-
1
-
-
67650240388
-
Diagnostic criteria for late-onset (childhood and adult) Pompe disease
-
American Association of Neuromuscular & Electrodiagnostic Medicine,19533647
-
Diagnostic criteria for late-onset (childhood and adult) Pompe disease. American Association of Neuromuscular & Electrodiagnostic Medicine, Muscle Nerve 2009 40 149 60 19533647
-
(2009)
Muscle Nerve
, vol.40
, pp. 149-160
-
-
-
2
-
-
33745589302
-
Pompe disease diagnosis and management guideline
-
DOI 10.1097/01.gim.0000218152.87434.f3, PII 0012581720060500000001
-
Pompe disease diagnosis and management guideline. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS, Genet Med 2006 8 267 88 10.1097/01.gim.0000218152.87434.f3 16702877 (Pubitemid 44297314)
-
(2006)
Genetics in Medicine
, vol.8
, Issue.5
, pp. 267-288
-
-
Kishnani, P.S.1
Steiner, R.D.2
Bali, D.3
Berger, K.4
Byrne, B.J.5
Case, L.6
Crowley, J.F.7
Downs, S.8
Howell, R.R.9
Kravitz, R.M.10
Mackey, J.11
Marsden, D.12
Martins, A.M.13
Millington, D.S.14
Nicolino, M.15
O'Grady, G.16
Patterson, M.C.17
Rapoport, D.M.18
Slonim, A.19
Spencer, C.T.20
Tifft, C.J.21
Watson, M.S.22
more..
-
3
-
-
38949192583
-
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
-
10.1016/j.ymgme.2007.09.006 18078773
-
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J, Pompe Disease Diagnostic Working Group, Mol Genet Metab 2008 93 275 81 10.1016/j.ymgme.2007.09.006 18078773
-
(2008)
Mol Genet Metab
, vol.93
, pp. 275-281
-
-
Winchester, B.1
Bali, D.2
Bodamer, O.A.3
Caillaud, C.4
Christensen, E.5
Cooper, A.6
Cupler, E.7
Deschauer, M.8
Fumić, K.9
Jackson, M.10
Kishnani, P.11
Lacerda, L.12
Ledvinová, J.13
Lugowska, A.14
Lukacs, Z.15
Maire, I.16
Mandel, H.17
Mengel, E.18
Müller-Felber, W.19
Piraud, M.20
Reuser, A.21
Rupar, T.22
Sinigerska, I.23
Szlago, M.24
Verheijen, F.25
Van Diggelen, O.P.26
Wuyts, B.27
Zakharova, E.28
Keutzer, J.29
more..
-
4
-
-
74849085443
-
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late onset glygogen storage disease type 2: 12-month results of an observational clinical trial
-
10.1007/s00415-009-5275-3 19649685
-
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late onset glygogen storage disease type 2: 12-month results of an observational clinical trial. Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B, J Neurol 2010 257 91 7 10.1007/s00415-009-5275-3 19649685
-
(2010)
J Neurol
, vol.257
, pp. 91-97
-
-
Strothotte, S.1
Strigl-Pill, N.2
Grunert, B.3
Kornblum, C.4
Eger, K.5
Wessig, C.6
Deschauer, M.7
Breunig, F.8
Glocker, F.X.9
Vielhaber, S.10
Brejova, A.11
Hilz, M.12
Reiners, K.13
Müller-Felber, W.14
Mengel, E.15
Spranger, M.16
Schoser, B.17
-
5
-
-
0038546958
-
Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy
-
DOI 10.1002/mus.10381
-
Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, van der Ploeg AT, Muscle Nerve 2003 27 743 751 10.1002/mus.10381 12766987 (Pubitemid 36667485)
-
(2003)
Muscle and Nerve
, vol.27
, Issue.6
, pp. 743-751
-
-
Winkel, L.P.F.1
Kamphoven, J.H.J.2
Van Den Hout, H.J.M.P.3
Severijnen, L.A.4
Van Doorn, P.A.5
Reuser, A.J.J.6
Van Der Ploeg, A.T.7
-
6
-
-
84880317428
-
Diagnosis of Pompe disease: Muscle biopsy vs blood-based assays
-
10.1001/2013.jamaneurol.486 23649721
-
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. Vissing J, Lukacs Z, Straub V, JAMA Neurol. 2013 70 923 7 10.1001/2013.jamaneurol.486 23649721
-
(2013)
JAMA Neurol.
, vol.70
, pp. 923-927
-
-
Vissing, J.1
Lukacs, Z.2
Straub, V.3
-
7
-
-
0032834144
-
Pathological features of glycogen storage disease type II highlighted in the knockout mouse model
-
DOI 10.1002/(SICI)1096-9896(199911)189:3<416::AID-PATH445>3.0.CO;2- 6
-
Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. Bijvoet AG, Van Hirtum H, Vermey M, Van Leenen D, Van Der Ploeg AT, Mooi WJ, Reuser AJ, J Pathol 1999 189 416 24 10.1002/(SICI)1096- 9896(199911)189:3<416::AID-PATH445>3.0.CO;2-6 10547605 (Pubitemid 29489228)
-
(1999)
Journal of Pathology
, vol.189
, Issue.3
, pp. 416-424
-
-
Bijvoet, A.G.A.1
Van Hirtum, H.2
Vermey, M.3
Van Leenen, D.4
Van Der Ploeg, A.T.5
Mooi, W.J.6
Reuser, A.J.J.7
-
8
-
-
77957239453
-
Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients
-
10.1016/j.ymgme.2010.06.003
-
Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Bernstein DL, Bialer MG, Mehta L, Desnick RJ, Mol Gen Metab 2010 101 130 3 10.1016/j.ymgme.2010.06.003
-
(2010)
Mol Gen Metab
, vol.101
, pp. 130-133
-
-
Bernstein, D.L.1
Bialer, M.G.2
Mehta, L.3
Desnick, R.J.4
-
9
-
-
47049095911
-
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease
-
10.1212/01.wnl.0000313367.09469.13 18505979
-
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Laforêt P, Petiot P, Nicolino M, Orlikowski D, Caillaud C, Pellegrini N, Froissart R, Petitjean T, Maire I, Chabriat H, Hadrane L, Annane D, Eymard B, Neurology 2008 70 2063 6 10.1212/01.wnl.0000313367. 09469.13 18505979
-
(2008)
Neurology
, vol.70
, pp. 2063-2066
-
-
Laforêt, P.1
Petiot, P.2
Nicolino, M.3
Orlikowski, D.4
Caillaud, C.5
Pellegrini, N.6
Froissart, R.7
Petitjean, T.8
Maire, I.9
Chabriat, H.10
Hadrane, L.11
Annane, D.12
Eymard, B.13
-
10
-
-
79952202659
-
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease
-
10.1007/s00415-010-5618-0 20559845
-
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L, Desnuelle C, J Neurol 2010 257 1730 3 10.1007/s00415-010-5618-0 20559845
-
(2010)
J Neurol
, vol.257
, pp. 1730-1733
-
-
Sacconi, S.1
Bocquet, J.D.2
Chanalet, S.3
Tanant, V.4
Salviati, L.5
Desnuelle, C.6
-
11
-
-
0023123581
-
The pattern of involvement of adult-onset acid maltase deficiency at autopsy
-
DOI 10.1002/mus.880100311
-
The pattern of involvement of adult-onset acid maltase deficiency at autopsy. Van der Walt JD, Swash M, Leake J, Cox EL, Muscle Nerve 1987 10 272 81 10.1002/mus.880100311 2951596 (Pubitemid 17022187)
-
(1987)
Muscle and Nerve
, vol.10
, Issue.3
, pp. 272-281
-
-
Van Der Walt, J.D.1
Swash, M.2
Leake, J.3
Cox, E.L.4
-
12
-
-
84898937323
-
Dystrophinopathy diagnosis made easy: Skin biopsy, an emerging novel tool
-
in press
-
Dystrophinopathy diagnosis made easy: skin biopsy, an emerging novel tool. Chakrabarty B, Sharma MC, Gulati S, Kabra M, Pandey RM, Sarkar C, J Child Neurol 2013 in press
-
(2013)
J Child Neurol
-
-
Chakrabarty, B.1
Sharma, M.C.2
Gulati, S.3
Kabra, M.4
Pandey, R.M.5
Sarkar, C.6
-
13
-
-
67349194952
-
Diagnostic utility of skin biopsy in dystrophinopathies
-
10.1016/j.clineuro.2009.01.011 19251360
-
Diagnostic utility of skin biopsy in dystrophinopathies. Tanveer N, Sharma MC, Sarkar C, Gulati S, Kalra V, Singh S, Bhatia R, Clin Neurol Neurosurg 2009 111 496 502 10.1016/j.clineuro.2009.01.011 19251360
-
(2009)
Clin Neurol Neurosurg
, vol.111
, pp. 496-502
-
-
Tanveer, N.1
Sharma, M.C.2
Sarkar, C.3
Gulati, S.4
Kalra, V.5
Singh, S.6
Bhatia, R.7
-
14
-
-
79958733690
-
Small-fiber neuropathy in patients with ALS
-
10.1212/WNL.0b013e31821e553a 21646630
-
Small-fiber neuropathy in patients with ALS. Weis J, Katona I, Müller-Newen G, Sommer C, Necula G, Hendrich C, Ludolph AC, Sperfeld AD, Neurology 2011 76 2024 9 10.1212/WNL.0b013e31821e553a 21646630
-
(2011)
Neurology
, vol.76
, pp. 2024-2029
-
-
Weis, J.1
Katona, I.2
Müller-Newen, G.3
Sommer, C.4
Necula, G.5
Hendrich, C.6
Ludolph, A.C.7
Sperfeld, A.D.8
-
15
-
-
0024227110
-
Adult polyglucosan body myopathy with subclinical peripheral neuropathy: Case report and review of diseases associated with polyglucosan body accumulation
-
Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation. Weis J, Schröder JM, Clin Neuropathol 1988 7 271 9 2852083 (Pubitemid 19019176)
-
(1988)
Clinical Neuropathology
, vol.7
, Issue.6
, pp. 271-279
-
-
Weis, J.1
Schroder, J.M.2
-
16
-
-
72549095406
-
Regulation mechanisms and signalling pathways of autophagy
-
10.1146/annurev-genet-102808-114910 19653858
-
Regulation mechanisms and signalling pathways of autophagy. He C, Klionsky DJ, Annu Rev Genet 2009 43 67 93 10.1146/annurev-genet-102808-114910 19653858
-
(2009)
Annu Rev Genet
, vol.43
, pp. 67-93
-
-
He, C.1
Klionsky, D.J.2
-
17
-
-
84866082112
-
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)
-
10.1038/cdd.2012.52
-
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M, Cell Death Diff 2012 19 1698 708 10.1038/cdd.2012.52
-
(2012)
Cell Death Diff
, vol.19
, pp. 1698-1708
-
-
Nascimbeni, A.C.1
Fanin, M.2
Masiero, E.3
Angelini, C.4
Sandri, M.5
-
18
-
-
33645776188
-
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease
-
10.1002/ana.20807 16532490
-
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Fukuda T, Ewan L, Bauer M, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N, Ann Neurol 2006 59 700 8 10.1002/ana.20807 16532490
-
(2006)
Ann Neurol
, vol.59
, pp. 700-708
-
-
Fukuda, T.1
Ewan, L.2
Bauer, M.3
Mattaliano, R.J.4
Zaal, K.5
Ralston, E.6
Plotz, P.H.7
Raben, N.8
-
19
-
-
46449126749
-
Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle
-
10.1016/j.nmd.2008.04.010
-
Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. Malicdan MC, Noguchi S, Nonaka I, Saftig P, Nishino I, Neuromuscul Dis 2008 18 521 9 10.1016/j.nmd.2008.04.010
-
(2008)
Neuromuscul Dis
, vol.18
, pp. 521-529
-
-
Malicdan, M.C.1
Noguchi, S.2
Nonaka, I.3
Saftig, P.4
Nishino, I.5
-
20
-
-
78649288882
-
Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompe disease
-
10.4161/auto.6.8.13378 20861693
-
Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompe disease. Raben N, Schreiner C, Baum R, Takikita S, Xu S, Xie T, Myerowitz R, Komatsu M, Van der Meulen JH, Nagaraju K, Ralston E, Plotz PH, Autophagy 2010 6 1078 89 10.4161/auto.6.8.13378 20861693
-
(2010)
Autophagy
, vol.6
, pp. 1078-1089
-
-
Raben, N.1
Schreiner, C.2
Baum, R.3
Takikita, S.4
Xu, S.5
Xie, T.6
Myerowitz, R.7
Komatsu, M.8
Van Der Meulen, J.H.9
Nagaraju, K.10
Ralston, E.11
Plotz, P.H.12
|