-
1
-
-
0015991082
-
Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease
-
Mellins RB, Hays AP, Gold AP, Berdon WE, Bowdler JD Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics. 1974 ; 53 (1). 33-40.
-
(1974)
Pediatrics
, vol.53
, Issue.1
, pp. 33-40
-
-
Mellins, R.B.1
Hays, A.P.2
Gold, A.P.3
Berdon, W.E.4
Bowdler, J.D.5
-
2
-
-
0033358195
-
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21
-
Grohmann K., Wienker TF, Saar K., et al. Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21. Am J Hum Genet. 1999 ; 65 (5). 1459-1462.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.5
, pp. 1459-1462
-
-
Grohmann, K.1
Wienker, T.F.2
Saar, K.3
-
3
-
-
17944374029
-
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
-
Grohmann K., Schuelke M., Diers A., et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet. 2001 ; 29 (1). 75-77.
-
(2001)
Nat Genet
, vol.29
, Issue.1
, pp. 75-77
-
-
Grohmann, K.1
Schuelke, M.2
Diers, A.3
-
4
-
-
38349110564
-
Spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Kaindl AM, Guenther UP, Rudnik-Schöneborn S., et al. Spinal muscular atrophy with respiratory distress type 1 (SMARD1). J Child Neurol. 2008 ; 23 (2). 199-204.
-
(2008)
J Child Neurol
, vol.23
, Issue.2
, pp. 199-204
-
-
Kaindl, A.M.1
Guenther, U.P.2
Rudnik-Schöneborn, S.3
-
5
-
-
0030860931
-
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
-
Molnar GM, Crozat A., Kraeft SK, Dou QP, Chen LB, Pardee AB Association of the mammalian helicase MAH with the pre-mRNA splicing complex. Proc Natl Acad Sci U S A. 1997 ; 94 (15). 7831-7836.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, Issue.15
, pp. 7831-7836
-
-
Molnar, G.M.1
Crozat, A.2
Kraeft, S.K.3
Dou, Q.P.4
Chen, L.B.5
Pardee, A.B.6
-
7
-
-
0034530154
-
The rat ortholog of the presumptive flounder antifreeze enhancer-binding protein is a helicase domain-containing protein
-
Miao M., Chan SL, Fletcher GL, Hew CL The rat ortholog of the presumptive flounder antifreeze enhancer-binding protein is a helicase domain-containing protein. Eur J Biochem. 2000 ; 267 (24). 7237-7246.
-
(2000)
Eur J Biochem
, vol.267
, Issue.24
, pp. 7237-7246
-
-
Miao, M.1
Chan, S.L.2
Fletcher, G.L.3
Hew, C.L.4
-
8
-
-
0142074229
-
Spinal muscular atrophies reveal motor neuron vulnerability to defects in ribonucleoprotein handling
-
Anderson K., Talbot K. Spinal muscular atrophies reveal motor neuron vulnerability to defects in ribonucleoprotein handling. Curr Opin Neurol. 2003 ; 16 (5). 595-599.
-
(2003)
Curr Opin Neurol
, vol.16
, Issue.5
, pp. 595-599
-
-
Anderson, K.1
Talbot, K.2
-
9
-
-
5744242172
-
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Grohmann K., Rossoll W., Kobsar I., et al. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum Mol Genet. 2004 ; 13 (18). 2031-2042.
-
(2004)
Hum Mol Genet
, vol.13
, Issue.18
, pp. 2031-2042
-
-
Grohmann, K.1
Rossoll, W.2
Kobsar, I.3
-
10
-
-
31144465300
-
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1
-
Corti S., Locatelli F., Papadimitriou D., et al. Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1. Hum Mol Genet. 2006 ; 15 (2). 167-187.
-
(2006)
Hum Mol Genet
, vol.15
, Issue.2
, pp. 167-187
-
-
Corti, S.1
Locatelli, F.2
Papadimitriou, D.3
-
11
-
-
10744222932
-
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Grohmann K., Varon R., Stolz P., et al. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol. 2003 ; 54 (6). 719-724.
-
(2003)
Ann Neurol
, vol.54
, Issue.6
, pp. 719-724
-
-
Grohmann, K.1
Varon, R.2
Stolz, P.3
-
12
-
-
0345306176
-
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1
-
Pitt M., Houlden H., Jacobs J., et al. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain. 2003 ; 126 (pt 12). 2682-2692.
-
(2003)
Brain
, vol.126
, Issue.12
, pp. 2682-2692
-
-
Pitt, M.1
Houlden, H.2
Jacobs, J.3
-
13
-
-
4444378252
-
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus
-
Maystadt I., Zarhrate M., Landrieu P., et al. Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Hum Mutat. 2004 ; 23 (5). 525-526.
-
(2004)
Hum Mutat
, vol.23
, Issue.5
, pp. 525-526
-
-
Maystadt, I.1
Zarhrate, M.2
Landrieu, P.3
-
14
-
-
15744388520
-
A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1
-
Tachi N., Kikuchi S., Kozuka N., Nogami A. A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1. Pediatr Neurol. 2005 ; 32 (4). 288-290.
-
(2005)
Pediatr Neurol
, vol.32
, Issue.4
, pp. 288-290
-
-
Tachi, N.1
Kikuchi, S.2
Kozuka, N.3
Nogami, A.4
-
15
-
-
33750208771
-
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1
-
Giannini A., Pinto AM, Rossetti G., et al. Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. Intensive Care Med. 2006 ; 32 (11). 1851-1855.
-
(2006)
Intensive Care Med
, vol.32
, Issue.11
, pp. 1851-1855
-
-
Giannini, A.1
Pinto, A.M.2
Rossetti, G.3
-
16
-
-
33744789163
-
Mutation of gene in spinal muscular atrophy respiratory distress type
-
Wong VC, Chung BH, Li S., Goh W., Lee SL Mutation of gene in spinal muscular atrophy respiratory distress type I. Pediatr Neurol. 2006 ; 34 (6). 474-477.
-
(2006)
I. Pediatr Neurol
, vol.34
, Issue.6
, pp. 474-477
-
-
Wong, V.C.1
Chung, B.H.2
Li, S.3
Goh, W.4
Lee, S.L.5
-
17
-
-
34548022629
-
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD1): Defining novel phenotypes through hierarchical cluster analysis
-
Guenther UP, Varon R., Schlicke M., et al. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD1): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat. 2007 ; 28 (8). 808-815.
-
(2007)
Hum Mutat
, vol.28
, Issue.8
, pp. 808-815
-
-
Guenther, U.P.1
Varon, R.2
Schlicke, M.3
-
18
-
-
57849150343
-
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): Determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease
-
Guenther UP, Handoko L., Varon R., et al. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. J Mol Med. 2009 ; 87 (1). 31-41.
-
(2009)
J Mol Med
, vol.87
, Issue.1
, pp. 31-41
-
-
Guenther, U.P.1
Handoko, L.2
Varon, R.3
-
19
-
-
4043166252
-
Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: Spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Appleton RE, Hübner C., Grohmann K., Varon R. Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1). Dev Med Child Neurol. 2004 ; 46 (8). 576.
-
(2004)
Dev Med Child Neurol
, vol.46
, Issue.8
, pp. 576
-
-
Appleton, R.E.1
Hübner, C.2
Grohmann, K.3
Varon, R.4
-
20
-
-
4544341168
-
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD11
-
Guenther UP, Schuelke M., Bertini E., et al. Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD11. Hum Genet. 2004 ; 115 (4). 319-326.
-
(2004)
Hum Genet
, vol.115
, Issue.4
, pp. 319-326
-
-
Guenther, U.P.1
Schuelke, M.2
Bertini, E.3
-
21
-
-
3242686107
-
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Rudnik-Schöneborn S., Stolz P., Varon R., et al. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Neuropediatrics. 2004 ; 35 (3). 174-182.
-
(2004)
Neuropediatrics
, vol.35
, Issue.3
, pp. 174-182
-
-
Rudnik-Schöneborn, S.1
Stolz, P.2
Varon, R.3
-
22
-
-
33847146380
-
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus
-
Hartley L., Kinali M., Knight R., et al. A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. Neuromuscul Disord. 2007 ; 17 (2). 174-179.
-
(2007)
Neuromuscul Disord
, vol.17
, Issue.2
, pp. 174-179
-
-
Hartley, L.1
Kinali, M.2
Knight, R.3
-
23
-
-
0029926857
-
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings
-
Rudnik-Schöneborn S., Forkert R., Hahnen E., Wirth B., Zerres K. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics. 1996 ; 27 (1). 8-15.
-
(1996)
Neuropediatrics
, vol.27
, Issue.1
, pp. 8-15
-
-
Rudnik-Schöneborn, S.1
Forkert, R.2
Hahnen, E.3
Wirth, B.4
Zerres, K.5
-
24
-
-
0036245054
-
Science and society: Genetic counselling and customary consanguineous marriage
-
Modell B., Darr A. Science and society: genetic counselling and customary consanguineous marriage. Nat Rev Genet. 2002 ; 3 (3). 225-229.
-
(2002)
Nat Rev Genet
, vol.3
, Issue.3
, pp. 225-229
-
-
Modell, B.1
Darr, A.2
-
25
-
-
0029115297
-
Consanguinity among the Saudi Arabian population
-
el-Hazmi M., al-Swailem A., Warsy A., al-Swailem AM, Sulaimani R., al-Meshari AA Consanguinity among the Saudi Arabian population. J Med Genet. 1995 ; 32 (8). 623-626.
-
(1995)
J Med Genet
, vol.32
, Issue.8
, pp. 623-626
-
-
El-Hazmi, M.1
Al-Swailem, A.2
Warsy, A.3
Al-Swailem, A.M.4
Sulaimani, R.5
Al-Meshari, A.A.6
-
26
-
-
0034866964
-
Consanguinity and its relevance to clinical genetics
-
Bittles A. Consanguinity and its relevance to clinical genetics. Clin Genet. 2001 ; 60 (2). 89-98.
-
(2001)
Clin Genet
, vol.60
, Issue.2
, pp. 89-98
-
-
Bittles, A.1
-
27
-
-
41449089224
-
Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel
-
Basel-Vanagaite L., Taub E., Drasinover V., et al. Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel. Genet Test. 2008 ; 12 (1). 53-56.
-
(2008)
Genet Test
, vol.12
, Issue.1
, pp. 53-56
-
-
Basel-Vanagaite, L.1
Taub, E.2
Drasinover, V.3
-
28
-
-
27744438585
-
Dilated cardiomyopathy in the nmd mouse: Transgenic rescue an QTLs that improve cardiac function and survival
-
Maddatu TP, Garvey SM, Schroeder DG, et al. Dilated cardiomyopathy in the nmd mouse: transgenic rescue an QTLs that improve cardiac function and survival. Hum Mol Genet. 2005 ; 14 (21). 3179-3189.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.21
, pp. 3179-3189
-
-
Maddatu, T.P.1
Garvey, S.M.2
Schroeder, D.G.3
-
29
-
-
33846837612
-
Muscle MRI in inherited neuromuscular disorders: Past, present and future
-
Mercuri E., Pichiecchio A., Allsop J., Messina S., Pane M., Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present and future. J Magn Reson Imaging. 2007 ; 25 (2). 433-440.
-
(2007)
J Magn Reson Imaging
, vol.25
, Issue.2
, pp. 433-440
-
-
Mercuri, E.1
Pichiecchio, A.2
Allsop, J.3
Messina, S.4
Pane, M.5
Muntoni, F.6
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