-
1
-
-
0033951420
-
Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions
-
10.1001/archneur.57.2.246 1:STN:280:DC%2BD3c7ktleiuw%3D%3D 10681084
-
SI Bidichandani CA Garcia PI Patel MM Dimachkie 2000 Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions Arch Neurol 57 246 251 10.1001/archneur.57.2.246 1:STN:280:DC%2BD3c7ktleiuw%3D%3D 10681084
-
(2000)
Arch Neurol
, vol.57
, pp. 246-251
-
-
Bidichandani, S.I.1
Garcia, C.A.2
Patel, P.I.3
Dimachkie, M.M.4
-
2
-
-
0015577453
-
Abnormalities of peripheral nerves in murine muscular dystrophy
-
10.1016/0022-510X(73)90009-9 1:STN:280:DyaE3s7jsVOjug%3D%3D 4120487
-
WG Bradley M Jenkison 1973 Abnormalities of peripheral nerves in murine muscular dystrophy J Neurol Sci 18 227 247 10.1016/0022-510X(73)90009-9 1:STN:280:DyaE3s7jsVOjug%3D%3D 4120487
-
(1973)
J Neurol Sci
, vol.18
, pp. 227-247
-
-
Bradley, W.G.1
Jenkison, M.2
-
3
-
-
0020696198
-
Friedreich's ataxia: Electrophysiological and histological findings
-
10.1111/j.1600-0404.1983.tb04542.x 1:STN:280:DyaL3s7nsVKntQ%3D%3D 6837264
-
G Caruso L Santoro A Perretti L Serienga C Crisci M Ragno F Barbieri A Filla 1983 Friedreich's ataxia: electrophysiological and histological findings Acta Neurol Scand 67 26 40 10.1111/j.1600-0404.1983.tb04542.x 1:STN:280:DyaL3s7nsVKntQ%3D%3D 6837264
-
(1983)
Acta Neurol Scand
, vol.67
, pp. 26-40
-
-
Caruso, G.1
Santoro, L.2
Perretti, A.3
Serienga, L.4
Crisci, C.5
Ragno, M.6
Barbieri, F.7
Filla, A.8
-
4
-
-
29144517707
-
Expression of alternative transcripts of ferroportin-1 during human erythroid differentiation
-
L Ciannetti P Segnalini A Calzolari O Morsilli F Felicetti C Ramoni M Gabbianelli U Testa NM Sposi 2005 Expression of alternative transcripts of ferroportin-1 during human erythroid differentiation Haematologia 90 1595 1606
-
(2005)
Haematologia
, vol.90
, pp. 1595-1606
-
-
Ciannetti, L.1
Segnalini, P.2
Calzolari, A.3
Morsilli, O.4
Felicetti, F.5
Ramoni, C.6
Gabbianelli, M.7
Testa, U.8
Sposi, N.M.9
-
5
-
-
77953873813
-
Les lésions des racines, des ganglions rachidiens et des nerfs dans un cas de maladie de Friedreich
-
J Dejerine A Thomas 1907 Les lésions des racines, des ganglions rachidiens et des nerfs dans un cas de maladie de Friedreich Rev Neurol 15 41 54
-
(1907)
Rev Neurol
, vol.15
, pp. 41-54
-
-
Dejerine, J.1
Thomas, A.2
-
6
-
-
0037382098
-
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy
-
DOI 10.1002/mus.10326
-
A Di Muzio MV De Angelis P Di Fulvio A Ratti A Pizzuti L Stuppia D Gambi A Uncini 2003 Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy Muscle Nerve 27 500 506 10.1002/mus.10326 12661054 (Pubitemid 36397071)
-
(2003)
Muscle and Nerve
, vol.27
, Issue.4
, pp. 500-506
-
-
Di Muzio, A.1
De Angelis, M.V.2
Di Fulvio, P.3
Ratti, A.4
Pizzuti, A.5
Stuppia, L.6
Gambi, D.7
Uncini, A.8
-
7
-
-
0036193622
-
Impaired cardiac contractility response to hemodynamic stress in S100A1-deficient mice
-
DOI 10.1128/MCB.22.8.2821-2829.2002
-
X-J Du TJ Cole N Tenis X-M Gao F Köntgen BE Kemp J Heierhorst 2002 Impaired cardiac contractility response to hemodynamic stress in S100A1-deficient mice Mol Cell Biol 22 2821 2829 10.1128/MCB.22.8.2821-2829.2002 1:CAS:528:DC%2BD38XislWnt7w%3D 11909974 (Pubitemid 34263002)
-
(2002)
Molecular and Cellular Biology
, vol.22
, Issue.8
, pp. 2821-2829
-
-
Du, X.-J.1
Cole, T.J.2
Tenis, N.3
Gao, X.-M.4
Kontgen, F.5
Kemp, B.E.6
Heierhorst, J.7
-
9
-
-
0014253874
-
Histologic and teased-fiber measurements of sural nerve in disorders of lower motor neuron and primary sensory neurons
-
1:STN:280:DyaF1c7lsF2qug%3D%3D 4170683
-
PJ Dyck JA Gutrecht JA Bastron WE Karnes AJ Dale 1968 Histologic and teased-fiber measurements of sural nerve in disorders of lower motor neuron and primary sensory neurons Mayo Clin Proc 43 81 123 1:STN:280:DyaF1c7lsF2qug%3D%3D 4170683
-
(1968)
Mayo Clin Proc
, vol.43
, pp. 81-123
-
-
Dyck, P.J.1
Gutrecht, J.A.2
Bastron, J.A.3
Karnes, W.E.4
Dale, A.J.5
-
10
-
-
0004719536
-
Quantitative measurement of sensation related to compound action potential and number and sizes of myelinated and unmyelinated fibers of sural nerve in health, Friedreich's ataxia, hereditary sensory neuropathy, and tabes dorsalis
-
W.A. Cobb (eds). Elsevier Amsterdam
-
Dyck PJ, Lambert EH, Nichols PC (1971) Quantitative measurement of sensation related to compound action potential and number and sizes of myelinated and unmyelinated fibers of sural nerve in health, Friedreich's ataxia, hereditary sensory neuropathy, and tabes dorsalis. In: Cobb WA (ed) Handbook of electroencephalography and clinical neurophysiology, vol 9. Elsevier, Amsterdam, pp 83-103
-
(1971)
Handbook of Electroencephalography and Clinical Neurophysiology
, vol.9
, pp. 83-103
-
-
Dyck, P.J.1
Lambert, E.H.2
Nichols, P.C.3
-
11
-
-
22144492671
-
Laminins and their receptors in Schwann cells and hereditary neuropathies
-
DOI 10.1111/j.1085-9489.2005.0010204.x
-
L Feltri L Wrabetz 2005 Laminins and their receptors in Schwann cells and hereditary neuropathies J Periph Nerv Syst 10 128 143 10.1111/j.1085-9489.2005. 0010204.x 1:CAS:528:DC%2BD2MXnsl2hsLg%3D (Pubitemid 40984888)
-
(2005)
Journal of the Peripheral Nervous System
, vol.10
, Issue.2
, pp. 128-143
-
-
Feltri, M.L.1
Wrabetz, L.2
-
13
-
-
0014379575
-
The peripheral sensory pathway in Friedreich's ataxia
-
10.1093/brain/91.4.803 1:STN:280:DyaF1M%2FovVChsw%3D%3D 4178703
-
JT Hughes B Brownell RL Hewer 1968 The peripheral sensory pathway in Friedreich's ataxia Brain 91 803 818 10.1093/brain/91.4.803 1:STN:280: DyaF1M%2FovVChsw%3D%3D 4178703
-
(1968)
Brain
, vol.91
, pp. 803-818
-
-
Hughes, J.T.1
Brownell, B.2
Hewer, R.L.3
-
14
-
-
0017855805
-
Development of the amyelinated lesion in the ventral root of the dystrophic mouse. Ultrastructural, quantitative and autoradiographic study
-
DOI 10.1016/0022-510X(78)90041-2
-
E Jaros WG Bradley 1978 Development of the amyelinated lesion in the ventral root of the dystrophic mouse. Ultrastructural, quantitative and autoradiographic study J Neurol Sci 36 317 339 10.1016/0022-510X(78)90041-2 1:STN:280:DyaE1c3ksVWgug%3D%3D 681965 (Pubitemid 8318686)
-
(1978)
Journal of the Neurological Sciences
, vol.36
, Issue.3
, pp. 317-339
-
-
Jaros, E.1
Bradley, W.G.2
-
15
-
-
25144470229
-
The origin and development of glial cells in peripheral nerves
-
DOI 10.1038/nrn1746, PII NRN1746
-
KR Jessen R Mirsky 2005 The origin and development of glial cells in peripheral nerves Nat Rev Neurosci 6 671 682 10.1038/nrn1746 1:CAS:528:DC%2BD2MXpslaksro%3D 16136171 (Pubitemid 43160316)
-
(2005)
Nature Reviews Neuroscience
, vol.6
, Issue.9
, pp. 671-682
-
-
Jessen, K.R.1
Mirsky, R.2
-
16
-
-
0027182509
-
The sensory neuropathy of Friedreich's ataxia: An autopsy study of a case with prolonged survival
-
10.1007/BF00454895 1:STN:280:DyaK3szotlKmsw%3D%3D 8372639
-
S Jitpimolmard J Small RHM King J Geddes P Misra J McLaughlin JR Muddle M Cole AE Harding PK Thomas 1993 The sensory neuropathy of Friedreich's ataxia: an autopsy study of a case with prolonged survival Acta Neuropathol 86 29 35 10.1007/BF00454895 1:STN:280:DyaK3szotlKmsw%3D%3D 8372639
-
(1993)
Acta Neuropathol
, vol.86
, pp. 29-35
-
-
Jitpimolmard, S.1
Small, J.2
King, R.H.M.3
Geddes, J.4
Misra, P.5
McLaughlin, J.6
Muddle, J.R.7
Cole, M.8
Harding, A.E.9
Thomas, P.K.10
-
17
-
-
71449093193
-
The dorsal root ganglion in Friedreich's ataxia
-
10.1007/s00401-009-0589-x 19727777
-
AH Koeppen JA Morral AN Davis J Qian SV Petrocine MD Knutson WM Gibson MJ Cusack D Li 2009 The dorsal root ganglion in Friedreich's ataxia Acta Neuropathol 118 763 776 10.1007/s00401-009-0589-x 19727777
-
(2009)
Acta Neuropathol
, vol.118
, pp. 763-776
-
-
Koeppen, A.H.1
Morral, J.A.2
Davis, A.N.3
Qian, J.4
Petrocine, S.V.5
Knutson, M.D.6
Gibson, W.M.7
Cusack, M.J.8
Li, D.9
-
18
-
-
34547119562
-
The dentate nucleus in Friedreich's ataxia: The role of iron-responsive proteins
-
DOI 10.1007/s00401-007-0220-y
-
AH Koeppen SC Michael MD Knutson DJ Haile J Qian S Levi P Santambrogio MD Garrick JB Lamarche 2007 The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins Acta Neuropathol 114 163 173 10.1007/s00401-007- 0220-y 1:CAS:528:DC%2BD2sXns1ynu78%3D 17443334 (Pubitemid 47103527)
-
(2007)
Acta Neuropathologica
, vol.114
, Issue.2
, pp. 163-173
-
-
Koeppen, A.H.1
Michael, S.C.2
Knutson, M.D.3
Haile, D.J.4
Qian, J.5
Levi, S.6
Santambrogio, P.7
Garrick, M.D.8
Lamarche, J.B.9
-
19
-
-
0000545489
-
Sensory ganglia
-
D.N. Landon (eds). Chapman Hall London
-
Lieberman AR (1976) Sensory ganglia. In: Landon DN (ed) The peripheral nerve. Chapman Hall, London, pp 188-278
-
(1976)
The Peripheral Nerve
, pp. 188-278
-
-
Lieberman, A.R.1
-
21
-
-
0031905780
-
A mild case of friedreich ataxia: Lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism
-
DOI 10.1002/(SICI)1097-4598(199803)21:3<390::AID-MUS13>3.0.CO;2-3
-
H Machkhas SI Bidichandani PI Patel Y Harati 1998 A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism Muscle Nerve 21 390 393 10.1002/(SICI)1097- 4598(199803)21:3<390::AID-MUS13>3.0.CO;2-3 1:STN:280:DyaK1c7ks1aruw%3D%3D 9486868 (Pubitemid 28096049)
-
(1998)
Muscle and Nerve
, vol.21
, Issue.3
, pp. 390-393
-
-
Machkhas, H.1
Bidichandani, S.I.2
Patel, P.I.3
Harati, Y.4
-
22
-
-
4344690189
-
Neural crest boundary cap cells constitute a source of neuronal and glial cells of the PNS
-
DOI 10.1038/nn1299
-
GS Maro M Vermeren O Voiculescu L Melton J Cohen P Charnay P Topilko 2004 Neural crest boundary cap cells constitute a source of neuronal and glial cells in the PNS Nat Neurosci 7 930 938 10.1038/nn1299 1:CAS:528:DC%2BD2cXmvFyqurw%3D 15322547 (Pubitemid 39129501)
-
(2004)
Nature Neuroscience
, vol.7
, Issue.9
, pp. 930-938
-
-
Marol, G.S.1
Vermeren, M.2
Voiculescu, O.3
Melton, L.4
Cohen, J.5
Charnay, P.6
Topilko, P.7
-
23
-
-
0015024438
-
An electrophysiological and pathological study of peripheral nerves in Friedreich's ataxia
-
10.1016/0022-510X(71)90067-0 1:STN:280:DyaE3M7ltlWqsw%3D%3D 5550263
-
JG McLeod 1971 An electrophysiological and pathological study of peripheral nerves in Friedreich's ataxia J Neurol Sci 12 333 349 10.1016/0022-510X(71)90067-0 1:STN:280:DyaE3M7ltlWqsw%3D%3D 5550263
-
(1971)
J Neurol Sci
, vol.12
, pp. 333-349
-
-
McLeod, J.G.1
-
24
-
-
0004675546
-
Case of Friedreich's disease, with autopsy and systematic microscopical examination of the nervous system
-
FW Mott 1907 Case of Friedreich's disease, with autopsy and systematic microscopical examination of the nervous system Arch Neurol Psychiatry (London) 3 180 200
-
(1907)
Arch Neurol Psychiatry (London)
, vol.3
, pp. 180-200
-
-
Mott, F.W.1
-
25
-
-
0034950232
-
Caruso G (2001) Small fiber involvement in Friedreich's ataxia
-
10.1002/ana.1283 1:STN:280:DC%2BD38%2FitFOgsw%3D%3D 11456305
-
M Nolano V Provitera C Crisci AM Saltalamacchia G Wendelschafer-Crabb WR Kennedy A Filla L Santoro 2001 Caruso G (2001) Small fiber involvement in Friedreich's ataxia Ann Neurol 50 17 25 10.1002/ana.1283 1:STN:280: DC%2BD38%2FitFOgsw%3D%3D 11456305
-
(2001)
Ann Neurol
, vol.50
, pp. 17-25
-
-
Nolano, M.1
Provitera, V.2
Crisci, C.3
Saltalamacchia, A.M.4
Wendelschafer-Crabb, G.5
Kennedy, W.R.6
Filla, A.7
Santoro, L.8
-
26
-
-
0029873432
-
Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood
-
10.1177/088307389601100214 1:STN:280:DyaK2s%2Fjs1ensQ%3D%3D 8881991
-
R Ouvrier 1996 Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood J Child Neurol 11 133 146 10.1177/088307389601100214 1:STN:280:DyaK2s%2Fjs1ensQ%3D%3D 8881991
-
(1996)
J Child Neurol
, vol.11
, pp. 133-146
-
-
Ouvrier, R.1
-
27
-
-
0019979781
-
Friedreich's ataxia. Early detection and progression of peripheral nerve abnormalities
-
DOI 10.1016/0022-510X(82)90095-8
-
RA Ouvrier JG McLeod TE Conchin 1982 Friedreich's ataxia. Early detection and progression of peripheral nerve abnormalities J Neurol Sci 55 137 145 10.1016/0022-510X(82)90095-8 1:STN:280:DyaL3s%2Fjt1Kjug%3D%3D 6290609 (Pubitemid 12096981)
-
(1982)
Journal of the Neurological Sciences
, vol.55
, Issue.2
, pp. 137-145
-
-
Ouvrier, R.A.1
McLeod, J.G.2
Conchin, T.E.3
-
28
-
-
54049142098
-
Friedreich ataxia
-
10.1001/archneur.65.10.1296 18852343
-
M Pandolfo 2008 Friedreich ataxia Arch Neurol 65 1296 1303 10.1001/archneur.65.10.1296 18852343
-
(2008)
Arch Neurol
, vol.65
, pp. 1296-1303
-
-
Pandolfo, M.1
-
29
-
-
0022483582
-
Hypotrophic and dying back nerve fibers in Friedreich's ataxia
-
1:STN:280:DyaL2s%2FhsFalsA%3D%3D 3762933
-
G Said M-H Marion J Selva C Jamet 1986 Hypotrophic and dying back nerve fibers in Friedreich's ataxia Neurology 36 1292 1299 1:STN:280: DyaL2s%2FhsFalsA%3D%3D 3762933
-
(1986)
Neurology
, vol.36
, pp. 1292-1299
-
-
Said, G.1
Marion, M.-H.2
Selva, J.3
Jamet, C.4
-
30
-
-
0025295881
-
Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients
-
DOI 10.1002/mus.880130610
-
L Santoro A Perretti C Crisci M Ragno R Massini A Filla G De Michele G Caruso 1990 Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients Muscle Nerve 13 536 540 10.1002/mus.880130610 1:STN:280:DyaK3czgvF2jsg%3D%3D 2366825 (Pubitemid 20173583)
-
(1990)
Muscle and Nerve
, vol.13
, Issue.6
, pp. 536-540
-
-
Santoro, L.1
Perretti, A.2
Crisci, C.3
Ragno, M.4
Massini, R.5
Filla, A.6
De Michele, G.7
Caruso, G.8
-
31
-
-
0033064265
-
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia
-
10.1136/jnnp.66.1.93 1:STN:280:DyaK1M7gtFGmsQ%3D%3D 9886462
-
L Santoro G De Michele A Perretti C Crisci S Cocozza F Cavalcanti M Ragno A Monticelli A Filla G Caruso 1999 Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia J Neurol Neurosurg Psychiat 66 93 96 10.1136/jnnp.66.1.93 1:STN:280:DyaK1M7gtFGmsQ%3D%3D 9886462
-
(1999)
J Neurol Neurosurg Psychiat
, vol.66
, pp. 93-96
-
-
Santoro, L.1
De Michele, G.2
Perretti, A.3
Crisci, C.4
Cocozza, S.5
Cavalcanti, F.6
Ragno, M.7
Monticelli, A.8
Filla, A.9
Caruso, G.10
-
32
-
-
0020032308
-
Distribution of S-100 protein outside the central nervous system
-
DOI 10.1016/0006-8993(82)90871-X
-
K Stefansson RL Wollmann BW Moore 1982 Distribution of S-100 protein outside the central nervous system Brain Res 234 309 317 10.1016/0006-8993(82) 90871-X 1:CAS:528:DyaL38XhtF2lur0%3D 7059833 (Pubitemid 12175897)
-
(1982)
Brain Research
, vol.234
, Issue.2
, pp. 309-317
-
-
Stefansson, K.1
Wollmann, R.L.2
Moore, B.W.3
-
33
-
-
20144386601
-
Impeded interaction between Schwann cells and axons in the absence of laminin α4
-
10.1523/JNEUROSCI.5225-04.2005 1:CAS:528:DC%2BD2MXjtlSis7o%3D 15814800
-
W Wallquist S Plantman S Thams J Thyboll J Kortesmaa J Lännergren A Domogatskaya SO Ögren M Risling H Hammarberg K Tryggvason S Cullheim 2005 Impeded interaction between Schwann cells and axons in the absence of laminin α4 J Neurosci 25 3692 3700 10.1523/JNEUROSCI.5225-04.2005 1:CAS:528:DC%2BD2MXjtlSis7o%3D 15814800
-
(2005)
J Neurosci
, vol.25
, pp. 3692-3700
-
-
Wallquist, W.1
Plantman, S.2
Thams, S.3
Thyboll, J.4
Kortesmaa, J.5
Lännergren, J.6
Domogatskaya, A.7
Ögren, S.O.8
Risling, M.9
Hammarberg, H.10
Tryggvason, K.11
Cullheim, S.12
|