-
1
-
-
0022308738
-
Heterogeneity of the immunological deficiency in ataxia-telangiectasia: Absence of a clinical-pathological correlation
-
Gatti RA, Swift M (eds): New York, Alan R Liss 3-87, Kroc Found Ser 19
-
Roifman CM, Gelfand EW: Heterogeneity of the immunological deficiency in ataxia-telangiectasia: Absence of a clinical-pathological correlation, in Gatti RA, Swift M (eds): Ataxia-Telangiectasia. New York, Alan R Liss 3-87, 1985, Kroc Found Ser 19, pp 273-285.
-
(1985)
Ataxia-Telangiectasia
, pp. 273-285
-
-
Roifman, C.M.1
Gelfand, E.W.2
-
2
-
-
0004906867
-
Ataxia-telangiectasia: Genetic studies
-
Gupta S, Griscelli C (eds): Chichester, John Wiley
-
Gatti RA: Ataxia-telangiectasia: Genetic studies, in Gupta S, Griscelli C (eds): New concepts in Immunodeficiency Diseases. Chichester, John Wiley, 1993, pp 203-214.
-
(1993)
New Concepts in Immunodeficiency Diseases
, pp. 203-214
-
-
Gatti, R.A.1
-
3
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K, Bar-Shira A, Gilad S, et al: A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268: 1749-1753.
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
-
4
-
-
0029083360
-
Ataxia-telangiectasia - Broad implications for a rare disorder
-
Kastan M: Ataxia-telangiectasia - Broad implications for a rare disorder. N Engl J Med 1995;333:662-663.
-
(1995)
N Engl J Med
, vol.333
, pp. 662-663
-
-
Kastan, M.1
-
5
-
-
0002590341
-
Ataxia-telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy and a case history
-
Boder E, Sedgwick RP: Ataxia-telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy and a case history. Univ South Calif Med Bull 1957;9:15-28.
-
(1957)
Univ South Calif Med Bull
, vol.9
, pp. 15-28
-
-
Boder, E.1
Sedgwick, R.P.2
-
6
-
-
0004977442
-
Ataxia-telangiectasia and sinopulmonary infections. A syndrome of slowly progressive deterioration in childhood
-
Centerwall WR, Miller MM: Ataxia-telangiectasia and sinopulmonary infections. A syndrome of slowly progressive deterioration in childhood. Am J Dis Child 1958;95:385-396.
-
(1958)
Am J Dis Child
, vol.95
, pp. 385-396
-
-
Centerwall, W.R.1
Miller, M.M.2
-
8
-
-
0016832693
-
Ataxia-telangiectasia: Some historic, clinical and pathologic observations
-
Bergsma D, Good RA, Finstad J, Paul NW (eds): Sunderland, MA, Sinauer
-
Boder E: Ataxia-telangiectasia: Some historic, clinical and pathologic observations, in Bergsma D, Good RA, Finstad J, Paul NW (eds): Immunodeficiency in Men and Animals. Sunderland, MA, Sinauer, 1975, pp 255-259.
-
(1975)
Immunodeficiency in Men and Animals
, pp. 255-259
-
-
Boder, E.1
-
10
-
-
0023247373
-
Variant forms of ataxia-telangiectasia
-
Taylor AM, Flude E, Laher B, et al: Variant forms of ataxia-telangiectasia. J Med Genet 1987;24:669-677.
-
(1987)
J Med Genet
, vol.24
, pp. 669-677
-
-
Taylor, A.M.1
Flude, E.2
Laher, B.3
-
11
-
-
0025071123
-
Progressive peripheral neuron degeneration in Ataxia-telangiectasia: An electrophysiological study in children
-
Kwast O, Ignatowitz R: Progressive peripheral neuron degeneration in Ataxia-telangiectasia: An electrophysiological study in children. Dev Med Child Neurol 1990;32:800-807.
-
(1990)
Dev Med Child Neurol
, vol.32
, pp. 800-807
-
-
Kwast, O.1
Ignatowitz, R.2
-
12
-
-
0015830740
-
Nerve conduction studies in children with Friedreich's ataxia and ataxia-telangiectasia
-
Dunn HG: Nerve conduction studies in children with Friedreich's ataxia and ataxia-telangiectasia. Dev Med Child Neurol 1973;15:324-337.
-
(1973)
Dev Med Child Neurol
, vol.15
, pp. 324-337
-
-
Dunn, H.G.1
-
14
-
-
0022637313
-
Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia? Morphometric and ultrastructural study of the sural nerve in a case of Louis-Bar syndrome
-
Barbieri F, Santoro L, Crisci C, et al: Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia? Morphometric and ultrastructural study of the sural nerve in a case of Louis-Bar syndrome. Acta Neuropathol 1986;69:213-219.
-
(1986)
Acta Neuropathol
, vol.69
, pp. 213-219
-
-
Barbieri, F.1
Santoro, L.2
Crisci, C.3
-
15
-
-
0014443290
-
Ataxia-telangiectasia. Electron microscopic study of a nerve biopsy
-
Gardner MB, Goodman WN: Ataxia-telangiectasia. Electron microscopic study of a nerve biopsy. Bull Los Angeles Neurol Soc 1969; 34:23-38.
-
(1969)
Bull Los Angeles Neurol Soc
, vol.34
, pp. 23-38
-
-
Gardner, M.B.1
Goodman, W.N.2
-
16
-
-
0014442554
-
Ataxia-telangiectasia: A report of 2 cases in siblings presenting a picture of progressive spinal muscular atrophy
-
Goodman WN, Cooper WC, Kessler GB, et al: Ataxia-telangiectasia: A report of 2 cases in siblings presenting a picture of progressive spinal muscular atrophy. Bull Los Angeles Neurol Soc 1969;34:1-22.
-
(1969)
Bull Los Angeles Neurol Soc
, vol.34
, pp. 1-22
-
-
Goodman, W.N.1
Cooper, W.C.2
Kessler, G.B.3
-
17
-
-
0023162350
-
Responses in small hand muscles from magnetic stimulation of the human brain
-
Hess CW, Mills KR, Murray NMF: Responses in small hand muscles from magnetic stimulation of the human brain. J Physiol (Lond) 1987;388:397-419.
-
(1987)
J Physiol (Lond)
, vol.388
, pp. 397-419
-
-
Hess, C.W.1
Mills, K.R.2
Murray, N.M.F.3
-
18
-
-
0025299243
-
Clinical use of the magnetic stimulator in the investigation of peripheral conduction time
-
Britton TC, Meyer BU, Herdmann J, Benecke R: Clinical use of the magnetic stimulator in the investigation of peripheral conduction time. Muscle Nerve 1990;13:396-406.
-
(1990)
Muscle Nerve
, vol.13
, pp. 396-406
-
-
Britton, T.C.1
Meyer, B.U.2
Herdmann, J.3
Benecke, R.4
-
19
-
-
0023870679
-
Central motor conduction times using transcranial stimulation and F wave latencies
-
Robinson LR, Jantra P, MacLean IC: Central motor conduction times using transcranial stimulation and F wave latencies. Muscle Nerve 1988;11:174-180.
-
(1988)
Muscle Nerve
, vol.11
, pp. 174-180
-
-
Robinson, L.R.1
Jantra, P.2
MacLean, I.C.3
-
20
-
-
0026636279
-
Développement postnatal des voies motrices centrales. Étude électrophysiologique
-
Khater-Boidin J, Joly H, Duron B: Développement postnatal des voies motrices centrales. Étude électrophysiologique. Neurophysiol Clin 1992;22:207-224.
-
(1992)
Neurophysiol Clin
, vol.22
, pp. 207-224
-
-
Khater-Boidin, J.1
Joly, H.2
Duron, B.3
-
21
-
-
0025858682
-
Magnetic stimulation of the motor cortex and nerve roots in children. Maturation of corticomotoneural projections
-
Müller K, Hömberg V, Lenard HG: Magnetic stimulation of the motor cortex and nerve roots in children. Maturation of corticomotoneural projections. Electroencephalogr Clin Neurophysiol 1991;81:63-70.
-
(1991)
Electroencephalogr Clin Neurophysiol
, vol.81
, pp. 63-70
-
-
Müller, K.1
Hömberg, V.2
Lenard, H.G.3
-
22
-
-
0021214338
-
Analysis of F wave parameters in median and ulnar nerves in healthy infants and children. Age related changes
-
Kwast O, Krajewska G, Kozlowski K: Analysis of F wave parameters in median and ulnar nerves in healthy infants and children. Age related changes. Electromyogr Clin Neurophysiol 1984;24: 439-456.
-
(1984)
Electromyogr Clin Neurophysiol
, vol.24
, pp. 439-456
-
-
Kwast, O.1
Krajewska, G.2
Kozlowski, K.3
-
24
-
-
0021850079
-
Visual evoked potentials in ataxia-telangiectasia
-
Sridharan R, Metha BC: Visual evoked potentials in ataxia-telangiectasia. J Neurol 1985;232:172-174.
-
(1985)
J Neurol
, vol.232
, pp. 172-174
-
-
Sridharan, R.1
Metha, B.C.2
-
25
-
-
0018175913
-
Electrophysiological aspects of sensory conduction velocity in healthy adults.1.Conduction velocity from digit to palm, from palm to wrist, and across the elbow, as a function of age
-
Cruz Martinez A, Barrio M, Perez Conde MC, Gutierrez AM: Electrophysiological aspects of sensory conduction velocity in healthy adults.1.Conduction velocity from digit to palm, from palm to wrist, and across the elbow, as a function of age. J Neurol Neurosurg Psychiatry 1978;41:1092-1096.
-
(1978)
J Neurol Neurosurg Psychiatry
, vol.41
, pp. 1092-1096
-
-
Cruz Martinez, A.1
Barrio, M.2
Perez Conde, M.C.3
Gutierrez, A.M.4
-
27
-
-
0002256801
-
Ulnar nerve conduction velocity and H reflex in infants and children
-
Thomas JE, Lambert EH: Ulnar nerve conduction velocity and H reflex in infants and children. J Appl Physiol 1960;15:1-9.
-
(1960)
J Appl Physiol
, vol.15
, pp. 1-9
-
-
Thomas, J.E.1
Lambert, E.H.2
-
28
-
-
0022308737
-
Cerebellar pathology in ataxia-telangiectasia: The significance of basket cells
-
Gatti RA, Swift M (eds): New York, Alan R Liss, Kroc Found Ser 19
-
Gatti RA, Vinters HV: Cerebellar pathology in ataxia-telangiectasia: The significance of basket cells, in Gatti RA, Swift M (eds): Ataxia-telangiectasia. New York, Alan R Liss, 1985, Kroc Found Ser 19, pp 225-232.
-
(1985)
Ataxia-telangiectasia
, pp. 225-232
-
-
Gatti, R.A.1
Vinters, H.V.2
-
29
-
-
0018599748
-
Ataxia-telangiectasia with a 32 years survival. A clinicopathological report
-
Amronin GD, Boder E, Teplitz R: Ataxia-telangiectasia with a 32 years survival. A clinicopathological report. J Neuropathol Exp Neurol 1979;38:621-643.
-
(1979)
J Neuropathol Exp Neurol
, vol.38
, pp. 621-643
-
-
Amronin, G.D.1
Boder, E.2
Teplitz, R.3
-
30
-
-
0020477659
-
Ataxia-telangiectasia. Description of a case with multiple cerebral hemorrhages and liver cirrhosis
-
Casaril M, Gabrielli GB, Capra F, Falezza GC: Ataxia-telangiectasia. Description of a case with multiple cerebral hemorrhages and liver cirrhosis. Minerva Med 1982;73:2183-2188.
-
(1982)
Minerva Med
, vol.73
, pp. 2183-2188
-
-
Casaril, M.1
Gabrielli, G.B.2
Capra, F.3
Falezza, G.C.4
-
31
-
-
0022308073
-
Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia-telangiectasia
-
Gatti RA, Swift M (eds): New York, Alan R Liss, Kroc Found Ser 19
-
Vinters HV, Gatti RA, Rakic P: Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia-telangiectasia, in Gatti RA, Swift M (eds): Ataxia-telangiectasia. New York, Alan R Liss, 1985, Kroc Found Ser 19, pp 233-255.
-
(1985)
Ataxia-telangiectasia
, pp. 233-255
-
-
Vinters, H.V.1
Gatti, R.A.2
Rakic, P.3
-
32
-
-
0009483355
-
Pathological findings in 3 cases of ataxia-telangiectasia
-
Strich S: Pathological findings in 3 cases of ataxia-telangiectasia. J Neurol Neurosurg Psychiatry 1966;29:489-499.
-
(1966)
J Neurol Neurosurg Psychiatry
, vol.29
, pp. 489-499
-
-
Strich, S.1
|