-
2
-
-
79551474508
-
The death panel for Charcot-Marie-Tooth panels
-
21280068 10.1002/ana.22272
-
AA Amato MM Reilly 2011 The death panel for Charcot-Marie-Tooth panels Ann Neurol 69 1 4 21280068 10.1002/ana.22272
-
(2011)
Ann Neurol
, vol.69
, pp. 1-4
-
-
Amato, A.A.1
Reilly, M.M.2
-
3
-
-
17844366813
-
Correction of cavovarus foot deformity in Charcot-Marie-Tooth disease
-
DOI 10.1097/01.bpo.0000150807.90052.98
-
Z Azmaipairashvili EC Riddle M Scavina SJ Kumar 2005 Correction of cavovarus foot deformity in Charcot-Marie-Tooth disease J Pediatr Orthop 25 360 365 15832156 10.1097/01.bpo.0000150807.90052.98 (Pubitemid 40594078)
-
(2005)
Journal of Pediatric Orthopaedics
, vol.25
, Issue.3
, pp. 360-365
-
-
Azmaipairashvili, Z.1
Riddle, E.C.2
Scavina, M.3
Kumar, S.J.4
-
4
-
-
0024554331
-
The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I
-
DOI 10.1002/mus.880120408
-
J Berciano O Combarros PoloJM Calleja C Leno 1989 The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I Muscle Nerve 12 302 306 2770783 10.1002/mus.880120408 1:STN:280:DyaL1MzmsV2rtg%3D%3D (Pubitemid 19099737)
-
(1989)
Muscle and Nerve
, vol.12
, Issue.4
, pp. 302-306
-
-
Berciano, J.1
Combarros, O.2
Calleja, J.3
Polo, J.M.4
Leno, C.5
-
5
-
-
0034255676
-
Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication
-
DOI 10.1016/S0960-8966(99)00114-5, PII S0960896699001145
-
J Berciano A García J Calleja O Combarros 2000 Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication Neuromuscul Disord 10 419 424 10899448 10.1016/S0960-8966(99)00114-5 1:STN:280: DC%2BD3cvjtlWisw%3D%3D (Pubitemid 30433812)
-
(2000)
Neuromuscular Disorders
, vol.10
, Issue.6
, pp. 419-424
-
-
Berciano, J.1
Garcia, A.2
Calleja, J.3
Combarros, O.4
-
6
-
-
0142155686
-
Hereditary neuropathies
-
DOI 10.1097/00019052-200310000-00008
-
J Berciano O Combarros 2003 Hereditary neuropathies Curr Opin Neurol 16 613 622 14501846 10.1097/00019052-200310000-00008 (Pubitemid 37304038)
-
(2003)
Current Opinion in Neurology
, vol.16
, Issue.5
, pp. 613-622
-
-
Berciano, J.1
Combarros, O.2
-
7
-
-
0037231138
-
Initial semeiology in children with Charcot-Marie-Tooth disease 1A duplication
-
DOI 10.1002/mus.10299
-
J Berciano A García O Combarros 2003 Initial semeiology in children with Charcot-Marie-Tooth disease 1A duplication Muscle Nerve 27 34 39 12508292 10.1002/mus.10299 (Pubitemid 36083441)
-
(2003)
Muscle and Nerve
, vol.27
, Issue.1
, pp. 34-39
-
-
Berciano, J.1
Garcia, A.2
Combarros, O.3
-
8
-
-
33745699840
-
Pes cavus pathogenesis in Charcot-Marie-Tooth disease type 1A [4]
-
DOI 10.1093/brain/awl117
-
J Berciano E Gallardo A García O Combarros 2006 Pes cavus pathogenesis in Charcot-Marie-Tooth disease type 1A Brain 129 e51 10.1093/brain/awl117 (Pubitemid 43999395)
-
(2006)
Brain
, vol.129
, Issue.7
-
-
Berciano, J.1
Gallardo, E.2
Garcia, A.3
Combarros, O.4
-
9
-
-
58449103365
-
CMT1A duplication: Refining the minimal adult phenotype
-
19192073 10.1111/j.1529-8027.2008.00199.x
-
J Berciano E Gallardo A García C Ramón I Mateo J Infante E Rodríguez-Rodríguez O Combarros 2008 CMT1A duplication: refining the minimal adult phenotype J Peripher Nerv Syst 13 310 312 19192073 10.1111/j.1529-8027.2008.00199.x
-
(2008)
J Peripher Nerv Syst
, vol.13
, pp. 310-312
-
-
Berciano, J.1
Gallardo, E.2
García, A.3
Ramón, C.4
Mateo, I.5
Infante, J.6
Rodríguez-Rodríguez, E.7
Combarros, O.8
-
10
-
-
33846303532
-
Comparison of CMT1A and CMT2: Similarities and differences
-
DOI 10.1007/s00415-006-0260-6
-
HM Bienfait C Verhamme IN van Schaik JH Koelman BW de Visser RJ de Haan F Baas BG van Engelen M de Visser 2006 Comparison of CMT1A and CMT2: similarities and differences J Neurol 253 1572 1580 16941080 10.1007/s00415-006-0260-6 (Pubitemid 46115438)
-
(2006)
Journal of Neurology
, vol.253
, Issue.12
, pp. 1572-1580
-
-
Bienfait, H.M.E.1
Verhamme, C.2
Van Schaik, I.N.3
Koelman, J.H.T.M.4
De Visser, B.W.O.5
De Haan, R.J.6
Baas, F.7
Van Engelen, B.G.M.8
De Visser, M.9
-
11
-
-
0030919339
-
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
-
DOI 10.1093/brain/120.5.813
-
N Birouk R Gouider E Le Guern M Gugenheim S Tardieu T Maisonobe N Le Forestier Y Agid A Brice P Bouche 1997 Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases Brain 120 813 823 9183252 10.1093/brain/120.5.813 (Pubitemid 27222986)
-
(1997)
Brain
, vol.120
, Issue.5
, pp. 813-823
-
-
Birouk, N.1
Gouider, R.2
Guern, E.L.3
Gugenheim, M.4
Tardieu, S.5
Maisonobe, T.6
Forestier, N.L.7
Agid, Y.8
Brice, A.9
Bouche, P.10
-
12
-
-
0021061363
-
Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study
-
DOI 10.1016/0022-510X(83)90172-7
-
P Bouché R Gherardi HP Cathala F Lhermitte P Castaigne 1983 Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study J Neurol Sci 61 389 399 6317809 10.1016/0022-510X(83)90172-7 (Pubitemid 14234267)
-
(1983)
Journal of the Neurological Sciences
, vol.61
, Issue.3
, pp. 389-399
-
-
Bouche, P.1
Gherardi, R.2
Cathala, H.P.3
-
13
-
-
18944368057
-
Weight bearing ankle dorsiflexion range of motion in idiopathic pes cavus compared to normal and pes planus feet
-
DOI 10.1016/j.foot.2005.03.003, PII S0958259205000337
-
J Burns J Crosbie 2005 Weight bearing ankle dorsiflexion range of motion in idiopathic pes cavus compared with normal and pes cavus feet The Foot 15 91 94 10.1016/j.foot.2005.03.003 (Pubitemid 40704387)
-
(2005)
Foot
, vol.15
, Issue.2
, pp. 91-94
-
-
Burns, J.1
Crosbie, J.2
-
14
-
-
60549084532
-
Evolution of foot and ankle manifestations in children with CMT1A
-
19145658 10.1002/mus.21140
-
J Burns MM Ryan RA Ouvrier 2009 Evolution of foot and ankle manifestations in children with CMT1A Muscle Nerve 39 158 166 19145658 10.1002/mus.21140
-
(2009)
Muscle Nerve
, vol.39
, pp. 158-166
-
-
Burns, J.1
Ryan, M.M.2
Ouvrier, R.A.3
-
15
-
-
48549088834
-
Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A
-
18602827 10.1016/j.nmd.2008.05.012 1:STN:280:DC%2BD1crgsleluw%3D%3D
-
KW Chung BC Suh ME Shy SY Cho JH Yoo SW Park H Moon KD Park KG Choi S Kim SB Kim DS Shim SM Kim IN Sunwoo BO Choi 2008 Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A Neuromuscul Disord 18 610 618 18602827 10.1016/j.nmd.2008.05.012 1:STN:280:DC%2BD1crgsleluw%3D%3D
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 610-618
-
-
Chung, K.W.1
Suh, B.C.2
Shy, M.E.3
Cho, S.Y.4
Yoo, J.H.5
Park, S.W.6
Moon, H.7
Park, K.D.8
Choi, K.G.9
Kim, S.10
Kim, S.B.11
Shim, D.S.12
Kim, S.M.13
Sunwoo, I.N.14
Choi, B.O.15
-
16
-
-
0023113382
-
Prevalence of hereditary motor and sensory neuropathy in Cantabria
-
O Combarros J Calleja JM Polo J Berciano 1987 Prevalence of hereditary motor and sensory neuropathy in Cantabria Acta Neurol Scand 75 9 12 3472423 10.1111/j.1600-0404.1987.tb07882.x 1:STN:280:DyaL2s3gvV2gtw%3D%3D (Pubitemid 17027274)
-
(1987)
Acta Neurologica Scandinavica
, vol.75
, Issue.1
, pp. 9-12
-
-
Combarros, O.1
Calleja, J.2
Polo, J.M.3
Berciano, J.4
-
17
-
-
0004302526
-
-
Descriptive and applied. Longmans London
-
Davies DV, Coupland RE (1974) Gray's anatomy. Descriptive and applied. Longmans, London, pp 727-736
-
(1974)
Gray's Anatomy
, pp. 727-736
-
-
Davies, D.V.1
Coupland, R.E.2
-
18
-
-
31544445351
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies
-
PJ Dyck EH Lambert 1968 Lower motor and primary sensory neuron diseases with peroneal muscular atrophy I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies Arch Neurol 39 1032 1038
-
(1968)
Arch Neurol
, vol.39
, pp. 1032-1038
-
-
Dyck, P.J.1
Lambert, E.H.2
-
19
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
P.J. Dyck P.K. Thomas J.W. Griffin P.A. Low J.F. Poduslo (eds). 3 WB Saunders Co Philadelphia
-
Dyck PJ, Chance P, Lebo R, Carney AJ (1993) Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy, 3rd edn. WB Saunders Co, Philadelphia, pp 1094-1136
-
(1993)
Peripheral Neuropathy
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, A.J.4
-
20
-
-
0036759297
-
MR imaging in nonneoplastic muscle disorders of the lower extremity
-
DOI 10.1016/S0033-8389(02)00049-0, PII S0033838902000490
-
JM Farber KA Buckwalter 2002 MR imaging in nonneoplastic muscle disorders of the lower extremity Radiol Clin N Am 40 1013 1031 12462466 10.1016/S0033-8389(02)00049-0 (Pubitemid 35379486)
-
(2002)
Radiologic Clinics of North America
, vol.40
, Issue.5
, pp. 1013-1031
-
-
Farber, J.M.1
Buckwalter, K.A.2
-
21
-
-
0027450935
-
Denervated human skeletal muscle: MR imaging evaluation
-
JL Fleckenstein D Watumull KE Conner M Ezaki RG Greenlee Jr WW Bryan DP Chason RW Parkey RM Peshock PD Purdy 1993 Denervated human skeletal muscle: MR imaging evaluation Radiology 187 213 218 8451416 1:STN:280:DyaK3s7pslGjuw%3D%3D (Pubitemid 23097887)
-
(1993)
Radiology
, vol.187
, Issue.1
, pp. 213-218
-
-
Fleckenstein, J.L.1
Watumull, D.2
Conner, K.E.3
Ezaki, M.4
Greenlee Jr., R.G.5
Bryan, W.W.6
Chason, D.P.7
Parkey, R.W.8
Peshock, R.M.9
Purdy, P.D.10
-
22
-
-
0026514249
-
Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I)
-
1564512 10.1016/0022-510X(92)90282-P
-
AA Gabreëls-Festen EM Joosten FJ Gabreëls FG Jennekens TW Janssen-van Kempen 1992 Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I) J Neurol Sci 107 145 154 1564512 10.1016/0022-510X(92)90282-P
-
(1992)
J Neurol Sci
, vol.107
, pp. 145-154
-
-
Gabreëls-Festen, A.A.1
Joosten, E.M.2
Gabreëls, F.J.3
Jennekens, F.G.4
Janssen-Van Kempen, T.W.5
-
23
-
-
31544441021
-
Charcot-Marie-Tooth disease type 1A duplication: Spectrum of clinical and magnetic resonance imaging features in leg and foot muscles
-
DOI 10.1093/brain/awh693
-
E Gallardo A García O Combarros J Berciano 2006 Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles Brain 129 426 437 16317020 10.1093/brain/awh693 (Pubitemid 43164366)
-
(2006)
Brain
, vol.129
, Issue.2
, pp. 426-437
-
-
Gallardo, E.1
Garcia, A.2
Combarros, O.3
Berciano, J.4
-
24
-
-
0031900413
-
Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: A longitudinal clinical and electrophysiologic study
-
A García O Combarros J Calleja J Berciano 1998 Charcot-Marie-Tooth disease type 1A with 17p duplication in early infancy and childhood A longitudinal clinical and electrophysiological study Neurology 50 1061 1067 9566395 (Pubitemid 28212838)
-
(1998)
Neurology
, vol.50
, Issue.4
, pp. 1061-1067
-
-
Garcia, A.1
Combarros, O.2
Calleja, J.3
Berciano, J.4
-
25
-
-
43449137032
-
Differential diagnosis of polyneuropathy
-
P.J. Dyck P.K. Thomas (eds). Elsevier Saunders Philadelphia
-
Grant IA, Benstead TJ (2005) Differential diagnosis of polyneuropathy. In: Dyck PJ, Thomas PK (eds) Peripheral neuropathy. Elsevier Saunders, Philadelphia, pp 1163-1180
-
(2005)
Peripheral Neuropathy
, pp. 1163-1180
-
-
Grant, I.A.1
Benstead, T.J.2
-
26
-
-
33750564961
-
Current concepts review: Orthopaedic aspects of Charcot-Marie-Tooth disease
-
GP Guyton 2006 Current concepts review: orthopaedic aspects of Charcot-Marie-Tooth disease Foot Ankle Int 27 1003 1010 17144969 (Pubitemid 44672487)
-
(2006)
Foot and Ankle International
, vol.27
, Issue.11
, pp. 1003-1010
-
-
Guyton, G.P.1
-
27
-
-
0029058673
-
From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins
-
7541290 10.1093/brain/118.3.809
-
AE Harding 1995 From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins Brain 118 809 818 7541290 10.1093/brain/118.3.809
-
(1995)
Brain
, vol.118
, pp. 809-818
-
-
Harding, A.E.1
-
28
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types I and II
-
AE Harding PK Thomas 1980 The clinical features of hereditary motor and sensory neuropathy types I and II Brain 103 259 280 7397478 10.1093/brain/103.2. 259 1:STN:280:DyaL3c3ktlCltQ%3D%3D (Pubitemid 10046623)
-
(1980)
Brain
, vol.103
, Issue.2
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
29
-
-
0027425232
-
Foot and ankle manifestations of Charcot-Marie-Tooth disease
-
JR Holmes ST Hansen Jr 1993 Foot and ankle manifestations of Charcot-Marie-Tooth disease Foot Ankle 14 476 486 8253442 1:STN:280: DyaK2c%2FnsV2mug%3D%3D (Pubitemid 23317062)
-
(1993)
Foot and Ankle
, vol.14
, Issue.8
, pp. 476-486
-
-
Holmes, J.R.1
Hansen Jr., S.T.2
-
30
-
-
0028137741
-
Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype
-
DOI 10.1002/mus.880170112
-
JE Hoogendijk M De Visser PA Bolhuis AA Hart BW Ongerboer de Visser 1994 Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype Muscle Nerve 17 85 90 8264707 10.1002/mus.880170112 1:STN:280:DyaK2c%2FovVKmsg%3D%3D (Pubitemid 24012107)
-
(1994)
Muscle and Nerve
, vol.17
, Issue.1
, pp. 85-90
-
-
Hoogendijk, J.E.1
De Visser, M.2
Bolhuis, P.A.3
Hart, A.A.M.4
De Visser, B.W.O.5
-
31
-
-
0021042494
-
Evaluation of the cavus foot for orthopedic treatment
-
MH Jahss 1983 Evaluation of the cavus foot for orthopedic treatment Clin Orthop Relat Res 181 52 63 6641067 (Pubitemid 14215200)
-
(1983)
Clinical Orthopaedics and Related Research
, vol.NO. 181
, pp. 52-63
-
-
Jahss, M.H.1
-
32
-
-
0027518166
-
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17
-
DA Kaku GJ Parry R Malamut JR Lupski CA Garcia 1993 Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17 Neurology 43 1806 1808 8414036 1:STN:280: DyaK2c%2FitVeisg%3D%3D (Pubitemid 23307959)
-
(1993)
Neurology
, vol.43
, Issue.9
, pp. 1806-1808
-
-
Kaku, D.A.1
Parry, G.J.2
Malamut, R.3
Lupski, J.R.4
Garcia, C.A.5
-
33
-
-
0027753971
-
Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1
-
Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology 43: 2664-2667
-
Neurology
, vol.43
, pp. 2664-2667
-
-
Kaku, D.A.1
Parry, G.J.2
Malamut, R.3
Lupski, J.R.4
Garcia, C.A.5
-
35
-
-
0033921060
-
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
-
KM Krajewski RA Lewis DR Fuerst C Turansky SR Hinderer J Garbern J Kamholz ME Shy 2000 Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A Brain 123 1516 1527 10869062 10.1093/brain/123.7.1516 (Pubitemid 30420950)
-
(2000)
Brain
, vol.123
, Issue.7
, pp. 1516-1527
-
-
Krajewski, K.M.1
Lewis, R.A.2
Fuerst, D.R.3
Turansky, C.4
Hinderer, S.R.5
Garbern, J.6
Kamholz, J.7
Shy, M.E.8
-
36
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
JR Lupski RM de Oca-Luna S Slaugenhaupt L Pentao V Guzzetta BJ Trask O Saucedo-Cardenas DF Barker JM Killian CA Garcia A Chakravarti PI Patel 1991 DNA duplication associated with Charcot-Marie-Tooth disease type 1A Cell 66 219 232 1677316 10.1016/0092-8674(91)90613-4 1:CAS:528:DyaK3MXltVOlsbg%3D (Pubitemid 121001361)
-
(1991)
Cell
, vol.66
, Issue.2
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
Chakravarti, A.11
Patel, P.I.12
-
37
-
-
0023722767
-
Pathophysiology of Charcot-Marie-Tooth disease
-
3409580
-
RA Mann J Missirian 1988 Pathophysiology of Charcot-Marie-Tooth disease Clin Orthop Relat Res 234 221 228 3409580
-
(1988)
Clin Orthop Relat Res
, vol.234
, pp. 221-228
-
-
Mann, R.A.1
Missirian, J.2
-
38
-
-
23944460142
-
17p duplicated Charcot-Marie-Tooth 1A: Characteristics of a new population
-
DOI 10.1007/s00415-005-0797-9
-
W Marques Jr MR Freitas OJ Nascimento AB Oliveira L Calia A Melo R Lucena V Rocha AA Barreira 2005 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population J Neurol 252 972 979 15765265 10.1007/s00415-005-0797-9 1:CAS:528:DC%2BD2MXhtFegtb7K (Pubitemid 41186971)
-
(2005)
Journal of Neurology
, vol.252
, Issue.8
, pp. 972-979
-
-
Marques Jr., W.1
Freitas, M.R.2
Nascimento, O.J.M.3
Oliveira, A.B.4
Calia, L.5
Melo, A.6
Lucena, R.7
Rocha, V.8
Barreira, A.A.9
-
39
-
-
0034297903
-
Abnormal signal intensity in skeletal muscle at MR imaging: Patterns, pearls, and pitfalls
-
DA May DG Disler EA Jones AA Balkissoon BJ Manaster 2000 Abnormal signal intensity in skeletal muscle at MR imaging: patterns, pearls, and pitfalls RadoGraphics 20 S295 S313
-
(2000)
RadoGraphics
, vol.20
-
-
May, D.A.1
Disler, D.G.2
Jones, E.A.3
Balkissoon, A.A.4
Manaster, B.J.5
-
40
-
-
33748636447
-
Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet
-
DOI 10.1097/01.bpo.0000226278.16449.c4, PII 0124139820060700000003
-
MK Nagai G Chan JT Guille SJ Kumar M Scavina WG Mackenzie 2006 Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet J Pediatr Orthop 26 438 443 16791058 10.1097/01.bpo.0000226278.16449.c4 (Pubitemid 44384905)
-
(2006)
Journal of Pediatric Orthopaedics
, vol.26
, Issue.4
, pp. 438-443
-
-
Nagai, M.K.1
Chan, G.2
Guille, J.T.3
Kumar, S.J.4
Scavina, M.5
Mackenzie, W.G.6
-
41
-
-
0029863589
-
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure passies: A European collaborative study
-
E Nelis C Van Broeckhoven P De Jonghe A Löfgren A Vandenberghe P Latour E Le Guern A Brice ML Mostacciuolo F Schiavon F Palau S Bort M Upadhyaya M Rocchi N Archidiacono P Mandich E Bellone K Silander ML Savontaus R Navon H Goldberg-Stern X Estivill V Volpini W Friedl A Gal, et al. 1996 Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study Eur J Hum Genet 4 25 33 8800924 1:CAS:528:DyaK28XisFOqu74%3D (Pubitemid 26094167)
-
(1996)
European Journal of Human Genetics
, vol.4
, Issue.1
, pp. 25-33
-
-
Nelis, E.1
Van Broeckhoven, C.2
-
42
-
-
0025892749
-
Penetrance of the hereditary motor and sensory neuropathy Ia mutation: Assessment by nerve conduction studies
-
2011255 1:STN:280:DyaK3M7oslaitQ%3D%3D
-
GA Nicholson 1991 Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies Neurology 41 547 552 2011255 1:STN:280:DyaK3M7oslaitQ%3D%3D
-
(1991)
Neurology
, vol.41
, pp. 547-552
-
-
Nicholson, G.A.1
-
43
-
-
33646230023
-
The dominantly inherited motor and sensory neuropathies: Clinical and molecular advances
-
16392117 10.1002/mus.20477 1:CAS:528:DC%2BD28XkvVSmtb0%3D
-
GA Nicholson 2006 The dominantly inherited motor and sensory neuropathies: clinical and molecular advances Muscle Nerve 33 589 597 16392117 10.1002/mus.20477 1:CAS:528:DC%2BD28XkvVSmtb0%3D
-
(2006)
Muscle Nerve
, vol.33
, pp. 589-597
-
-
Nicholson, G.A.1
-
44
-
-
67649390851
-
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease
-
19539237 10.1016/S1474-4422(09)70110-3 1:CAS:528:DC%2BD1MXovVCitb8%3D
-
D Pareyson C Marchesi 2009 Diagnosis, natural history, and management of Charcot-Marie-Tooth disease Lancet Neurol 8 654 667 19539237 10.1016/S1474-4422(09)70110-3 1:CAS:528:DC%2BD1MXovVCitb8%3D
-
(2009)
Lancet Neurol
, vol.8
, pp. 654-667
-
-
Pareyson, D.1
Marchesi, C.2
-
45
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type Ia (CMT Ia)
-
1822787 10.1016/0960-8966(91)90055-W 1:STN:280:DyaK38zltlKqsQ%3D%3D
-
P Raeymaekers V Timmerman E Nelis P De Jonghe JE Hoogendijk F Baas DF Barker JJ Martin M De Visser PA Bolhuis 1991 Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type Ia (CMT Ia) Neuromuscul Disord 1 93 97 1822787 10.1016/0960-8966(91)90055-W 1:STN:280:DyaK38zltlKqsQ%3D%3D
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
De Jonghe, P.4
Hoogendijk, J.E.5
Baas, F.6
Barker, D.F.7
Martin, J.J.8
De Visser, M.9
Bolhuis, P.A.10
-
46
-
-
28444456375
-
Development and validation of a novel rating system for scoring standing foot posture: The Foot Posture Index
-
DOI 10.1016/j.clinbiomech.2005.08.002, PII S0268003305001804
-
AC Redmond J Crosbie RA Ouvrier 2006 Development and validation of a novel rating system for scoring standing foot posture: the Foot Posture Index Clin Biomech (Bristol, Avon) 21 89 98 10.1016/j.clinbiomech.2005.08.002 (Pubitemid 41728097)
-
(2006)
Clinical Biomechanics
, vol.21
, Issue.1
, pp. 89-98
-
-
Redmond, A.C.1
Crosbie, J.2
Ouvrier, R.A.3
-
47
-
-
60549087652
-
Normative values for the Foot Posture Index
-
18822155 10.1186/1757-1146-1-6
-
AC Redmond YZ Crane HB Menz 2008 Normative values for the Foot Posture Index J Foot Ankle Res 1 6 18822155 10.1186/1757-1146-1-6
-
(2008)
J Foot Ankle Res
, vol.1
, pp. 6
-
-
Redmond, A.C.1
Crane, Y.Z.2
Menz, H.B.3
-
48
-
-
0033782833
-
Classification of the hereditary motor and sensory neuropathies
-
11073363 10.1097/00019052-200010000-00009 1:STN:280: DC%2BD3crhsVCisw%3D%3D
-
MM Reilly 2000 Classification of the hereditary motor and sensory neuropathies Curr Opin Neurol 13 561 564 11073363 10.1097/00019052-200010000- 00009 1:STN:280:DC%2BD3crhsVCisw%3D%3D
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 561-564
-
-
Reilly, M.M.1
-
49
-
-
77950925330
-
Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A
-
19671887 10.1177/0883073809340698
-
KJ Rose J Burns KN North 2010 Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A J Child Neurol 25 463 468 19671887 10.1177/0883073809340698
-
(2010)
J Child Neurol
, vol.25
, pp. 463-468
-
-
Rose, K.J.1
Burns, J.2
North, K.N.3
-
52
-
-
0041653190
-
Hereditary motor and sensory neuropathies: A biological perspective
-
DOI 10.1016/S1474-4422(02)00042-X
-
ME Shy JY Garbern J Kamholz 2002 Hereditary motor and sensory neuropathies: a biological perspective Lancet Neurol 1 110 118 12849515 10.1016/S1474-4422(02)00042-X (Pubitemid 37163496)
-
(2002)
Lancet Neurology
, vol.1
, Issue.2
, pp. 110-118
-
-
Shy, M.E.1
Garbern, J.Y.2
Kamholz, J.3
-
53
-
-
16844381836
-
Reliability and validity of the CMT neuropathy score as a measure of disability
-
15824348 10.1212/01.WNL.0000156517.00615.A3 1:STN:280: DC%2BD2M7ptFektw%3D%3D
-
ME Shy J Blake K Krajewski DR Fuerst M Laura AF Hahn J Li RA Lewis M Reilly 2005 Reliability and validity of the CMT neuropathy score as a measure of disability Neurology 64 1209 1214 15824348 10.1212/01.WNL.0000156517.00615.A3 1:STN:280:DC%2BD2M7ptFektw%3D%3D
-
(2005)
Neurology
, vol.64
, pp. 1209-1214
-
-
Shy, M.E.1
Blake, J.2
Krajewski, K.3
Fuerst, D.R.4
Laura, M.5
Hahn, A.F.6
Li, J.7
Lewis, R.A.8
Reilly, M.9
-
54
-
-
38649125200
-
Reliability of clinical outcome measures in Charcot-Marie-Tooth disease
-
DOI 10.1016/j.nmd.2007.09.006, PII S0960896607007237
-
A Solari M Laurà E Salsano D Radice D Pareyson CMT-TRIAL Study Group 2008 Reliability of clinical outcome measures in Charcot-Marie-Tooth disease Neuromuscul Disord 18 19 26 17964785 10.1016/j.nmd.2007.09.006 1:STN:280:DC%2BD1c3gt1altg%3D%3D (Pubitemid 351173841)
-
(2008)
Neuromuscular Disorders
, vol.18
, Issue.1
, pp. 19-26
-
-
Solari, A.1
Laura, M.2
Salsano, E.3
Radice, D.4
Pareyson, D.5
-
55
-
-
67349116532
-
Charcot-Marie-Tooth disease
-
19277060 10.1038/ejhg.2009.31 1:CAS:528:DC%2BD1MXmtFKnsrc%3D
-
K Szigeti JR Lupski 2009 Charcot-Marie-Tooth disease Eur J Hum Genet 17 703 710 19277060 10.1038/ejhg.2009.31 1:CAS:528:DC%2BD1MXmtFKnsrc%3D
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 703-710
-
-
Szigeti, K.1
Lupski, J.R.2
-
56
-
-
0030985749
-
The phenotypic manifestations of chromosome 17p11.2 duplication
-
DOI 10.1093/brain/120.3.465
-
PK Thomas W Marques Jr MB Davis MG Sweeney RH King JL Bradley JR Muddle J Tyson S Malcolm AE Harding 1997 The phenotypic manifestations of chromosome 17p11.2 duplication Brain 120 465 478 9126058 10.1093/brain/120.3.465 (Pubitemid 27153639)
-
(1997)
Brain
, vol.120
, Issue.3
, pp. 465-478
-
-
Thomas, P.K.1
Marques Jr., W.2
Davis, M.B.3
Sweeney, M.G.4
King, R.H.M.5
Bradley, J.L.6
Muddle, J.R.7
Tyson, J.8
Malcolm, S.9
Harding, A.E.10
-
57
-
-
0027068223
-
Investigation of muscle imbalance in the leg in symptomatic forefoot pes cavus: A multidisciplinary study
-
MC Tynan L Klenerman TR Helliwell RH Edwards M Hayward 1992 Investigation of muscle imbalance in the leg in symptomatic forefoot pes cavus: a multidisciplinary study Foot Ankle 13 489 501 1478577 1:STN:280: DyaK3s7it1KrsA%3D%3D (Pubitemid 23039058)
-
(1992)
Foot and Ankle
, vol.13
, Issue.9
, pp. 489-501
-
-
Tynan, M.C.1
Klenerman, L.2
Helliwell, T.R.3
Edwards, R.H.T.4
Hayward, M.5
-
59
-
-
34547948233
-
Lower limb manual muscle testing in the early stages of Charcot-Marie-Tooth disese type 1A
-
P Vinci M Serrao F Pierelli G Sandrini V Santilli 2006 Lower limb manual muscle testing in the early stages of Charcot-Marie-Tooth disease type 1A Funct Neurol 21 159 163 17049135 (Pubitemid 44823555)
-
(2006)
Functional Neurology
, vol.21
, Issue.3
, pp. 159-163
-
-
Vinci, P.1
Serrao, M.2
Pierelli, F.3
Sandrini, G.4
Santilli, V.5
|