-
(2004)
Mol. Biol. Cell
, vol.15
, pp. 5001-5011
-
-
Lee, Y.J.1
Jeong, S.Y.2
Karbowski, M.3
Smith, C.L.4
Youle, R.J.5
-
27
-
-
0036906665
-
Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins
-
Legros, F., A. Lombes, P. Frachon, and M. Rojo. 2002. Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins. Mol. Biol. Cell. 13:4343-4354.
-
(2002)
Mol. Biol. Cell
, vol.13
, pp. 4343-4354
-
-
Legros, F.1
Lombes, A.2
Frachon, P.3
Rojo, M.4
-
28
-
-
0032970896
-
Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene
-
Liu, H., T. Nakagawa, T. Kanematsu, T. Uchida, and S. Tsuji. 1999. Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene. J. Neurochem. 72:1781-1790.
-
(1999)
J. Neurochem.
, vol.72
, pp. 1781-1790
-
-
Liu, H.1
Nakagawa, T.2
Kanematsu, T.3
Uchida, T.4
Tsuji, S.5
-
29
-
-
1242306935
-
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes
-
Marco, A., A. Cuesta, L. Pedrola, F. Palau, and I. Marin. 2004. Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. Mol. Biol. Evol. 21:176-187.
-
(2004)
Mol. Biol. Evol.
, vol.21
, pp. 176-187
-
-
Marco, A.1
Cuesta, A.2
Pedrola, L.3
Palau, F.4
Marin, I.5
-
30
-
-
0037434879
-
Fusion of mitochondria in mammalian cells is dependent on the mitochondrial inner membrane potential and independent of microtubules or actin
-
Mattenberger, Y., D.I. James, and J.C. Martinou. 2003. Fusion of mitochondria in mammalian cells is dependent on the mitochondrial inner membrane potential and independent of microtubules or actin. FEBS Lett. 538:53-59.
-
(2003)
FEBS Lett.
, vol.538
, pp. 53-59
-
-
Mattenberger, Y.1
James, D.I.2
Martinou, J.C.3
-
31
-
-
4544378532
-
Mitochondrial fusion intermediates revealed in vitro
-
Meeusen, S., J.M. McCaffery, and J. Nunnari. 2004. Mitochondrial fusion intermediates revealed in vitro. Science. 305:1747-1752.
-
(2004)
Science
, vol.305
, pp. 1747-1752
-
-
Meeusen, S.1
McCaffery, J.M.2
Nunnari, J.3
-
32
-
-
0038024175
-
A fuzzy mitochondrial fusion apparatus comes into focus
-
Mozdy, A.D., and J.M. Shaw. 2003. A fuzzy mitochondrial fusion apparatus comes into focus. Nat. Rev. Mol. Cell Biol. 4:468-478.
-
(2003)
Nat. Rev. Mol. Cell Biol.
, vol.4
, pp. 468-478
-
-
Mozdy, A.D.1
Shaw, J.M.2
-
33
-
-
0037168759
-
Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy
-
Nelis, E., S. Erdem, P.Y. Van Den Bergh, M.C. Belpaire-Dethiou, C. Ceuterick, V. Van Gerwen, A. Cuesta, L. Pedrola, F. Palau, A.A. Gabreels-Festen, et al. 2002. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology. 59:1865-1872.
-
(2002)
Neurology
, vol.59
, pp. 1865-1872
-
-
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
Gabreels-Festen, A.A.10
-
34
-
-
0037125183
-
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
-
Olichon, A., L.J. Emorine, E. Descoins, L. Pelloquin, L. Brichese, N. Gas, E. Guillou, C. Delettre, A. Valette, C.P. Hamel, et al. 2002. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett. 523:171-176.
-
(2002)
FEBS Lett.
, vol.523
, pp. 171-176
-
-
Olichon, A.1
Emorine, L.J.2
Descoins, E.3
Pelloquin, L.4
Brichese, L.5
Gas, N.6
Guillou, E.7
Delettre, C.8
Valette, A.9
Hamel, C.P.10
-
35
-
-
17744376804
-
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
-
Pedrola, L., A. Espert, X. Wu, R. Claramunt, M.E. Shy, and F. Palau. 2005. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum. Mol. Genet. 14:1087-1094.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1087-1094
-
-
Pedrola, L.1
Espert, A.2
Wu, X.3
Claramunt, R.4
Shy, M.E.5
Palau, F.6
-
36
-
-
0037089084
-
Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo
-
Rojo, M., F. Legros, D. Chateau, and A. Lombes. 2002. Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. J. Cell Sci. 115:1663-1674.
-
(2002)
J. Cell Sci.
, vol.115
, pp. 1663-1674
-
-
Rojo, M.1
Legros, F.2
Chateau, D.3
Lombes, A.4
-
37
-
-
0842302344
-
Mitochondrial morphology is dynamic and varied
-
Rube, D.A., and A.M. van der Bliek. 2004. Mitochondrial morphology is dynamic and varied. Mol. Cell. Biochem. 256-257:331-339.
-
(2004)
Mol. Cell. Biochem.
, vol.256-257
, pp. 331-339
-
-
Rube, D.A.1
Van Der Bliek, A.M.2
-
38
-
-
0038783254
-
Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells
-
Santel, A., S. Frank, B. Gaume, M. Herrler, R.J. Youle, and M.T. Fuller. 2003. Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells. J. Cell Sci. 116:2763-2774.
-
(2003)
J. Cell Sci.
, vol.116
, pp. 2763-2774
-
-
Santel, A.1
Frank, S.2
Gaume, B.3
Herrler, M.4
Youle, R.J.5
Fuller, M.T.6
-
39
-
-
0035057837
-
Control of mitochondrial morphology by a human mitofusin
-
Santel, A., and M.T. Fuller. 2001. Control of mitochondrial morphology by a human mitofusin. J. Cell Sci. 114:867-874.
-
(2001)
J. Cell Sci.
, vol.114
, pp. 867-874
-
-
Santel, A.1
Fuller, M.T.2
-
40
-
-
0037370916
-
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
-
Senderek, J., C. Bergmann, V.T. Ramaekers, E. Nelis, G. Bernert, A. Makowski, S. Zuchner, P. De Jonghe, S. Rudnik-Schoneborn, K. Zerres, and J.M. Schroder. 2003. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain. 126:642-649.
-
(2003)
Brain
, vol.126
, pp. 642-649
-
-
Senderek, J.1
Bergmann, C.2
Ramaekers, V.T.3
Nelis, E.4
Bernert, G.5
Makowski, A.6
Zuchner, S.7
De Jonghe, P.8
Rudnik-Schoneborn, S.9
Zerres, K.10
Schroder, J.M.11
-
41
-
-
6944246275
-
Charcot-Marie-Tooth disease: An update
-
Shy, M.E. 2004. Charcot-Marie-Tooth disease: an update. Curr. Opin. Neurol. 17:579-585.
-
(2004)
Curr. Opin. Neurol.
, vol.17
, pp. 579-585
-
-
Shy, M.E.1
-
42
-
-
0032547754
-
A human dynamin-related protein controls the distribution of mitochondria
-
Smirnova, E., D.L. Shurland, S.N. Ryazantsev, and A.M. van der Bliek. 1998. A human dynamin-related protein controls the distribution of mitochondria. J. Cell Biol. 143:351-358.
-
(1998)
J. Cell Biol.
, vol.143
, pp. 351-358
-
-
Smirnova, E.1
Shurland, D.L.2
Ryazantsev, S.N.3
Van Der Bliek, A.M.4
-
43
-
-
0028024592
-
Regulation of mitochondrial morphology and inheritance by Mdm10p, a protein of the mitochondrial outer membrane
-
Sogo, L.F., and M.P. Yaffe. 1994. Regulation of mitochondrial morphology and inheritance by Mdm10p, a protein of the mitochondrial outer membrane. J. Cell Biol. 126:1361-1373.
-
(1994)
J. Cell Biol.
, vol.126
, pp. 1361-1373
-
-
Sogo, L.F.1
Yaffe, M.P.2
-
44
-
-
0028293260
-
Changes in mitochondrial shape and distribution induced by ethacrynic acid and the transient formation of a mitochondrial reticulum
-
Soltys, B.J., and R.S. Gupta. 1994. Changes in mitochondrial shape and distribution induced by ethacrynic acid and the transient formation of a mitochondrial reticulum. J. Cell. Physiol. 159:281-294.
-
(1994)
J. Cell. Physiol.
, vol.159
, pp. 281-294
-
-
Soltys, B.J.1
Gupta, R.S.2
-
45
-
-
1842479419
-
Levels of human Fis1 at the mitochondrial outer membrane regulate mitochondrial morphology
-
Stojanovski, D., O.S. Koutsopoulos, K. Okamoto, and M.T. Ryan. 2004. Levels of human Fis1 at the mitochondrial outer membrane regulate mitochondrial morphology. J. Cell Sci. 117:1201-1210.
-
(2004)
J. Cell Sci.
, vol.117
, pp. 1201-1210
-
-
Stojanovski, D.1
Koutsopoulos, O.S.2
Okamoto, K.3
Ryan, M.T.4
-
46
-
-
0141833983
-
Disease mechanisms in inherited neuropathies
-
Suter, U., and S.S. Scherer. 2003. Disease mechanisms in inherited neuropathies. Nat. Rev. Neurosci. 4:714-726.
-
(2003)
Nat. Rev. Neurosci.
, vol.4
, pp. 714-726
-
-
Suter, U.1
Scherer, S.S.2
-
47
-
-
4143110556
-
Oxidative stress in the pathogenesis of diabetic neuropathy
-
Vincent, A.M., J.W. Russell, P. Low, and E.L. Feldman. 2004. Oxidative stress in the pathogenesis of diabetic neuropathy. Endocr. Rev. 25:612-628.
-
(2004)
Endocr. Rev.
, vol.25
, pp. 612-628
-
-
Vincent, A.M.1
Russell, J.W.2
Low, P.3
Feldman, E.L.4
-
48
-
-
24644520767
-
Sharpening the scissors: Mitochondrial fission with aid
-
Yoon, Y. 2004. Sharpening the scissors: mitochondrial fission with aid. Cell Biochem. Biophys. 41:193-206.
-
(2004)
Cell Biochem. Biophys.
, vol.41
, pp. 193-206
-
-
Yoon, Y.1
-
49
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Zuchner, S., I.V. Mersiyanova, M. Muglia, N. Bissar-Tadmouri, J. Rochelle, E.L. Dadali, M. Zappia, E. Nelis, A. Patitucci, J. Senderek, et al. 2004. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat. Genet. 36:449-451.
-
(2004)
Nat. Genet.
, vol.36
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.L.6
Zappia, M.7
Nelis, E.8
Patitucci, A.9
Senderek, J.10
|