-
1
-
-
0343414961
-
Pallido-cerebello-olivary degeneration with eunuchoidism
-
Altschul R., Kotlowski K. Pallido-cerebello-olivary degeneration with eunuchoidism. J Nerv Ment Dis 1956, 123:112-116.
-
(1956)
J Nerv Ment Dis
, vol.123
, pp. 112-116
-
-
Altschul, R.1
Kotlowski, K.2
-
2
-
-
0035866017
-
New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness
-
Amor D.J., Delatycki M.B., Gardner R.J., et al. New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness. Am J Med Genet 2001, 99:29-33.
-
(2001)
Am J Med Genet
, vol.99
, pp. 29-33
-
-
Amor, D.J.1
Delatycki, M.B.2
Gardner, R.J.3
-
3
-
-
28444474185
-
The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone
-
Anttonen A.K., Mahjneh I., Hamalainen R.H., et al. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet 2005, 37:1309-1311.
-
(2005)
Nat Genet
, vol.37
, pp. 1309-1311
-
-
Anttonen, A.K.1
Mahjneh, I.2
Hamalainen, R.H.3
-
4
-
-
0018875966
-
Pure axonal neuropathy: nerve xenografts and clinicopathological study of a family with peripheral neuropathy, hereditary ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain
-
Appenzeller O., Kornfeld M., Atkinson R. Pure axonal neuropathy: nerve xenografts and clinicopathological study of a family with peripheral neuropathy, hereditary ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain. Ann Neurol 1980, 7:251-261.
-
(1980)
Ann Neurol
, vol.7
, pp. 251-261
-
-
Appenzeller, O.1
Kornfeld, M.2
Atkinson, R.3
-
5
-
-
0035933129
-
Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy
-
Barbieri F., Pellecchia M.T., Esposito E., et al. Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy. Neurology 2001, 56:1412-1414.
-
(2001)
Neurology
, vol.56
, pp. 1412-1414
-
-
Barbieri, F.1
Pellecchia, M.T.2
Esposito, E.3
-
6
-
-
0030770750
-
Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency
-
Barrientos A., Casademont J., Genis D., et al. Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency. Hum Mutat 1997, 10:212-216.
-
(1997)
Hum Mutat
, vol.10
, pp. 212-216
-
-
Barrientos, A.1
Casademont, J.2
Genis, D.3
-
7
-
-
55049083176
-
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
-
Bassuk A.G., Wallace R.H., Buhr A., et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 2008, 83:572-581.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 572-581
-
-
Bassuk, A.G.1
Wallace, R.H.2
Buhr, A.3
-
8
-
-
0019984512
-
Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency
-
Berciano J., Amado J.A., Freijanes J., et al. Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency. J Neurol Neurosurg Psychiatry 1982, 45:747-751.
-
(1982)
J Neurol Neurosurg Psychiatry
, vol.45
, pp. 747-751
-
-
Berciano, J.1
Amado, J.A.2
Freijanes, J.3
-
9
-
-
0023005321
-
Progressive myoclonus epilepsies: specific causes and diagnosis
-
Berkovic S., Andermann F., Carpenter S., et al. Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 1986, 315:296-305.
-
(1986)
N Engl J Med
, vol.315
, pp. 296-305
-
-
Berkovic, S.1
Andermann, F.2
Carpenter, S.3
-
10
-
-
20144376593
-
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping
-
Berkovic S.F., Mazarib A., Walid S., et al. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. Brain 2005, 128:652-658.
-
(2005)
Brain
, vol.128
, pp. 652-658
-
-
Berkovic, S.F.1
Mazarib, A.2
Walid, S.3
-
11
-
-
0034513418
-
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23
-
Bomont P., Watanabe M., Gershoni-Barush R., et al. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000, 8:986-990.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 986-990
-
-
Bomont, P.1
Watanabe, M.2
Gershoni-Barush, R.3
-
12
-
-
0017875301
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
-
Bouchard J.P., Barbeau A., Bouchard R., et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 1978, 5:61-69.
-
(1978)
Can J Neurol Sci
, vol.5
, pp. 61-69
-
-
Bouchard, J.P.1
Barbeau, A.2
Bouchard, R.3
-
13
-
-
0018766158
-
Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
-
Bouchard J.P., Barbeau A., Bouchard R., et al. Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Can J Neurol Sci 1979, 6:185-189.
-
(1979)
Can J Neurol Sci
, vol.6
, pp. 185-189
-
-
Bouchard, J.P.1
Barbeau, A.2
Bouchard, R.3
-
14
-
-
0032190911
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
-
Bouchard J.P., Richter A., Mathieu J., et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord 1998, 8:474-479.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 474-479
-
-
Bouchard, J.P.1
Richter, A.2
Mathieu, J.3
-
15
-
-
2042482422
-
Autosomal recessive spastic ataxia (Charlevoix-Saguenay)
-
Marcel Dekker, New York, T. Klockgether (Ed.)
-
Bouchard J.P., Richter A., Melançon S.B., et al. Autosomal recessive spastic ataxia (Charlevoix-Saguenay). Handbook of Ataxia Disorders 2000, 311-324. Marcel Dekker, New York. T. Klockgether (Ed.).
-
(2000)
Handbook of Ataxia Disorders
, pp. 311-324
-
-
Bouchard, J.P.1
Richter, A.2
Melançon, S.B.3
-
16
-
-
34147098533
-
A novel locus for autosomal recessive spastic ataxia on chromosome 17p
-
Bouslam N., Bouhouche A., Benomar A., et al. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet 2007, 121:413-420.
-
(2007)
Hum Genet
, vol.121
, pp. 413-420
-
-
Bouslam, N.1
Bouhouche, A.2
Benomar, A.3
-
17
-
-
0001689838
-
On hereditary ataxy, with a series of twenty-one cases
-
Brown S. On hereditary ataxy, with a series of twenty-one cases. Brain 1892, 15:250-282.
-
(1892)
Brain
, vol.15
, pp. 250-282
-
-
Brown, S.1
-
18
-
-
84968594776
-
Friedreich's disease
-
Burgess
-
Burgess Friedreich's disease. Br Med J 1892, 1:768-769.
-
(1892)
Br Med J
, vol.1
, pp. 768-769
-
-
-
19
-
-
0028180764
-
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis
-
Chakraborty S., Rafi M.A., Wenger D.A. Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. Am J Hum Genet 1994, 54:1004-1013.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 1004-1013
-
-
Chakraborty, S.1
Rafi, M.A.2
Wenger, D.A.3
-
20
-
-
0141618459
-
Mutations in NHLRC1 cause progressive myoclonus epilepsy
-
Chan E.M., Young E.J., Ianzano L., et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet 2003, 35:125-127.
-
(2003)
Nat Genet
, vol.35
, pp. 125-127
-
-
Chan, E.M.1
Young, E.J.2
Ianzano, L.3
-
21
-
-
0027221036
-
Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population
-
Chiò A., Orsi L., Mortara P., et al. Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population. Clin Genet 1993, 43:207-211.
-
(1993)
Clin Genet
, vol.43
, pp. 207-211
-
-
Chiò, A.1
Orsi, L.2
Mortara, P.3
-
22
-
-
9144241657
-
A novel mutation in SACS gene in a family from southern Italy
-
Criscuolo C., Banfi S., Orio M., et al. A novel mutation in SACS gene in a family from southern Italy. Neurology 2004, 62:100-102.
-
(2004)
Neurology
, vol.62
, pp. 100-102
-
-
Criscuolo, C.1
Banfi, S.2
Orio, M.3
-
23
-
-
27844446656
-
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
-
Criscuolo C., Saccà F., De Michele G., et al. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. Mov Disord 2005, 20:1358-1361.
-
(2005)
Mov Disord
, vol.20
, pp. 1358-1361
-
-
Criscuolo, C.1
Saccà, F.2
De Michele, G.3
-
24
-
-
0027417491
-
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec
-
De Braekeleer M., Giasson F., Mathieu J., et al. Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol 1993, 10:17-25.
-
(1993)
Genet Epidemiol
, vol.10
, pp. 17-25
-
-
De Braekeleer, M.1
Giasson, F.2
Mathieu, J.3
-
26
-
-
0027480982
-
Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes′ type ataxia)
-
De Michele G., Filla A., Striano S., et al. Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes′ type ataxia). Clin Neurol Neurosurg 1993, 95:23-28.
-
(1993)
Clin Neurol Neurosurg
, vol.95
, pp. 23-28
-
-
De Michele, G.1
Filla, A.2
Striano, S.3
-
27
-
-
34249762039
-
Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes
-
De Michele G., Di Salle F., Filla A., et al. Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes. Ital J Neurol Sci 1995, 16:303-308.
-
(1995)
Ital J Neurol Sci
, vol.16
, pp. 303-308
-
-
De Michele, G.1
Di Salle, F.2
Filla, A.3
-
28
-
-
0031693396
-
Single photon emission tomography in spinocerebellar degeneration
-
De Michele G., Mainenti P.P., Soricelli A., et al. Single photon emission tomography in spinocerebellar degeneration. J Neurol 1998, 245:603-608.
-
(1998)
J Neurol
, vol.245
, pp. 603-608
-
-
De Michele, G.1
Mainenti, P.P.2
Soricelli, A.3
-
30
-
-
34547805522
-
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
-
Dupré N., Gros-Louis F., Chrestian N., et al. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol 2007, 62:93-98.
-
(2007)
Ann Neurol
, vol.62
, pp. 93-98
-
-
Dupré, N.1
Gros-Louis, F.2
Chrestian, N.3
-
31
-
-
0038037554
-
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia
-
El Euch-Fayache G., Lalani I., Amouri R., et al. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 2003, 60:982-988.
-
(2003)
Arch Neurol
, vol.60
, pp. 982-988
-
-
El Euch-Fayache, G.1
Lalani, I.2
Amouri, R.3
-
32
-
-
0343384355
-
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert J.C., Berube P., Mercier J., et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000, 24:120-125.
-
(2000)
Nat Genet
, vol.24
, pp. 120-125
-
-
Engert, J.C.1
Berube, P.2
Mercier, J.3
-
33
-
-
26844531568
-
Klinische und pathologisch-anatomische Beitrëge zu den erkrankungen des Kleinhirns
-
Fickler A. Klinische und pathologisch-anatomische Beitrëge zu den erkrankungen des Kleinhirns. Dtsch Z Nervenheilkd 1911, 41:306-375.
-
(1911)
Dtsch Z Nervenheilkd
, vol.41
, pp. 306-375
-
-
Fickler, A.1
-
34
-
-
0025184625
-
Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes
-
Filla A., De Michele G., Cavalcanti F., et al. Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes. J Neurol Neurosurg Psychiatry 1990, 53:667-670.
-
(1990)
J Neurol Neurosurg Psychiatry
, vol.53
, pp. 667-670
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
35
-
-
0026736715
-
Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy
-
Filla A., De Michele G., Marconi L., et al. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 1992, 239:351-353.
-
(1992)
J Neurol
, vol.239
, pp. 351-353
-
-
Filla, A.1
De Michele, G.2
Marconi, L.3
-
36
-
-
0019419262
-
Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?
-
Fitzsimons R.B., Clifton-Bligh P., Wolfenden W.H. Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?. J Neurol Neurosurg Psychiatry 1981, 44:79-82.
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 79-82
-
-
Fitzsimons, R.B.1
Clifton-Bligh, P.2
Wolfenden, W.H.3
-
37
-
-
0024546563
-
Syndrome of cerebellar ataxia and hypogonadotrophic hypogonadism: evidence for pituitary gonadotrophin deficiency
-
Fok A.C., Wong M.C., Cheah J.S. Syndrome of cerebellar ataxia and hypogonadotrophic hypogonadism: evidence for pituitary gonadotrophin deficiency. J Neurol Neurosurg Psychiatry 1989, 52:407-409.
-
(1989)
J Neurol Neurosurg Psychiatry
, vol.52
, pp. 407-409
-
-
Fok, A.C.1
Wong, M.C.2
Cheah, J.S.3
-
38
-
-
0008289346
-
Defect of the cerebellum occurring in a brother and sister
-
Fraser D. Defect of the cerebellum occurring in a brother and sister. Glasgow Med J 1880, 13:199-210.
-
(1880)
Glasgow Med J
, vol.13
, pp. 199-210
-
-
Fraser, D.1
-
39
-
-
37748998721
-
Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay
-
Garcia A., Criscuolo C., de Michele G., et al. Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. Muscle Nerve 2008, 37:107-110.
-
(2008)
Muscle Nerve
, vol.37
, pp. 107-110
-
-
Garcia, A.1
Criscuolo, C.2
de Michele, G.3
-
40
-
-
10744223145
-
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
-
Gironi M., Lamperti C., Nemni R., et al. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology 2004, 62:818-820.
-
(2004)
Neurology
, vol.62
, pp. 818-820
-
-
Gironi, M.1
Lamperti, C.2
Nemni, R.3
-
42
-
-
9144226226
-
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
-
Grieco G.S., Malandrini A., Comanducci G., et al. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology 2004, 62:103-106.
-
(2004)
Neurology
, vol.62
, pp. 103-106
-
-
Grieco, G.S.1
Malandrini, A.2
Comanducci, G.3
-
43
-
-
0038403692
-
HEPN: a common domain in bacterial drug resistance and human neurodegenerative proteins
-
Grynberg M., Erlandsen H., Godzik A. HEPN: a common domain in bacterial drug resistance and human neurodegenerative proteins. Trends Biochem Sci 2003, 28:224-226.
-
(2003)
Trends Biochem Sci
, vol.28
, pp. 224-226
-
-
Grynberg, M.1
Erlandsen, H.2
Godzik, A.3
-
44
-
-
0034880657
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families
-
Gücüyener K., Ozgul K., Paternotte C., et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families. Neuropediatrics 2001, 32:142-146.
-
(2001)
Neuropediatrics
, vol.32
, pp. 142-146
-
-
Gücüyener, K.1
Ozgul, K.2
Paternotte, C.3
-
45
-
-
56049111329
-
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
-
Hakonen A.H., Goffart S., Marjavaara S., et al. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet 2008, 17:3822-3835.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3822-3835
-
-
Hakonen, A.H.1
Goffart, S.2
Marjavaara, S.3
-
46
-
-
18144430899
-
Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan
-
Hara K., Onodera O., Endo M., et al. Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan. Mov Disord 2005, 20:380-382.
-
(2005)
Mov Disord
, vol.20
, pp. 380-382
-
-
Hara, K.1
Onodera, O.2
Endo, M.3
-
47
-
-
0019521898
-
Early onset cerebellar ataxia with retained tendon reflexes: clinical and genetic study of a disorder distinct from Friedreich's ataxia
-
Harding A.E. Early onset cerebellar ataxia with retained tendon reflexes: clinical and genetic study of a disorder distinct from Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1981, 44:503-508.
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 503-508
-
-
Harding, A.E.1
-
49
-
-
84965932686
-
Two cases of cerebellar ataxy
-
Harris W. Two cases of cerebellar ataxy. Proc R Soc Med 1908, 1:52-54.
-
(1908)
Proc R Soc Med
, vol.1
, pp. 52-54
-
-
Harris, W.1
-
50
-
-
0028903259
-
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism
-
Harris Z.L., Takahashi Y., Miyajima H., et al. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci U S A 1995, 92:2539-2543.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 2539-2543
-
-
Harris, Z.L.1
Takahashi, Y.2
Miyajima, H.3
-
51
-
-
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
-
52
-
-
0032898846
-
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32
-
Higgins J.J., Morton D.H., Loveless J.M. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. Neurology 1999, 52:146-150.
-
(1999)
Neurology
, vol.52
, pp. 146-150
-
-
Higgins, J.J.1
Morton, D.H.2
Loveless, J.M.3
-
53
-
-
1642625088
-
Three cases of Friedreich's disease all presenting marked increase of knee jerks
-
Hodge G. Three cases of Friedreich's disease all presenting marked increase of knee jerks. Br Med J 1897, 1:1405-1406.
-
(1897)
Br Med J
, vol.1
, pp. 1405-1406
-
-
Hodge, G.1
-
54
-
-
0017640566
-
Familial spastic ataxia: occurrence in childhood
-
Hogan G.R., Bauman M.L. Familial spastic ataxia: occurrence in childhood. Neurology 1977, 27:520-526.
-
(1977)
Neurology
, vol.27
, pp. 520-526
-
-
Hogan, G.R.1
Bauman, M.L.2
-
55
-
-
0000834705
-
An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia
-
Holmes G. An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain 1907, 30:555-567.
-
(1907)
Brain
, vol.30
, pp. 555-567
-
-
Holmes, G.1
-
56
-
-
77957188127
-
A form of familial degeneration of the cerebellum
-
Holmes G. A form of familial degeneration of the cerebellum. Brain 1907, 30:466-488.
-
(1907)
Brain
, vol.30
, pp. 466-488
-
-
Holmes, G.1
-
57
-
-
77957177337
-
Dyssinergia cerebellaris myoclonica - primary atrophy of the dentate system
-
Hunt J.R. Dyssinergia cerebellaris myoclonica - primary atrophy of the dentate system. Brain 1921, 44:490-538.
-
(1921)
Brain
, vol.44
, pp. 490-538
-
-
Hunt, J.R.1
-
58
-
-
0029182922
-
Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia
-
Ichinose M., Tojo K., Nakayama M., et al. Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia. Intern Med 1995, 34:18-23.
-
(1995)
Intern Med
, vol.34
, pp. 18-23
-
-
Ichinose, M.1
Tojo, K.2
Nakayama, M.3
-
59
-
-
0037268161
-
Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?
-
Jbour A.K., Mubaidin A.F., Till M., et al. Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?. J Med Genet 2003, 40:e2.
-
(2003)
J Med Genet
, vol.40
-
-
Jbour, A.K.1
Mubaidin, A.F.2
Till, M.3
-
60
-
-
0346448356
-
Contribution a l'étude des affections nerveuses familiales et héréditaires
-
Klippel M., Durante G. Contribution a l'étude des affections nerveuses familiales et héréditaires. Rev Med (Paris) 1892, 12:745-785.
-
(1892)
Rev Med (Paris)
, vol.12
, pp. 745-785
-
-
Klippel, M.1
Durante, G.2
-
61
-
-
0025775734
-
Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia
-
Klockgether T., Petersen D., Grodd W., et al. Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. Brain 1991, 114:1559-1573.
-
(1991)
Brain
, vol.114
, pp. 1559-1573
-
-
Klockgether, T.1
Petersen, D.2
Grodd, W.3
-
62
-
-
6844236985
-
The natural history of degenerative ataxia: a retrospective study in 466 patients
-
Klockgether T., Lüdtke R., Kramer B., et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 1998, 121:589-600.
-
(1998)
Brain
, vol.121
, pp. 589-600
-
-
Klockgether, T.1
Lüdtke, R.2
Kramer, B.3
-
63
-
-
0028089305
-
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease
-
Koskinen T., Santavuori P., Sainio K., et al. Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. J Neurol Sci 1994, 121:50-56.
-
(1994)
J Neurol Sci
, vol.121
, pp. 50-56
-
-
Koskinen, T.1
Santavuori, P.2
Sainio, K.3
-
64
-
-
0242319680
-
Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31
-
Lagier-Tourenne C., Tranebaerg L., Chaigne D., et al. Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31. Eur J Hum Genet 2003, 11:770-778.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 770-778
-
-
Lagier-Tourenne, C.1
Tranebaerg, L.2
Chaigne, D.3
-
65
-
-
0030964106
-
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
-
Lalioti M.D., Scott H.S., Buresi C., et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997, 386:847-851.
-
(1997)
Nature
, vol.386
, pp. 847-851
-
-
Lalioti, M.D.1
Scott, H.S.2
Buresi, C.3
-
66
-
-
0000223839
-
Sur l'hérédoataxie cérébellouse
-
Marie P. Sur l'hérédoataxie cérébellouse. Semaines de Médicine (Paris) 1893, 13:444-447.
-
(1893)
Semaines de Médicine (Paris)
, vol.13
, pp. 444-447
-
-
Marie, P.1
-
67
-
-
0025167681
-
Progressive myoclonic ataxia (the Ramsay Hunt syndrome)
-
Marsden C.D., Harding A.E., Obeso J.A., et al. Progressive myoclonic ataxia (the Ramsay Hunt syndrome). Arch Neurol 1990, 47:1121-1125.
-
(1990)
Arch Neurol
, vol.47
, pp. 1121-1125
-
-
Marsden, C.D.1
Harding, A.E.2
Obeso, J.A.3
-
68
-
-
0035052885
-
Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families
-
Marzouki N., Belal S., Benhamida C., et al. Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families. Clin Genet 2001, 59:257-262.
-
(2001)
Clin Genet
, vol.59
, pp. 257-262
-
-
Marzouki, N.1
Belal, S.2
Benhamida, C.3
-
69
-
-
0343850944
-
Familial cerebellar ataxia and hypogonadism
-
Matthews W.B., Rundle A.T. Familial cerebellar ataxia and hypogonadism. Brain 1964, 87:463-468.
-
(1964)
Brain
, vol.87
, pp. 463-468
-
-
Matthews, W.B.1
Rundle, A.T.2
-
70
-
-
0037154185
-
Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes
-
Merlini L., Gooding R., Lochmuller H., et al. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology 2002, 58:231-236.
-
(2002)
Neurology
, vol.58
, pp. 231-236
-
-
Merlini, L.1
Gooding, R.2
Lochmuller, H.3
-
71
-
-
0031828620
-
Early-onset cerebellar ataxia (EOCA) with retained reflexes: reduced cerebellar benzodiazepine-receptor binding, progressive metabolic and cognitive impairment
-
Mielke R., Hilker R., Weber-Luxenburger G., et al. Early-onset cerebellar ataxia (EOCA) with retained reflexes: reduced cerebellar benzodiazepine-receptor binding, progressive metabolic and cognitive impairment. Mov Disord 1998, 13:739-745.
-
(1998)
Mov Disord
, vol.13
, pp. 739-745
-
-
Mielke, R.1
Hilker, R.2
Weber-Luxenburger, G.3
-
72
-
-
17344362307
-
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
-
Minassian B.A., Lee J.R., Herbrick J.A., et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet 1998, 20:171-174.
-
(1998)
Nat Genet
, vol.20
, pp. 171-174
-
-
Minassian, B.A.1
Lee, J.R.2
Herbrick, J.A.3
-
73
-
-
0034636165
-
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
-
Mrissa N., Belal S., Hamida C.B., et al. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 2000, 54:1408-1414.
-
(2000)
Neurology
, vol.54
, pp. 1408-1414
-
-
Mrissa, N.1
Belal, S.2
Hamida, C.B.3
-
74
-
-
0038163511
-
Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum
-
Mubaidin A., Roberts E., Hampshire D., et al. Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. J Med Genet 2003, 40:543-546.
-
(2003)
J Med Genet
, vol.40
, pp. 543-546
-
-
Mubaidin, A.1
Roberts, E.2
Hampshire, D.3
-
75
-
-
0031568287
-
Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24 (1997)
-
Nikali K., Isosomppi J., Lonnqvist T., et al. Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24 (1997). Genomics 1997, 39:185-191.
-
(1997)
Genomics
, vol.39
, pp. 185-191
-
-
Nikali, K.1
Isosomppi, J.2
Lonnqvist, T.3
-
76
-
-
27544440060
-
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
-
Nikali K., Suomalainen A., Saharinen J., et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005, 14:2981-2990.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2981-2990
-
-
Nikali, K.1
Suomalainen, A.2
Saharinen, J.3
-
77
-
-
0346448357
-
Über eine eigenthümliche familiäre Erkrankungskfrom des Centralnervensystem
-
Nonne M. Über eine eigenthümliche familiäre Erkrankungskfrom des Centralnervensystem. Arch Psychiatr Nervenkr 1891, 22:283-316.
-
(1891)
Arch Psychiatr Nervenkr
, vol.22
, pp. 283-316
-
-
Nonne, M.1
-
78
-
-
0347236900
-
Identification of a SACS gene missense mutation in ARSACS
-
Ogawa T., Takiyama Y., Sakoe K., et al. Identification of a SACS gene missense mutation in ARSACS. Neurology 2004, 62:107-109.
-
(2004)
Neurology
, vol.62
, pp. 107-109
-
-
Ogawa, T.1
Takiyama, Y.2
Sakoe, K.3
-
79
-
-
0026681807
-
Cerebellar ataxia with hypogonadotropic hypogonadism
-
Ohara S., Kondo K., Maruyama K., et al. Cerebellar ataxia with hypogonadotropic hypogonadism. Rinsho Shinkeigaku 1992, 32:209-212.
-
(1992)
Rinsho Shinkeigaku
, vol.32
, pp. 209-212
-
-
Ohara, S.1
Kondo, K.2
Maruyama, K.3
-
80
-
-
0021221490
-
Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy
-
Ohno T., Tsuchida H., Fukuhara N., et al. Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy. J Neurol 1984, 231:167-169.
-
(1984)
J Neurol
, vol.231
, pp. 167-169
-
-
Ohno, T.1
Tsuchida, H.2
Fukuhara, N.3
-
82
-
-
0024803363
-
Early-onset cerebellar ataxia with retained tendon reflexes
-
Özeren A., Arac N., Ulku A. Early-onset cerebellar ataxia with retained tendon reflexes. Acta Neurol Scand 1989, 80:593-597.
-
(1989)
Acta Neurol Scand
, vol.80
, pp. 593-597
-
-
Özeren, A.1
Arac, N.2
Ulku, A.3
-
83
-
-
0018751255
-
The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study
-
Peyronnard J.M., Charron L., Barbeau A. The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study. Can J Neurol Sci 1979, 6:199-203.
-
(1979)
Can J Neurol Sci
, vol.6
, pp. 199-203
-
-
Peyronnard, J.M.1
Charron, L.2
Barbeau, A.3
-
85
-
-
0025876335
-
Hereditary ataxias and paraplegias in Cantabria. Spain. An epidemiological and clinical study
-
Polo G.M., Calleia J., Combarros O., et al. Hereditary ataxias and paraplegias in Cantabria. Spain. An epidemiological and clinical study. Brain 1991, 114:855-866.
-
(1991)
Brain
, vol.114
, pp. 855-866
-
-
Polo, G.M.1
Calleia, J.2
Combarros, O.3
-
86
-
-
0027355956
-
Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
-
Richter A., Morgan K., Bouchard J.P., et al. Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Adv Neurol 1993, 61:97-103.
-
(1993)
Adv Neurol
, vol.61
, pp. 97-103
-
-
Richter, A.1
Morgan, K.2
Bouchard, J.P.3
-
87
-
-
0033361944
-
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11
-
Richter A., Rioux J.D., Bouchard J.P., et al. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet 1999, 64:768-775.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 768-775
-
-
Richter, A.1
Rioux, J.D.2
Bouchard, J.P.3
-
88
-
-
5444228798
-
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
-
Richter A.M., Ozgul R.K., Poisson V.C., et al. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics 2004, 5:165-170.
-
(2004)
Neurogenetics
, vol.5
, pp. 165-170
-
-
Richter, A.M.1
Ozgul, R.K.2
Poisson, V.C.3
-
89
-
-
0026447519
-
Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A comparison with Friedreich's ataxia
-
Santoro L., Perretti A., Filla A., et al. Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A comparison with Friedreich's ataxia. J Neurol Sci 1992, 113:43-49.
-
(1992)
J Neurol Sci
, vol.113
, pp. 43-49
-
-
Santoro, L.1
Perretti, A.2
Filla, A.3
-
90
-
-
0036277774
-
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred
-
Seminara S.B., Acierno J.S., Abdulwahid N.A., et al. Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab 2002, 87:1607-1612.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1607-1612
-
-
Seminara, S.B.1
Acierno, J.S.2
Abdulwahid, N.A.3
-
91
-
-
28444497039
-
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
-
Senderek J., Krieger M., Stendel C., et al. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 2005, 37:1312-1314.
-
(2005)
Nat Genet
, vol.37
, pp. 1312-1314
-
-
Senderek, J.1
Krieger, M.2
Stendel, C.3
-
92
-
-
15044357259
-
Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects
-
Shahwan A., Farrell M., Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005, 4:239-248.
-
(2005)
Lancet Neurol
, vol.4
, pp. 239-248
-
-
Shahwan, A.1
Farrell, M.2
Delanty, N.3
-
93
-
-
34547393486
-
Friedreich's disease. A report of 2 unusual cases
-
Sherman I. Friedreich's disease. A report of 2 unusual cases. Arch Neurol Psychiatry 1934, 32:1282-1285.
-
(1934)
Arch Neurol Psychiatry
, vol.32
, pp. 1282-1285
-
-
Sherman, I.1
-
94
-
-
21144442722
-
A phenotype without spasticity in sacsin-related ataxia
-
Shimazaki H., Takiyama Y., Sakoe K., et al. A phenotype without spasticity in sacsin-related ataxia. Neurology 2005, 64:2129-2131.
-
(2005)
Neurology
, vol.64
, pp. 2129-2131
-
-
Shimazaki, H.1
Takiyama, Y.2
Sakoe, K.3
-
95
-
-
79961158781
-
Friedreich's ataxia, with a report of thirteen cases
-
Sinkler W. Friedreich's ataxia, with a report of thirteen cases. New York Journal of Medicine 1906, 83:65-72.
-
(1906)
New York Journal of Medicine
, vol.83
, pp. 65-72
-
-
Sinkler, W.1
-
96
-
-
0017282359
-
Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage?
-
Skre H., Bassoe H.H., Berg K., et al. Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage?. Clin Genet 1976, 9:234-244.
-
(1976)
Clin Genet
, vol.9
, pp. 234-244
-
-
Skre, H.1
Bassoe, H.H.2
Berg, K.3
-
97
-
-
84857105206
-
Un cas de maladie familiale
-
Söderbergh G. Un cas de maladie familiale. Rev Neurol (Paris) 1910, 20:7-12.
-
(1910)
Rev Neurol (Paris)
, vol.20
, pp. 7-12
-
-
Söderbergh, G.1
-
98
-
-
0022389050
-
Prevalence and pattern of spinocerebellar degenerations in northeastern Libya
-
Sridharan R., Radhakrishnan K., Ashok P.P., et al. Prevalence and pattern of spinocerebellar degenerations in northeastern Libya. Brain 1985, 108:831-843.
-
(1985)
Brain
, vol.108
, pp. 831-843
-
-
Sridharan, R.1
Radhakrishnan, K.2
Ashok, P.P.3
-
99
-
-
0031761895
-
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
-
Strom T.M., Hortnagel K., Hofmann S., et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998, 7:2021-2028.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 2021-2028
-
-
Strom, T.M.1
Hortnagel, K.2
Hofmann, S.3
-
100
-
-
0036237387
-
A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus
-
Swartz B.E., Burmeister M., Somers J.T., et al. A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus. Ann N Y Acad Sci 2002, 956:441-444.
-
(2002)
Ann N Y Acad Sci
, vol.956
, pp. 441-444
-
-
Swartz, B.E.1
Burmeister, M.2
Somers, J.T.3
-
101
-
-
18644386254
-
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
-
Takashima H., Boerkoel C.F., John J., et al. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 2002, 32:267-272.
-
(2002)
Nat Genet
, vol.32
, pp. 267-272
-
-
Takashima, H.1
Boerkoel, C.F.2
John, J.3
-
102
-
-
33749267252
-
A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34
-
Thiffault I., Rioux M.F., Tetreault M., et al. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain 2006, 129:2332-2340.
-
(2006)
Brain
, vol.129
, pp. 2332-2340
-
-
Thiffault, I.1
Rioux, M.F.2
Tetreault, M.3
-
103
-
-
0029118994
-
A new family of Boucher-Neuhauser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature
-
Tojo K., Ichinose M., Nakayama M., et al. A new family of Boucher-Neuhauser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature. Endocr J 1995, 42:367-376.
-
(1995)
Endocr J
, vol.42
, pp. 367-376
-
-
Tojo, K.1
Ichinose, M.2
Nakayama, M.3
-
104
-
-
0028965237
-
Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C
-
Toscano A., Fazio M.C., Vita G., et al. Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C. J Neurol 1995, 242:203-209.
-
(1995)
J Neurol
, vol.242
, pp. 203-209
-
-
Toscano, A.1
Fazio, M.C.2
Vita, G.3
-
105
-
-
0141618451
-
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
-
Varon R., Gooding R., Steglich C., et al. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 2003, 35:185-189.
-
(2003)
Nat Genet
, vol.35
, pp. 185-189
-
-
Varon, R.1
Gooding, R.2
Steglich, C.3
-
106
-
-
16844382687
-
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations
-
Winterthun S., Ferrari G., He L., et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 2005, 64:1204-1208.
-
(2005)
Neurology
, vol.64
, pp. 1204-1208
-
-
Winterthun, S.1
Ferrari, G.2
He, L.3
-
107
-
-
0027405101
-
Magnetic resonance imaging in hereditary and idiopathic ataxia
-
Wüllner U., Klockgether T., Petersen D., et al. Magnetic resonance imaging in hereditary and idiopathic ataxia. Neurology 1993, 43:318-325.
-
(1993)
Neurology
, vol.43
, pp. 318-325
-
-
Wüllner, U.1
Klockgether, T.2
Petersen, D.3
-
108
-
-
27744577866
-
Novel compound heterozygous mutations in sacsin-related ataxia
-
Yamamoto Y., Hiraoka K., Araki M., et al. Novel compound heterozygous mutations in sacsin-related ataxia. J Neurol Sci 2005, 239:101-104.
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(2005)
J Neurol Sci
, vol.239
, pp. 101-104
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Yamamoto, Y.1
Hiraoka, K.2
Araki, M.3
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