-
3
-
-
0028978717
-
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
-
Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G (1995) Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet 346: 741-742.
-
(1995)
Lancet
, vol.346
, pp. 741-742
-
-
Brahe, C.1
Servidei, S.2
Zappata, S.3
Ricci, E.4
Tonali, P.5
Neri, G.6
-
4
-
-
0030863569
-
When is a deletion not a deletion? When it is converted?
-
Burghes AH (1997) When is a deletion not a deletion? When it is converted? Am J Hum Genet 61: 9-15.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 9-15
-
-
Burghes, A.H.1
-
5
-
-
0031026977
-
The gene encoding p44, a subunit of the transcription factor TFFIH, is involved in large scale deletion associated with Werdnig-Hoffmann disease
-
Bürglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, Egly JM, Melki J (1997) The gene encoding p44, a subunit of the transcription factor TFFIH, is involved in large scale deletion associated with Werdnig-Hoffmann disease. Am J Hum Genet 60: 72-79.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 72-79
-
-
Bürglen, L.1
Seroz, T.2
Miniou, P.3
Lefebvre, S.4
Burlet, P.5
Munnich, A.6
Pequignot, E.V.7
Egly, J.M.8
Melki, J.9
-
6
-
-
0030951097
-
Cramps and minimal EMG abnormalities as preclinical manifestation of spinal muscular atrophy patients with homozygous deletions of the SMN gene
-
Bussaglia E, Tizzano EF, Illa I, Cervera C, Baiget M (1997) Cramps and minimal EMG abnormalities as preclinical manifestation of spinal muscular atrophy patients with homozygous deletions of the SMN gene. Neurology 48: 1443-1445.
-
(1997)
Neurology
, vol.48
, pp. 1443-1445
-
-
Bussaglia, E.1
Tizzano, E.F.2
Illa, I.3
Cervera, C.4
Baiget, M.5
-
7
-
-
0030220199
-
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern
-
Capon F, Levato C, Merlini L, Angelini C, Mostacciuolo ML, Politano L, Novelli G, Dallapicola B (1996) Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern. Neuromusc Disord 6: 261-264.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 261-264
-
-
Capon, F.1
Levato, C.2
Merlini, L.3
Angelini, C.4
Mostacciuolo, M.L.5
Politano, L.6
Novelli, G.7
Dallapicola, B.8
-
8
-
-
0029143853
-
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
-
Cobben JM, Van der Steege G, Grootscholten P, De Visser M, Scheffer H, Buys CHCM (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57: 805-808.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 805-808
-
-
Cobben, J.M.1
Van der Steege, G.2
Grootscholten, P.3
De Visser, M.4
Scheffer, H.5
Buys, C.H.C.M.6
-
9
-
-
31544446845
-
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings
-
Cuscó I, Barceló MJ, Rojas-García R, Illa I, Gamez J, Cervera C, Pou A, Izquierdo G, Baiget M, Tizzano EF (2006) SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol 253: 21-25.
-
(2006)
J Neurol
, vol.253
, pp. 21-25
-
-
Cuscó, I.1
Barceló, M.J.2
Rojas-García, R.3
Illa, I.4
Gamez, J.5
Cervera, C.6
Pou, A.7
Izquierdo, G.8
Baiget, M.9
Tizzano, E.F.10
-
10
-
-
0002428443
-
Disorders of lower motor neurone: the spinal muscular atrophies
-
Dubowitz V, ed. Saunders, London
-
Dubowitz V (1995) Disorders of lower motor neurone: the spinal muscular atrophies. In Muscle Disorders in Childhood, Dubowitz V, ed. Saunders, London.
-
(1995)
In Muscle Disorders in Childhood
-
-
Dubowitz, V.1
-
11
-
-
0032954263
-
Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype
-
Dubowitz V (1999) Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol 3: 49-51.
-
(1999)
Eur J Paediatr Neurol
, vol.3
, pp. 49-51
-
-
Dubowitz, V.1
-
12
-
-
0036154959
-
Quantitative analysis of SMN1 and SMN2 based on real-time Light Cycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B (2002) Quantitative analysis of SMN1 and SMN2 based on real-time Light Cycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70: 358-368.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 358-368
-
-
Feldkötter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
13
-
-
0028785098
-
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals
-
Hahnen E, Forkert R, Marke Ch, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4: 1927-1933.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1927-1933
-
-
Hahnen, E.1
Forkert, R.2
Marke, C.3
Rudnik-Schöneborn, S.4
Schönling, J.5
Zerres, K.6
Wirth, B.7
-
14
-
-
0036042048
-
Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from disease severity
-
Harada Y, Sutomo R, Sadewa AH, Akutsu T, Takeshima Y, Wada H, Matsuo M, Nishio H (2004) Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from disease severity. J Neurol 249: 1211-1219.
-
(2004)
J Neurol
, vol.249
, pp. 1211-1219
-
-
Harada, Y.1
Sutomo, R.2
Sadewa, A.H.3
Akutsu, T.4
Takeshima, Y.5
Wada, H.6
Matsuo, M.7
Nishio, H.8
-
16
-
-
0141834020
-
Evidence for modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
-
Helmken C, Hofmann Y, Schoenen F, Oprea G, Raschke H, Rudnik-Schöneborn S, Zerres K, Wirth B (2003) Evidence for modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet 114: 11-21.
-
(2003)
Hum Genet
, vol.114
, pp. 11-21
-
-
Helmken, C.1
Hofmann, Y.2
Schoenen, F.3
Oprea, G.4
Raschke, H.5
Rudnik-Schöneborn, S.6
Zerres, K.7
Wirth, B.8
-
17
-
-
48249105103
-
Unaffected patients with a homozygous absence of the SMN1 gene
-
Je{ogonek}drzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I (2008) Unaffected patients with a homozygous absence of the SMN1 gene. Eur J Hum Genet 16: 930-9344.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 930-9344
-
-
Jedrzejowska, M.1
Borkowska, J.2
Zimowski, J.3
Kostera-Pruszczyk, A.4
Milewski, M.5
Jurek, M.6
Sielska, D.7
Kostyk, E.8
Nyka, W.9
Zaremba, J.10
Hausmanowa-Petrusewicz, I.11
-
18
-
-
0028797783
-
Identification and characterization of spinal muscular atrophy determining gene
-
Lefebvre S, Burglen L, Roboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M et al. (1995) Identification and characterization of spinal muscular atrophy determining gene. Cell 80: 155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Roboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
-
19
-
-
0032931530
-
Prenatal onset spinal muscular atrophy
-
Macleod MJ, Taylor JE, Lunt PW, Mathew ChG, Robb SA. (1999) Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol 3: 65-72.
-
(1999)
Eur J Paediatr Neurol
, vol.3
, pp. 65-72
-
-
Macleod, M.J.1
Taylor, J.E.2
Lunt, P.W.3
Mathew, C.4
Robb, S.A.5
-
20
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW (2002) Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 4: 20-26.
-
(2002)
Genet Med
, vol.4
, pp. 20-26
-
-
Mailman, M.D.1
Heinz, J.W.2
Papp, A.C.3
Snyder, P.J.4
Sedra, M.S.5
Wirth, B.6
Burghes, A.H.7
Prior, T.W.8
-
21
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Poleski HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Poleski, H.F.3
-
22
-
-
0027057672
-
Report of International SMA Consortium Meeting
-
Munsat T, Davies K (1992) Report of International SMA Consortium Meeting. Neuromusc Disord 2: 423-428.
-
(1992)
Neuromusc Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.1
Davies, K.2
-
23
-
-
0031128779
-
A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation
-
Novelli G, Semprini S, capon F, Dallapiccola B (1997) A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation. Neurogenetics 1: 29-30.
-
(1997)
Neurogenetics
, vol.1
, pp. 29-30
-
-
Novelli, G.1
Semprini S2
Capon, F.3
Dallapiccola, B.4
-
24
-
-
4744368810
-
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
-
Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ (2004) Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet 130A: 307-310.
-
(2004)
Am J Med Genet
, vol.130 A
, pp. 307-310
-
-
Prior, T.W.1
Swoboda, K.J.2
Scott, H.D.3
Hejmanowski, A.Q.4
-
25
-
-
0028896092
-
The gene for neuronal apoptosis inhibitor protein is partially deleted in individuals with spinal muscular atrophy
-
Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Frahani R, Baird S, Besner-Johnston A, Lefevre C, Kang X et al. (1995) The gene for neuronal apoptosis inhibitor protein is partially deleted in individuals with spinal muscular atrophy. Cell 80: 167-178.
-
(1995)
Cell
, vol.80
, pp. 167-178
-
-
Roy, N.1
Mahadevan, M.S.2
McLean, M.3
Shutler, G.4
Yaraghi, Z.5
Frahani, R.6
Baird, S.7
Besner-Johnston, A.8
Lefevre, C.9
Kang, X.10
-
26
-
-
0031710558
-
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
-
Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Zerres K, Dietrich WF, Wirth B, Kunkel LM (1998) Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet 20: 83-86.
-
(1998)
Nat Genet
, vol.20
, pp. 83-86
-
-
Scharf, J.M.1
Endrizzi, M.G.2
Wetter, A.3
Huang, S.4
Thompson, T.G.5
Zerres, K.6
Dietrich, W.F.7
Wirth, B.8
Kunkel, L.M.9
-
27
-
-
0034869225
-
Best practice guidelines for molecular analysis in spinal muscular atrophy
-
Scheffer H, Cobben JM, Matthijs G, Wirth B (2001) Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet 9: 484-491.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 484-491
-
-
Scheffer, H.1
Cobben, J.M.2
Matthijs, G.3
Wirth, B.4
-
28
-
-
0027175977
-
Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen)
-
Thieme A, Mitulla B, Schulze F, Spiegler AW (1993) Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen). Hum Genet 91: 295-297.
-
(1993)
Hum Genet
, vol.91
, pp. 295-297
-
-
Thieme, A.1
Mitulla, B.2
Schulze, F.3
Spiegler, A.W.4
-
29
-
-
0028057987
-
Chronic childhood spinal muscular atrophy in Germany (West-Thuringen) - an epidemiological study
-
Thieme A, Mitulla B, Schulze F, Spiegler AW (1994) Chronic childhood spinal muscular atrophy in Germany (West-Thuringen) - an epidemiological study. Hum Genet 93: 344-346.
-
(1994)
Hum Genet
, vol.93
, pp. 344-346
-
-
Thieme, A.1
Mitulla, B.2
Schulze, F.3
Spiegler, A.W.4
-
30
-
-
0030051493
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 5: 359-365.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 359-365
-
-
Wang, C.H.1
Xu, J.2
Carter, T.A.3
Ross, B.M.4
Dominski, M.K.5
Bellcross, C.A.6
Penchaszadeh, G.K.7
Munsat, T.L.8
Gilliam, T.C.9
-
31
-
-
33645743043
-
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
-
Wirth B, Brichta L, Schrank B, Lochmüler H, Blick S, Baasner A, Heller R (2006) Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 119: 422-428.
-
(2006)
Hum Genet
, vol.119
, pp. 422-428
-
-
Wirth, B.1
Brichta, L.2
Schrank, B.3
Lochmüler, H.4
Blick, S.5
Baasner, A.6
Heller, R.7
-
32
-
-
4644275624
-
Significant increase in the number of the SMN2 gene copies in an adult-onset type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene
-
Yamashita M, Nishio H, Harada Y, Matsuo M, Yamamoto T (2004) Significant increase in the number of the SMN2 gene copies in an adult-onset type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene. J Neurol 52: 101-106.
-
(2004)
J Neurol
, vol.52
, pp. 101-106
-
-
Yamashita, M.1
Nishio, H.2
Harada, Y.3
Matsuo, M.4
Yamamoto, T.5
-
33
-
-
0031587699
-
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III): 569 patients
-
Zerres K, Rudnik-Schöneborn S, Forrest E, Łusakowska A, Borkowska J, Hausmanowa-Petrusewicz I (1997) A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III): 569 patients. J Neurol Sci 146: 67-72.
-
(1997)
J Neurol Sci
, vol.146
, pp. 67-72
-
-
Zerres, K.1
Rudnik-Schöneborn, S.2
Forrest, E.3
Łusakowska, A.4
Borkowska, J.5
Hausmanowa-Petrusewicz, I.6
|