-
1
-
-
0345306346
-
Prevalence and progression of mitochondrial diseases: A study of 50 patients
-
Arpa J, Cruz-Martinez A, Campos Y, Gutierrez-Molina M, Garcia-Rio F, Perez-Conde C, Martin MA, Rubio JC, Del Hoyo P, Arpa-Fernandez A, Arenas J (2003) Prevalence and progression of mitochondrial diseases: a study of 50 patients. Muscle Nerve 28:690-695
-
(2003)
Muscle Nerve
, vol.28
, pp. 690-695
-
-
Arpa, J.1
Cruz-Martinez, A.2
Campos, Y.3
Gutierrez-Molina, M.4
Garcia-Rio, F.5
Perez-Conde, C.6
Martin, M.A.7
Rubio, J.C.8
Del Hoyo, P.9
Arpa-Fernandez, A.10
Arenas, J.11
-
2
-
-
34250813636
-
Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: Can we predict progression?
-
Aure K, de Ogier BH, Laforet P, Jardel C, Eymard B, Lombes A (2007) Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? Brain 130:1516-1524
-
(2007)
Brain
, vol.130
, pp. 1516-1524
-
-
Aure, K.1
De Ogier, B.H.2
Laforet, P.3
Jardel, C.4
Eymard, B.5
Lombes, A.6
-
3
-
-
0025177328
-
Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies
-
Barohn RJ, Clanton T, Sahenk Z, Mendell JR (1990) Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies. Neurology 40:103-106
-
(1990)
Neurology
, vol.40
, pp. 103-106
-
-
Barohn, R.J.1
Clanton, T.2
Sahenk, Z.3
Mendell, J.R.4
-
4
-
-
77949685737
-
Chronic progressive external ophthalmoplegia - Symptom or syndrome?
-
Baul V, Deschauer M, Zierz S (2009) Chronic progressive external ophthalmoplegia - symptom or syndrome? Klin Monb Augenheilkd 226:822-828
-
(2009)
Klin Monb Augenheilkd
, vol.226
, pp. 822-828
-
-
Baul, V.1
Deschauer, M.2
Zierz, S.3
-
5
-
-
0002868820
-
-
2nd edn. Royal Society of Medicine Press Limited, London
-
Bindoff L, Brown G, Poulton J (1997) Mitochondrial myopathies. Diagnostic criteria for neuromuscular disorders, 2nd edn. Royal Society of Medicine Press Limited, London, pp 85-90
-
(1997)
Mitochondrial Myopathies. Diagnostic Criteria for Neuromuscular Disorders
, pp. 85-90
-
-
Bindoff, L.1
Brown, G.2
Poulton, J.3
-
6
-
-
0020606691
-
Respiratory muscle and pulmonary function in polymyositis and other proximal myopathies
-
Braun NMT, Arora NS, Rochester DF (1983) Respiratory muscle and pulmonary function in polymyositis and other proximal myopathies. Thorax 38:616-623
-
(1983)
Thorax
, vol.38
, pp. 616-623
-
-
Braun, N.M.T.1
Arora, N.S.2
Rochester, D.F.3
-
7
-
-
0017237183
-
Depressed ventilatory response in oculocraniosomatic neuromuscular disease
-
Carroll JE, Zwillich C, Weil JV, Brooke MH (1976) Depressed ventilatory response in oculocraniosomatic neuromuscular disease. Neurology 26:140-146
-
(1976)
Neurology
, vol.26
, pp. 140-146
-
-
Carroll, J.E.1
Zwillich, C.2
Weil, J.V.3
Brooke, M.H.4
-
8
-
-
0000742911
-
Chronic progressive external ophthalmoplegia (CPEO) associated with diaphragm paralysis: Succesful treatment with Coenzyme Q (CoQ)
-
Desnuelle C, Pellissier J-C, Serratrice G, Pouget J (1988) Chronic progressive external ophthalmoplegia (CPEO) associated with diaphragm paralysis: succesful treatment with Coenzyme Q (CoQ). Neurology 38:102-103
-
(1988)
Neurology
, vol.38
, pp. 102-103
-
-
Desnuelle, C.1
Pellissier, J.-C.2
Serratrice, G.3
Pouget, J.4
-
9
-
-
0030753958
-
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease
-
Fadic R, Russell JA, Vedanarayanan VV, Lehar M, Kuncl RW, Johns DR (1997) Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. Neurology 49:239-245
-
(1997)
Neurology
, vol.49
, pp. 239-245
-
-
Fadic, R.1
Russell, J.A.2
Vedanarayanan, V.V.3
Lehar, M.4
Kuncl, R.W.5
Johns, D.R.6
-
11
-
-
0026176529
-
Two cases of mitochondrial myopathy with predominant respiratory dysfunction
-
Kim GW, Kim SM, Sunwoo IN, Chi JG (1991) Two cases of mitochondrial myopathy with predominant respiratory dysfunction. Yonsei Med J 32:184-189
-
(1991)
Yonsei Med J
, vol.32
, pp. 184-189
-
-
Kim, G.W.1
Kim, S.M.2
Sunwoo, I.N.3
Chi, J.G.4
-
12
-
-
0033546906
-
Age and cause of death in mitochondrial diseases
-
Klopstock TM, Jaksch MM, Gasser TM (1999) Age and cause of death in mitochondrial diseases. Neurology 53:855-857
-
(1999)
Neurology
, vol.53
, pp. 855-857
-
-
Klopstock, T.M.1
Jaksch, M.M.2
Gasser, T.M.3
-
13
-
-
0035933145
-
Cricopharyngeal Achalasia is a common cause of dysphagia in patients with mtDNA deletions
-
Kornblum CM, Broicher RM, Walther EM, Seibel PP, Reichmann HM, Klockgether TM, Herberhold CM, Schroder RM (2001) Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions. Neurology 56:1409-1412
-
(2001)
Neurology
, vol.56
, pp. 1409-1412
-
-
Kornblum, C.M.1
Broicher, R.M.2
Walther, E.M.3
Seibel, P.P.4
Reichmann, H.M.5
Klockgether, T.M.6
Herberhold, C.M.7
Schroder, R.M.8
-
14
-
-
0023877476
-
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
-
Lestienne P, Ponsot G (1988) Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet 1:885
-
(1988)
Lancet
, vol.1
, pp. 885
-
-
Lestienne, P.1
Ponsot, G.2
-
15
-
-
0025963242
-
Respiratory patterns during sleep in mitochondrial myopathies with ophthalmoplegia
-
Manni R, Piccolo G, Banfi P, Cerveri I, Bruschi C, Zoia C, Tartara A (1991) Respiratory patterns during sleep in mitochondrial myopathies with ophthalmoplegia. Eur Neurol 31:12-17
-
(1991)
Eur Neurol
, vol.31
, pp. 12-17
-
-
Manni, R.1
Piccolo, G.2
Banfi, P.3
Cerveri, I.4
Bruschi, C.5
Zoia, C.6
Tartara, A.7
-
16
-
-
33845319209
-
Neuromuscular disease causing acute respiratory failure
-
Mehta S (2006) Neuromuscular disease causing acute respiratory failure. Respir Care 51:1016-1021
-
(2006)
Respir Care
, vol.51
, pp. 1016-1021
-
-
Mehta, S.1
-
17
-
-
21744460289
-
Standardisation of spirometry
-
Miller MR, Hankinson J, Brusasco V, Burgos F, Casaburi R, Coates A, Crapo R, Enright P, van der Grinten CPM, Gustafsson P, Jensen R, Johnson DC, MacIntyre N, Mckay R, Navajas D, Pedersen OF, Pellegrino R, Viegi G, Wanger J (2005) Standardisation of spirometry. Eur Respir J 26:319-338
-
(2005)
Eur Respir J
, vol.26
, pp. 319-338
-
-
Miller, M.R.1
Hankinson, J.2
Brusasco, V.3
Burgos, F.4
Casaburi, R.5
Coates, A.6
Crapo, R.7
Enright, P.8
Van Der Grinten, C.P.M.9
Gustafsson, P.10
Jensen, R.11
Johnson, D.C.12
MacIntyre, N.13
Mckay, R.14
Navajas, D.15
Pedersen, O.F.16
Pellegrino, R.17
Viegi, G.18
Wanger, J.19
-
18
-
-
0347991960
-
Pulmonary complications of chronic neuromuscular diseases and their management
-
Perrin C, Unterborn JN, D'Ambrosio C, Hill NS (2004) Pulmonary complications of chronic neuromuscular diseases and their management. Muscle Nerve 29:5-27
-
(2004)
Muscle Nerve
, vol.29
, pp. 5-27
-
-
Perrin, C.1
Unterborn, J.N.2
D'Ambrosio, C.3
Hill, N.S.4
-
19
-
-
34047219863
-
Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure
-
Sanaker PS, Husebye ES, Fondenes O, Bindoff LA (2007) Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. Acta Neurol Scand 115:64-67
-
(2007)
Acta Neurol Scand
, vol.115
, pp. 64-67
-
-
Sanaker, P.S.1
Husebye, E.S.2
Fondenes, O.3
Bindoff, L.A.4
-
20
-
-
0023176137
-
Practical problems in the respiratory care of patients with muscular dystrophy
-
Smith PEM, Calverley PMA, Edwards RHT, Evans GA, Campbell EJM (1987) Practical problems in the respiratory care of patients with muscular dystrophy. N Engl J Med 316: 1197-1205
-
(1987)
N Engl J Med
, vol.316
, pp. 1197-1205
-
-
Smith, P.E.M.1
Calverley, P.M.A.2
Edwards, R.H.T.3
Evans, G.A.4
Campbell, E.J.M.5
-
21
-
-
0028350732
-
Lung and respiratory muscle function in limb-girdle muscular dystrophy
-
Stubgen JP, Ras GJ, Schultz CM, Crowther G (1994) Lung and respiratory muscle function in limb-girdle muscular dystrophy. Thorax 49:61-65
-
(1994)
Thorax
, vol.49
, pp. 61-65
-
-
Stubgen, J.P.1
Ras, G.J.2
Schultz, C.M.3
Crowther, G.4
-
22
-
-
67049097536
-
Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy
-
Stubgen JP, Schultz C (2009) Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy. Muscle Nerve 39:729-734
-
(2009)
Muscle Nerve
, vol.39
, pp. 729-734
-
-
Stubgen, J.P.1
Schultz, C.2
-
23
-
-
0023889706
-
Interobserver agreement for the assessment of handicap in stroke patients
-
van Swieten JC, Koudstaal PJ, Visser MC, Schouten HJA, van Gijn J (1988) Interobserver agreement for the assessment of handicap in stroke patients. Stroke 19:604-607
-
(1988)
Stroke
, vol.19
, pp. 604-607
-
-
Van Swieten, J.C.1
Koudstaal, P.J.2
Visser, M.C.3
Schouten, H.J.A.4
Van Gijn, J.5
-
24
-
-
45849095230
-
Measuring inspiratory muscle strength in neuromuscular disease: One test or two?
-
Terzi N, Orlikowski D, Fermanian C, Lejaille M, Falaize L, Louis A, Raphael JC, Fauroux B, Lofaso F (2008) Measuring inspiratory muscle strength in neuromuscular disease: one test or two? Eur Respir J 1:93-98
-
(2008)
Eur Respir J
, vol.1
, pp. 93-98
-
-
Terzi, N.1
Orlikowski, D.2
Fermanian, C.3
Lejaille, M.4
Falaize, L.5
Louis, A.6
Raphael, J.C.7
Fauroux, B.8
Lofaso, F.9
|