-
1
-
-
0142058076
-
Human malformations of the midbrain and hindbrain: Review and proposed classification scheme
-
Parisi MA, Dobyns WB Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab. 2003 ; 80: 36-53.
-
(2003)
Mol Genet Metab
, vol.80
, pp. 36-53
-
-
Parisi, M.A.1
Dobyns, W.B.2
-
2
-
-
68249087651
-
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene
-
Renbaum P., Kellerman E., Jaron R., et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet. 2009 ; 85: 281-289.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 281-289
-
-
Renbaum, P.1
Kellerman, E.2
Jaron, R.3
-
3
-
-
0027771377
-
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset
-
Barth PG Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev. 1993 ; 15: 411-422.
-
(1993)
Brain Dev.
, vol.15
, pp. 411-422
-
-
Barth, P.G.1
-
4
-
-
0037736585
-
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy
-
Rudnik-Schoneborn S., Sztriha L., Aithala GR, et al. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2003 ; 117A: 10-17. (Pubitemid 37059314)
-
(2003)
American Journal of Medical Genetics
, vol.117 A
, Issue.1
, pp. 10-17
-
-
Rudnik-Schoneborn, S.1
Sztriha, L.2
Aithala, G.R.3
Houge, G.4
Laegreid, L.M.5
Seeger, J.6
Huppke, M.7
Wirth, B.8
Zerres, K.9
-
5
-
-
0032726302
-
Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1
-
Muntoni F., Goodwin F., Sewry C., et al. Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. Neuropediatrics. 1999 ; 30: 243-248.
-
(1999)
Neuropediatrics
, vol.30
, pp. 243-248
-
-
Muntoni, F.1
Goodwin, F.2
Sewry, C.3
-
6
-
-
39749110158
-
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration-a late onset variant of PCH-1?
-
Lev D., Michelson-Kerman M., Vinkler C., et al. Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration-a late onset variant of PCH-1? Eur J Paediatr Neurol. 2008 ; 12: 97-101.
-
(2008)
Eur J Paediatr Neurol
, vol.12
, pp. 97-101
-
-
Lev, D.1
Michelson-Kerman, M.2
Vinkler, C.3
-
7
-
-
0002513078
-
Cerebellar hypoplasia in Werdnig-Hoffmann disease
-
Norman RM Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child. 1961 ; 36: 96-101.
-
(1961)
Arch Dis Child
, vol.36
, pp. 96-101
-
-
Norman, R.M.1
-
8
-
-
0025320510
-
Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA)
-
Chou SM, Gilbert EF, Chun RW, et al. Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol. 1990 ; 9: 21-32.
-
(1990)
Clin Neuropathol
, vol.9
, pp. 21-32
-
-
Chou, S.M.1
Gilbert, E.F.2
Chun, R.W.3
-
9
-
-
0029926857
-
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings
-
Rudnik-Schoneborn S., Forkert R., Hahnen E., et al. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics. 1996 ; 27: 8-15.
-
(1996)
Neuropediatrics
, vol.27
, pp. 8-15
-
-
Rudnik-Schoneborn, S.1
Forkert, R.2
Hahnen, E.3
-
10
-
-
0033804893
-
Anterior horn cell disease and olivopontocerebellar hypoplasia
-
Ryan MM, Cooke-Yarborough CM, Procopis PG, et al. Anterior horn cell disease and olivopontocerebellar hypoplasia. Pediatr Neurol. 2000 ; 23: 180-184.
-
(2000)
Pediatr Neurol
, vol.23
, pp. 180-184
-
-
Ryan, M.M.1
Cooke-Yarborough, C.M.2
Procopis, P.G.3
-
11
-
-
0017687503
-
Anterior horn cell disease associated with pontocerebellar hypoplasia in infants
-
Goutieres F., Aicardi J., Farkas E. Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. J Neurol Neurosurg Psychiatry. 1977 ; 40: 370-378.
-
(1977)
J Neurol Neurosurg Psychiatry
, vol.40
, pp. 370-378
-
-
Goutieres, F.1
Aicardi, J.2
Farkas, E.3
-
12
-
-
0038069233
-
Pontocerebellar hypoplasia type 1: New leads for an earlier diagnosis
-
Salman MS, Blaser S., Buncic JR, et al. Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. J Child Neurol. 2003 ; 18: 220-225.
-
(2003)
J Child Neurol
, vol.18
, pp. 220-225
-
-
Salman, M.S.1
Blaser, S.2
Buncic, J.R.3
-
13
-
-
0018948433
-
Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease
-
Steiman GS, Rorke LB, Brown MJ Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease. Ann Neurol. 1980 ; 8: 317-324.
-
(1980)
Ann Neurol
, vol.8
, pp. 317-324
-
-
Steiman, G.S.1
Rorke, L.B.2
Brown, M.J.3
-
14
-
-
0000739143
-
Seminiferous tubule dysgenesis (Klinefelter's syndrome) associated with familiar cerebellar ataxia
-
Hecht A., Ruskin H. Seminiferous tubule dysgenesis (Klinefelter's syndrome) associated with familiar cerebellar ataxia. J Clin Endocrinol Metab. 1960 ; 20: 1184-1190.
-
(1960)
J Clin Endocrinol Metab
, vol.20
, pp. 1184-1190
-
-
Hecht, A.1
Ruskin, H.2
-
15
-
-
0006324595
-
Spinocerebellar hereditary degeneration (SCHD) associated with the Klinefelter syndrome
-
Indemini M., Ammann F. Spinocerebellar hereditary degeneration (SCHD) associated with the Klinefelter syndrome. Confin Neurol. 1963 ; 23: 155-164.
-
(1963)
Confin Neurol
, vol.23
, pp. 155-164
-
-
Indemini, M.1
Ammann, F.2
-
16
-
-
0022963509
-
A case of heredoataxia in a subject with karyotype 49 XXXXY
-
Stanzani P., Bruno L., Pollari Maglietta E., et al. A case of heredoataxia in a subject with karyotype 49 XXXXY. Brain Dev. 1986 ; 8: 570-571.
-
(1986)
Brain Dev
, vol.8
, pp. 570-571
-
-
Stanzani, P.1
Bruno, L.2
Pollari Maglietta, E.3
-
17
-
-
0025921769
-
Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark
-
Nielsen J., Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991 ; 87: 81-83.
-
(1991)
Hum Genet
, vol.87
, pp. 81-83
-
-
Nielsen, J.1
Wohlert, M.2
-
18
-
-
0016811861
-
Incidence of chromosome aberrations among 11148 newborn children
-
Nielsen J., Sillesen I. Incidence of chromosome aberrations among 11148 newborn children. Humangenetik. 1975 ; 30: 1-12.
-
(1975)
Humangenetik
, vol.30
, pp. 1-12
-
-
Nielsen, J.1
Sillesen, I.2
-
19
-
-
0031939924
-
A cell culture model for androgen effects in motor neurons
-
Brooks BP, Merry DE, Paulson HL, et al. A cell culture model for androgen effects in motor neurons. J Neurochem. 1998 ; 70: 1054-1060.
-
(1998)
J Neurochem
, vol.70
, pp. 1054-1060
-
-
Brooks, B.P.1
Merry, D.E.2
Paulson, H.L.3
-
20
-
-
0026438927
-
Regulation of motoneuron death in the spinal nucleus of the bulbocavernosus
-
Forger NG, Hodges LL, Roberts SL, et al. Regulation of motoneuron death in the spinal nucleus of the bulbocavernosus. J Neurobiol. 1992 ; 23: 1192-1203.
-
(1992)
J Neurobiol
, vol.23
, pp. 1192-1203
-
-
Forger, N.G.1
Hodges, L.L.2
Roberts, S.L.3
-
21
-
-
0029911839
-
Trophic effects of androgen: Receptor expression and the survival of laryngeal motor neurons after axotomy
-
Perez J., Kelley DB Trophic effects of androgen: receptor expression and the survival of laryngeal motor neurons after axotomy. J Neurosci. 1996 ; 16: 6625-6633.
-
(1996)
J Neurosci
, vol.16
, pp. 6625-6633
-
-
Perez, J.1
Kelley, D.B.2
|