-
1
-
-
0346502172
-
Spinal muscular atrophy: Molecular genetics and diagnostics
-
DOI 10.1586/14737159.4.1.15
-
Ogino S, Wilson RB. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn. 2004;4(1):15-29 (Pubitemid 38089639)
-
(2004)
Expert Review of Molecular Diagnostics
, vol.4
, Issue.1
, pp. 15-29
-
-
Ogino, S.1
Wilson, R.B.2
-
2
-
-
18244407748
-
Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function
-
DOI 10.1002/ana.20473
-
Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005;57(5):704-712 (Pubitemid 40628859)
-
(2005)
Annals of Neurology
, vol.57
, Issue.5
, pp. 704-712
-
-
Swoboda, K.J.1
Prior, T.W.2
Scott, C.B.3
McNaught, T.P.4
Wride, M.C.5
Reyna, S.P.6
Bromberg, M.B.7
-
3
-
-
77949389610
-
Diseases of the motor unit
-
Menkes JH, Hafrvey B, Sarnat HB, Bernard L, eds. 7th ed. Philadelphia, PA: Lippincott Williams & Wilkins
-
Menkes JH, Harvey B, Sarnat HB, Bernard L. Diseases of the motor unit. In: Menkes JH, Hafrvey B, Sarnat HB, Bernard L, eds. Child Neurology. 7th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006:972-978
-
(2006)
Child Neurology
, pp. 972-978
-
-
Menkes, J.H.1
Harvey, B.2
Sarnat, H.B.3
Bernard, L.4
-
4
-
-
77949357914
-
Spinal muscular atrophy
-
Schwartz MW, ed. 5th ed. Philadelphia, PA: Walters Kluwer, Lippincott Williams & Wilkens
-
Kang PB. Spinal muscular atrophy. In: Schwartz MW, ed. The 5-Minute Pediatric Consult. 5th ed. Philadelphia, PA: Walters Kluwer, Lippincott Williams & Wilkens; 2008:796-797
-
(2008)
The 5-Minute Pediatric Consult
, pp. 796-797
-
-
Kang, P.B.1
-
5
-
-
77949358947
-
Disorders of Neuromuscular Transmission and of Motor Neurons
-
18th ed. Philadelphia, PA: Saunders
-
Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Disorders of Neuromuscular Transmission and of Motor Neurons. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders; 2007:2557-2559
-
(2007)
Nelson Textbook of Pediatrics
, pp. 2557-2559
-
-
Kliegman, R.M.1
Behrman, R.E.2
Jenson, H.B.3
Stanton, B.F.4
-
6
-
-
77949375907
-
Disorders of the anterior horn cell
-
McMillan JA, Feigin RD, De Angelis CD, Jones MD Jr, eds. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkens
-
Parke JT. Disorders of the anterior horn cell. In: McMillan JA, Feigin RD, De Angelis CD, Jones MD Jr, eds. Oski's Pediatrics Principles & Practice. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkens; 2006:2307-2309
-
(2006)
Oski's Pediatrics Principles & Practice
, pp. 2307-2309
-
-
Parke, J.T.1
-
7
-
-
77949388496
-
Neuromuscular disease
-
McIntosh N, Helms P, Smyth R, Logan S, eds. 7th ed. Philadelphia, PA: Elsevier
-
Hughes MI. Neuromuscular disease. In: McIntosh N, Helms P, Smyth R, Logan S, eds. Forfar et Arneil's Textbook of Pediatrics. 7th ed. Philadelphia, PA: Elsevier; 2008:916-917
-
(2008)
Forfar et Arneil's Textbook of Pediatrics
, pp. 916-917
-
-
Hughes, M.I.1
-
8
-
-
4544350134
-
Respiratory capacity course in patients with infantile spinal muscular atrophy
-
DOI 10.1378/chest.126.3.831
-
Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest. 2004;126(3):831-837 (Pubitemid 39258038)
-
(2004)
Chest
, vol.126
, Issue.3
, pp. 831-837
-
-
Ioos, C.1
Leclair-Richard, D.2
Mrad, S.3
Barois, A.4
Estournet-Mathiaud, B.5
-
9
-
-
0034007507
-
Spinal muscular atrophy type 1: A noninvasive respiratory management approach
-
Bach JR, Niranjan V, Weaver B. Spinal muscular atrophy type 1: a noninvasive respiratory management approach. Chest. 2000;117(4):1100-1105 (Pubitemid 30228371)
-
(2000)
Chest
, vol.117
, Issue.4
, pp. 1100-1105
-
-
Bach, J.R.1
Niranjan, V.2
Weaver, B.3
-
10
-
-
34247522015
-
Medical considerations of long-term survival of Werdnig-Hoffmann disease
-
DOI 10.1097/PHM.0b013e31804b1d66, PII 0000206020070500000004
-
Bach JR. Medical considerations of longterm survival of Werdnig-Hoffmann disease. Am J Phys Med Rehabil. 2007;86(5):349-355 (Pubitemid 46652191)
-
(2007)
American Journal of Physical Medicine and Rehabilitation
, vol.86
, Issue.5
, pp. 349-355
-
-
Bach, J.R.1
-
11
-
-
77949367872
-
Spinal muscular atrophy type 1: Prolongation of survival by noninvasive respiratory aid
-
Bach JR, Gupta K, Reyna M, Hon A. Spinal muscular atrophy type 1: prolongation of survival by noninvasive respiratory aid. Pediatr Asthma Allergy Immunol. 2009;22(4):151-161
-
(2009)
Pediatr Asthma Allergy Immunol
, vol.22
, Issue.4
, pp. 151-161
-
-
Bach, J.R.1
Gupta, K.2
Reyna, M.3
Hon, A.4
-
12
-
-
85027921263
-
Spinal muscular atrophy type 1: Avoidance of hospitalization by respiratory muscle support
-
published online ahead of print 2011
-
Ottonello G, Mastella C, Franceschi A, et al. Spinal muscular atrophy type 1: avoidance of hospitalization by respiratory muscle support [published online ahead of print 2011]. Am J Phys Med Rehabil
-
Am J Phys Med Rehabil
-
-
Ottonello, G.1
Mastella, C.2
Franceschi, A.3
-
13
-
-
79954479111
-
Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I
-
Chatwin M, Bush A, Simonds AK. Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I. Arch Dis Child. 2011;96(5):426-432
-
(2011)
Arch Dis Child
, vol.96
, Issue.5
, pp. 426-432
-
-
Chatwin, M.1
Bush, A.2
Simonds, A.K.3
-
14
-
-
0141457951
-
Prevention of pectus excavatum for children with spinal muscular atrophy type 1
-
Bach JR, Bianchi C. Prevention of pectus excavatum for children with spinal muscular atrophy type 1. Am J Phys Med Rehabil. 2003;82:815-9.9
-
(2003)
Am J Phys Med Rehabil
, vol.82
-
-
Bach, J.R.1
Bianchi, C.2
-
15
-
-
0036288145
-
Spinal muscular atrophy type 1: Management and outcomes
-
DOI 10.1002/ppul.10110
-
Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes. Pediatr Pulmonol. 2002;34(1):16-22 (Pubitemid 34686706)
-
(2002)
Pediatric Pulmonology
, vol.34
, Issue.1
, pp. 16-22
-
-
Bach, J.R.1
Baird, J.S.2
Plosky, D.3
Navado, J.4
Weaver, B.5
-
16
-
-
19044391862
-
There are other ways to manage spinal muscular atrophy type 1
-
author reply 1463-1464
-
Bach JR. There are other ways to manage spinal muscular atrophy type 1. Chest. 2005;127(4):1463-1464; author reply 1463-1464
-
(2005)
Chest
, vol.127
, Issue.4
, pp. 1463-1464
-
-
Bach, J.R.1
-
17
-
-
0032077081
-
Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding
-
DOI 10.1016/S0887-8994(97)00227-0, PII S0887899497002270
-
Birnkrant DJ, Pope JF, Martin JE, Repucci AH, Eiben RM. Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding. Pediatr Neurol. 1998;18(5):407-410 (Pubitemid 28308707)
-
(1998)
Pediatric Neurology
, vol.18
, Issue.5
, pp. 407-410
-
-
Birnkrant, D.J.1
Pope, J.F.2
Martin, J.E.3
Repucci, A.H.4
Eiben, R.M.5
-
18
-
-
4544261945
-
Use of the mechanical in-exsufflator in pediatric patients with neuromuscular disease and impaired cough
-
DOI 10.1378/chest.125.4.1406
-
Miske LJ, Hickey EM, Kolb SM, Weiner DJ, Panitch HB. Use of mechanical in exsufflator in pediatric patients with neuromuscular disease and impaired cough. Chest. 2004;4:1406-1412 (Pubitemid 38501357)
-
(2004)
Chest
, vol.125
, Issue.4
, pp. 1406-1412
-
-
Miske, L.J.1
Hickey, E.M.2
Kolb, S.M.3
Weiner, D.J.4
Panitch, H.B.5
-
19
-
-
38349059866
-
Physiologic benefits of mechanical insufflation-exsufflation in children with neuromuscular diseases
-
Fauroux B, Guillemot N, Aubertin G, et al. Physiologic benefits of mechanical insufflation-exsufflation in children with neuromuscular diseases. Chest. 2008;133(1):161-168
-
(2008)
Chest
, vol.133
, Issue.1
, pp. 161-168
-
-
Fauroux, B.1
Guillemot, N.2
Aubertin, G.3
-
20
-
-
0036259705
-
Duchenne muscular dystrophy: Prolongation of life by noninvasive ventilation and mechanically assisted coughing
-
DOI 10.1097/00002060-200206000-00003
-
Gomez-Merino E, Bach JR. Duchenne muscular dystrophy: prolongation of life by noninvasive ventilation and mechanically assisted coughing. Am J Phys Med Rehabil. 2002;81(6):411-415 (Pubitemid 34564110)
-
(2002)
American Journal of Physical Medicine and Rehabilitation
, vol.81
, Issue.6
, pp. 411-415
-
-
Gomez-Merino, E.1
Bach, J.R.2
-
21
-
-
80052443981
-
Invasive and non-invasive long-term mechanical ventilation in Italian children
-
Racca F, Bonati M, Del Sorbo L, et al. Invasive and non-invasive long-term mechanical ventilation in Italian children. Minerva Anestesiol. 2011;77(9):892-901
-
(2011)
Minerva Anestesiol
, vol.77
, Issue.9
, pp. 892-901
-
-
Racca, F.1
Bonati, M.2
Del Sorbo, L.3
-
22
-
-
77957376761
-
Implementation of " the consensus statement for the standard of care in spinal muscular atrophy " when applied to infants with severe type 1 SMA in the UK
-
Workshop Participants
-
Roper H, Quinlivan R; Workshop Participants. Implementation of " the consensus statement for the standard of care in spinal muscular atrophy " when applied to infants with severe type 1 SMA in the UK. Arch Dis Child. 2010;95(10):845-849
-
(2010)
Arch Dis Child
, vol.95
, Issue.10
, pp. 845-849
-
-
Roper, H.1
Quinlivan, R.2
-
23
-
-
78049415055
-
Pediatric basic life support: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care
-
American Heart Association. Available at
-
Berg MD, Schexnayder SM, Chameides L, et al American Heart Association. Pediatric basic life support: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care. Pediatrics. 2010;126(5):e1345-e1360. Available at: www.pediatrics.org/cgi/content/full/126/ 5/e1345
-
(2010)
Pediatrics
, vol.126
, Issue.5
-
-
Berg, M.D.1
Schexnayder, S.M.2
Chameides, L.3
-
24
-
-
34247514920
-
Long-term survival in Werdnig-Hoffmann disease
-
quiz 346-348, 379
-
Bach JR, Saltstein K, Sinquée D, Weaver B, Komaroff E. Long-term survival in Werdnig-Hoffmann disease. Am J Phys Med Rehabil. 2007;86(5):339-345; quiz 346-348, 379
-
(2007)
Am J Phys Med Rehabil
, vol.86
, Issue.5
, pp. 339-345
-
-
Bach, J.R.1
Saltstein, K.2
Sinquée, D.3
Weaver, B.4
Komaroff, E.5
-
25
-
-
36348954970
-
Physician attitudes towards ventilatory support for spinal muscular atrophy type 1 in Australasia
-
DOI 10.1111/j.1440-1754.2007.01197.x
-
Geevasinga N, Ryan MM. Physician attitudes towards ventilatory support for spinal muscular atrophy type 1 in Australasia. J Paediatr Child Health. 2007;43(12):790-794 (Pubitemid 350150840)
-
(2007)
Journal of Paediatrics and Child Health
, vol.43
, Issue.12
, pp. 790-794
-
-
Geevasinga, N.1
Ryan, M.M.2
-
26
-
-
79954479111
-
Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I
-
Chatwin M, Bush A, Simonds AK. Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I. Arch Dis Child. 2011;96(5):426-432
-
(2011)
Arch Dis Child
, vol.96
, Issue.5
, pp. 426-432
-
-
Chatwin, M.1
Bush, A.2
Simonds, A.K.3
-
27
-
-
65549106106
-
Survival probabilities of patients with childhood spinal muscle atrophy
-
Mannaa MM, Kalra M, Wong B, Cohen AP, Amin RS. Survival probabilities of patients with childhood spinal muscle atrophy. J Clin Neuromuscul Dis. 2009;10(3):85-89
-
(2009)
J Clin Neuromuscul Dis
, vol.10
, Issue.3
, pp. 85-89
-
-
Mannaa, M.M.1
Kalra, M.2
Wong, B.3
Cohen, A.P.4
Amin, R.S.5
-
28
-
-
34548167361
-
Consensus statement for standard of care in spinal muscular atrophy
-
DOI 10.1177/0883073807305788
-
Wang CH, Finkel RS, Bertini ES, et al Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049 (Pubitemid 47308318)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 1027-1049
-
-
Wang, C.H.1
Finkel, R.S.2
Bertini, E.S.3
Schroth, M.4
Simonds, A.5
Wong, B.6
Aloysius, A.7
Morrison, L.8
Main, M.9
Crawford, T.O.10
Trela, A.11
-
29
-
-
49649106991
-
Performance of ventilators for noninvasive positive-pressure ventilation in children
-
Fauroux B, Leroux K, Desmarais G, et al. Performance of ventilators for noninvasive positive-pressure ventilation in children. Eur Respir J. 2008;31(6):1300-1307
-
(2008)
Eur Respir J
, vol.31
, Issue.6
, pp. 1300-1307
-
-
Fauroux, B.1
Leroux, K.2
Desmarais, G.3
|