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Lamminen, A.E.1
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Magnetic resonance imaging of skeletal muscle in patients with Duchenne muscular dystrophy: Serial axial and sagittal section studies
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Nagao H, Morimoto T, Sano N, et al. Magnetic resonance imaging of skeletal muscle in patients with Duchenne muscular dystrophy: serial axial and sagittal section studies. No To Hattatsu 1991; 23:39-43.
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Nagao, H.1
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3
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Proton spin-lattice relaxation time of Duchenne dystrophy skeletal muscle by magnetic resonance imaging
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Matsumura K, Nakano I, Fukuda N, et al. Proton spin-lattice relaxation time of Duchenne dystrophy skeletal muscle by magnetic resonance imaging. Muscle Nerve 1988; 11:97-102.
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Matsumura, K.1
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Magnetic resonance imaging and spectroscopy of muscle: Muscular dystrophies
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Karpati G, Hilton-Jones D, Griggs RC, editors. Cambridge, UK: Cambridge University Press
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Taylor DJ, Fleckenstein JL, Lodi R. Magnetic resonance imaging and spectroscopy of muscle: muscular dystrophies. In: Karpati G, Hilton-Jones D, Griggs RC, editors. Disorders of voluntary muscles, 7th ed. Cambridge, UK: Cambridge University Press; 2001. pp. 333-335.
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Disorders of Voluntary Muscles, 7th Ed.
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Taylor, D.J.1
Fleckenstein, J.L.2
Lodi, R.3
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5
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0027176902
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Muscle damage progression in Duchenne muscular dystrophy evaluated by a new quantitative computed tomographic method
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Liu, M.1
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Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
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Mercuri E, Bushby K, Ricci E, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromusc Disord 2005; 15:164-171. This report describes the value of muscle MRI in identifying patients with LGMD2A who have an overlapping clinical phenotype with EDMD.
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Neuromusc Disord
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Mercuri, E.1
Bushby, K.2
Ricci, E.3
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Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
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Fischer D, Walter MC, Kesper K, et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005; 252:538-247. The authors describe similarities and differences between genetically different forms of LGMD.
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J Neurol
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Fischer, D.1
Walter, M.C.2
Kesper, K.3
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Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy
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Lodi R, Muntoni F, Taylor J, et al. Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy. Neuromusc Disord 1997; 7:505-511.
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Neuromusc Disord
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Lodi, R.1
Muntoni, F.2
Taylor, J.3
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9
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Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy
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Sewry CA, Taylor J, Anderson LV, et al. Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy. Neuromusc Disord 1996; 6:467-474.
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Neuromusc Disord
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Sewry, C.A.1
Taylor, J.2
Anderson, L.V.3
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10
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0029819061
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Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy
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Meola G, Sansone V, Rotondo G, Jabbour A. Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy. Muscle Nerve 1996; 19:1476-1480.
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Muscle Nerve
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Meola, G.1
Sansone, V.2
Rotondo, G.3
Jabbour, A.4
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11
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0029845713
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Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
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Weiler T, Greenberg CR, Nylen E, et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 1996; 59:872-878.
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Weiler, T.1
Greenberg, C.R.2
Nylen, E.3
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12
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0035836751
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Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene
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Haravuori H, Vihola A, Straub V, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 2001; 56:869-877.
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Neurology
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Haravuori, H.1
Vihola, A.2
Straub, V.3
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13
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0031878796
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Genetic heterogeneity in Miyoshi-type distal muscular dystrophy
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Linssen WH, de Visser M, Notermans NC, et al. Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. Neuromusc Disord 1998; 8:317-320.
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Neuromusc Disord
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Linssen, W.H.1
De Visser, M.2
Notermans, N.C.3
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14
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0031878338
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Miyoshi myopathy in Saudi Arabia: Clinical, electrophysiological, histopathological and radiological features
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Cupler EJ, Bohlega S, Hessler R, et al. Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. Neuromusc Disord 1998; 8:321-326.
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Neuromusc Disord
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Cupler, E.J.1
Bohlega, S.2
Hessler, R.3
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15
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Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients
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Linssen WH, Notermans NC, Van der Graaf Y, et al. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain 1997; 120:1989-1996.
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Linssen, W.H.1
Notermans, N.C.2
Van Der Graaf, Y.3
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16
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Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy
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Suzuki N, Aoki M, Takahashi T, et al. Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy. Muscle Nerve 2004; 29:721-723.
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Muscle Nerve
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Suzuki, N.1
Aoki, M.2
Takahashi, T.3
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17
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0033971244
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Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study
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Flanigan KM, Kerr L, Bromberg MB, et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Ann Neurol 2000; 47:152-161.
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Ann Neurol
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Flanigan, K.M.1
Kerr, L.2
Bromberg, M.B.3
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18
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0036787899
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Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
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Mercuri E, Talim B, Moghdaszadeh B, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromusc Disord 2002; 12:631-638.
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Neuromusc Disord
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Mercuri, E.1
Talim, B.2
Moghdaszadeh, B.3
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19
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0042071483
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Muscle magnetic resonance imaging in patients with Ullrich congenital muscular dystrophy
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Mercuri E, Cini C, Pichiecchio A, et al. Muscle magnetic resonance imaging in patients with Ullrich congenital muscular dystrophy. Neuromusc Disord 2003; 13:554-557.
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(2003)
Neuromusc Disord
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Mercuri, E.1
Cini, C.2
Pichiecchio, A.3
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20
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Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy
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Mercuri E, Lampe A, Allsopp J, et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromusc Disord 2005; 15:303-310. This paper provides an interesting description of the patterns observed in the Ullrich CMD and Bethlem myopathy but also of the overlap between the two forms.
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Neuromusc Disord
, vol.15
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Mercuri, E.1
Lampe, A.2
Allsopp, J.3
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21
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Selective muscle involvement on magnetic resonance imaging in autosomal-dominant Emery-Dreifuss muscular dystrophy
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Mercuri E, Counsell S, Allsop J, et al. Selective muscle involvement on magnetic resonance imaging in autosomal-dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 2002; 33:10-14. This paper describes how muscle MRI can identify patients with dominant and X-linked forms of EDMD, in whom there is significant clinical overlap.
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(2002)
Neuropediatrics
, vol.33
, pp. 10-14
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Mercuri, E.1
Counsell, S.2
Allsop, J.3
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22
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Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities
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Vantyghem MC, Pigny P, Maurage CA, et al. Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. J Clin Endocrinol Metab 2004; 89:5337-5346.
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J Clin Endocrinol Metab
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Vantyghem, M.C.1
Pigny, P.2
Maurage, C.A.3
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Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
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van der Kooi AJ, Bonne G, Eymard B, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002; 27:620-623.
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Neurology
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Van Der Kooi, A.J.1
Bonne, G.2
Eymard, B.3
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24
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Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
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Jungbluth H, Davis MR, Muller C, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromusc Disord 2004; 14:785-790. This report paper describes muscle MRI findings in different subgroups of congenital myopathies subdivided according to the most recent genetic classification.
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(2004)
Neuromusc Disord
, vol.14
, pp. 785-790
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Jungbluth, H.1
Davis, M.R.2
Muller, C.3
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25
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9644288164
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Magnetic resonance imaging of muscle in nemaline myopathy
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Jungbluth H, Sewry CA, Counsell S, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromusc Disord 2004; 14:779-784. This report describes muscle MRI findings in different subgroups of congenital myopathies subdivided according to the most recent genetic classification.
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(2004)
Neuromusc Disord
, vol.14
, pp. 779-784
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Jungbluth, H.1
Sewry, C.A.2
Counsell, S.3
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26
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Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene
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Jungbluth H, Sewry CA, Brown SC, et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromusc Disord 2001; 11:35-41.
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(2001)
Neuromusc Disord
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, pp. 35-41
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Jungbluth, H.1
Sewry, C.A.2
Brown, S.C.3
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27
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Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases
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Ferreiro A, Estournet B, Chateau D, et al. Multi-minicore disease - searching for boundaries: phenotype analysis of 38 cases. Ann Neurol 2000; 48:745-757.
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Ferreiro, A.1
Estournet, B.2
Chateau, D.3
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28
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Minicore myopathy in children: A clinical and histopathological study of 19 cases
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Jungbluth H, Sewry C, Brown SC, et al. Minicore myopathy in children: a clinical and histopathological study of 19 cases. Neuromusc Disord 2000; 10:264-273.
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Neuromusc Disord
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Jungbluth, H.1
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Brown, S.C.3
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29
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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
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Jungbluth H, Müller CR, Halliger-Keller B, et al. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 2002; 59:284-287.
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Jungbluth, H.1
Müller, C.R.2
Halliger-Keller, B.3
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30
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Jungbluth H, Beggs A, Bonnemann C, et al. 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop; 9-11 November 2002; Naarden, The Netherlands. Neuromusc Disord 2004; 14:754-766.
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Neuromusc Disord
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Jungbluth, H.1
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Bonnemann, C.3
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31
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Muscle MRI findings in a three-generation family affected by Bethlem myopathy
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Mercuri E, Cini C, Counsell S, et al. Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol 2002; 6:309-314.
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Eur J Paediatr Neurol
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Mercuri, E.1
Cini, C.2
Counsell, S.3
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