-
1
-
-
0033631468
-
Brainstem auditory evoked potentials and cochlear microphonics in the HMSN family with auditory neuropathy
-
Butinar D, Starr A, Vatovec J. Brainstem auditory evoked potentials and cochlear microphonics in the HMSN family with auditory neuropathy. Pflugers Arch 2000;439:204-5.
-
(2000)
Pflugers Arch
, vol.439
, pp. 204-205
-
-
Butinar, D.1
Starr, A.2
Vatovec, J.3
-
2
-
-
0033005095
-
Hereditary auditory, vestibular, motor and sensory neuropathy in a Slovenian Roma (Gypsy) kindred
-
Butinar D, Zidar J, Leonardis L, et al. Hereditary auditory, vestibular, motor and sensory neuropathy in a Slovenian Roma (Gypsy) kindred. Ann Neurol 1999;46:36-44.
-
(1999)
Ann Neurol
, vol.46
, pp. 36-44
-
-
Butinar, D.1
Zidar, J.2
Leonardis, L.3
-
3
-
-
0031882018
-
Hereditary motor and sensory neuropathy - Lom, a novel demyelinating neuropathy associated with deafness in Gypsies: Clinical, electrophysiological and nerve biopsy findings
-
Kalaydjieva L, Nikolova A, Tourney I, et al. Hereditary motor and sensory neuropathy - Lom, a novel demyelinating neuropathy associated with deafness in Gypsies: clinical, electrophysiological and nerve biopsy findings. Brain 1998;121:399-408.
-
(1998)
Brain
, vol.121
, pp. 399-408
-
-
Kalaydjieva, L.1
Nikolova, A.2
Tourney, I.3
-
5
-
-
16044365767
-
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
-
Kalaydjieva L, Hallmayer J, Chandler D, et al. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet 1996;14:214-7.
-
(1996)
Nat Genet
, vol.14
, pp. 214-217
-
-
Kalaydjieva, L.1
Hallmayer, J.2
Chandler, D.3
-
6
-
-
0032078756
-
Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family
-
Merlini L, Villanova M, Sabatelli P, et al. Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family. Neuromuscul Disord 1998;8:182-5.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 182-185
-
-
Merlini, L.1
Villanova, M.2
Sabatelli, P.3
-
7
-
-
0033784885
-
Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: Clinical, electrophysiological, pathological and genetic studies
-
Colomer J, Iturriaga J, Kalaydjieva L, et al. Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies. Neuromuscul Disord 2000;10:578-83.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 578-583
-
-
Colomer, J.1
Iturriaga, J.2
Kalaydjieva, L.3
-
8
-
-
34250211140
-
Hereditary motor and sensory Lom-neuropathy-first Hungarian case report
-
Szabó A, Siska E, Molnár MJ. Hereditary motor and sensory Lom-neuropathy-first Hungarian case report. Ideggyogy Sz 2007;60:51-5.
-
(2007)
Ideggyogy Sz
, vol.60
, pp. 51-55
-
-
Szabó, A.1
Siska, E.2
Molnár, M.J.3
-
10
-
-
34247571924
-
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
-
Claramunt R, Sevilla T, Lupo V, et al. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. Clin Genet 2007;71:343-9.
-
(2007)
Clin Genet
, vol.71
, pp. 343-349
-
-
Claramunt, R.1
Sevilla, T.2
Lupo, V.3
-
11
-
-
0033910767
-
N-myc downstream regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
-
Kalaydjieva L, Gresham D, Gooding R, et al. N-myc downstream regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 2000;67:47-58.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 47-58
-
-
Kalaydjieva, L.1
Gresham, D.2
Gooding, R.3
-
12
-
-
0033057980
-
Differential expression of the RTP/Drg1/Ndr1 gene product in proliferating and growth arrested cells
-
Piquemal D, Joulia D, Balaguer P, et al. Differential expression of the RTP/Drg1/Ndr1 gene product in proliferating and growth arrested cells. Biochim Biophys Acta 1999;1450:364-73.
-
(1999)
Biochim Biophys Acta
, vol.1450
, pp. 364-373
-
-
Piquemal, D.1
Joulia, D.2
Balaguer, P.3
-
13
-
-
0036434348
-
Expression of NDGR1, a differentiation-related gene, in human tissues
-
Lachat P, Shaw P, Gebhard S, et al. Expression of NDGR1, a differentiation-related gene, in human tissues. Histochem Cell Biol 2002;118:399-408.
-
(2002)
Histochem Cell Biol
, vol.118
, pp. 399-408
-
-
Lachat, P.1
Shaw, P.2
Gebhard, S.3
-
14
-
-
33646368711
-
N-myc down-regulated gene 1 modulates the response of term human trophoblasts to hypoxic injury
-
Chen B, Nelson DM, Sadovsky Y. N-myc down-regulated gene 1 modulates the response of term human trophoblasts to hypoxic injury. J Biol Chem 2006;281:2764-72.
-
(2006)
J Biol Chem
, vol.281
, pp. 2764-2772
-
-
Chen, B.1
Nelson, D.M.2
Sadovsky, Y.3
-
15
-
-
0032188908
-
Inhibition of tumor cell growth by RTP/rit42 and its responsiveness to p53 and DNA damage
-
Kurdistani SK, Arizti P, Reimer CL, et al. Inhibition of tumor cell growth by RTP/rit42 and its responsiveness to p53 and DNA damage. Cancer Res 1998;58:4439-44.
-
(1998)
Cancer Res
, vol.58
, pp. 4439-4444
-
-
Kurdistani, S.K.1
Arizti, P.2
Reimer, C.L.3
-
16
-
-
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, Sirkowski EE, Scherer SS, et al. 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 2004;17:290-9.
-
(2004)
Neurobiol Dis
, vol.17
, pp. 290-299
-
-
Berger, P.1
Sirkowski, E.E.2
Scherer, S.S.3
-
17
-
-
33748157549
-
Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease)
-
Berger P, Niemann A, Suter U. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia 2006;54:243-57.
-
(2006)
Glia
, vol.54
, pp. 243-257
-
-
Berger, P.1
Niemann, A.2
Suter, U.3
-
18
-
-
20444401541
-
NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24
-
Hunter M, Angelicheva D, Tourney I, et al. NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24. Biochem Biophys Res Commun 2005;332:982-92.
-
(2005)
Biochem Biophys Res Commun
, vol.332
, pp. 982-992
-
-
Hunter, M.1
Angelicheva, D.2
Tourney, I.3
-
19
-
-
1942422199
-
NDRG1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves
-
Okuda T, Higashi Y, Kokame K, et al. NDRG1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. Mol Cell Biol 2004;24:3949-56.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 3949-3956
-
-
Okuda, T.1
Higashi, Y.2
Kokame, K.3
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