-
1
-
-
0001302916
-
About "juvenile form" of progressive muscle atrophy, its correlation to muscle pseudohypertrophy
-
Erb W. About "juvenile form" of progressive muscle atrophy, its correlation to muscle pseudohypertrophy [in German]. Dtsch Arch Klin Med. 1884;34:467-519.
-
(1884)
Dtsch Arch Klin Med
, vol.34
, pp. 467-519
-
-
Erb, W.1
-
2
-
-
0029334512
-
The limb-girdle muscular dystrophies - Proposal for a new nomenclature
-
Bushby KM, Beckmann JS. The limb-girdle muscular dystrophies - proposal for a new nomenclature. Neuromuscul Disord. 1995;5:337-43.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 337-343
-
-
Bushby, K.M.1
Beckmann, J.S.2
-
3
-
-
0026027805
-
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage
-
Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III. 1991;312:141-8.
-
(1991)
C R Acad Sci III
, vol.312
, pp. 141-148
-
-
Beckmann, J.S.1
Richard, I.2
Hillaire, D.3
Broux, O.4
Antignac, C.5
Bois, E.6
-
4
-
-
0028997311
-
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval
-
Allamand V, Broux O, Richard I, Fougerousse F, Chiannilkulchai N, Bourg N, et al. Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval. Am J Hum Genet. 1995;56:1417-30.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1417-1430
-
-
Allamand, V.1
Broux, O.2
Richard, I.3
Fougerousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
-
5
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell. 1995;81:27-40.
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
Fougerousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
-
7
-
-
3042824625
-
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
-
Fanin M, Fulizio L, Nascimbeni AC, Spinazzi M, Piluso G, Ventriglia VM, et al. Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Hum Mutat. 2004;24:52-62.
-
(2004)
Hum Mutat
, vol.24
, pp. 52-62
-
-
Fanin, M.1
Fulizio, L.2
Nascimbeni, A.C.3
Spinazzi, M.4
Piluso, G.5
Ventriglia, V.M.6
-
8
-
-
16944362484
-
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins
-
Richard I, Brenguier L, Dincer P, Roudaut C, Bady B, Burgunder JM, et al. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet. 1997;60:1128-38.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1128-1138
-
-
Richard, I.1
Brenguier, L.2
Dincer, P.3
Roudaut, C.4
Bady, B.5
Burgunder, J.M.6
-
9
-
-
0033361883
-
Calpainopathy-a survey of mutations and polymorphisms
-
Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, et al. Calpainopathy-a survey of mutations and polymorphisms. Am J Hum Genet. 1999;64: 1524-40.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1524-1540
-
-
Richard, I.1
Roudaut, C.2
Saenz, A.3
Pogue, R.4
Grimbergen, J.E.5
Anderson, L.V.6
-
10
-
-
0034893933
-
Calpain 3 gene mutations: Genetic and clinico-pathologic findings in limb-girdle muscular dystrophy
-
Chae J, Minami N, Jin Y, Nakagawa M, Murayama K, Igarashi F, et al. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. Neuromuscul Disord. 2001;11:547-55.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 547-555
-
-
Chae, J.1
Minami, N.2
Jin, Y.3
Nakagawa, M.4
Murayama, K.5
Igarashi, F.6
-
11
-
-
10744221015
-
Mutation spectrum of CAPN3 gene in LGMD 2A patients in Croatia
-
Milic A, Piluso G, Ventriglia V, D'Amico F, Kovac B, Trlaja A, et al. Mutation spectrum of CAPN3 gene in LGMD 2A patients in Croatia. Eur J Hum Genet. 2002; 10 Suppl 1:181.
-
(2002)
Eur J Hum Genet
, vol.10
, Issue.SUPPL. 1
, pp. 181
-
-
Milic, A.1
Piluso, G.2
Ventriglia, V.3
D'Amico, F.4
Kovac, B.5
Trlaja, A.6
-
12
-
-
4444324529
-
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
-
Chrobakova T, Hermanova M, Kroupova I, Vondracek P, Marikova T, Mazanec R, et al. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. Neuromuscul Disord. 2004;14:659-65.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 659-665
-
-
Chrobakova, T.1
Hermanova, M.2
Kroupova, I.3
Vondracek, P.4
Marikova, T.5
Mazanec, R.6
-
13
-
-
0031662389
-
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A
-
Anderson LV, Davison K, Moss JA, Richard I, Fardeau M, Tome FM, et al. Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. Am J Pathol. 1998;153:1169-79.
-
(1998)
Am J Pathol
, vol.153
, pp. 1169-1179
-
-
Anderson, L.V.1
Davison, K.2
Moss, J.A.3
Richard, I.4
Fardeau, M.5
Tome, F.M.6
-
14
-
-
0035852977
-
Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A
-
Talim B, Ognibene A, Mattioli E, Richard I, Anderson LV, Merlini L. Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A. Neurology. 2001;56:692-3.
-
(2001)
Neurology
, vol.56
, pp. 692-693
-
-
Talim, B.1
Ognibene, A.2
Mattioli, E.3
Richard, I.4
Anderson, L.V.5
Merlini, L.6
-
15
-
-
0031468710
-
Strategy of genetic and epidemiological study of muscular dystrophies in Croatia
-
Canki-Klain N, Zurak N. Strategy of genetic and epidemiological study of muscular dystrophies in Croatia. Pediatrica Croatica. 1997;41:75-9.
-
(1997)
Pediatrica Croatica
, vol.41
, pp. 75-79
-
-
Canki-Klain, N.1
Zurak, N.2
-
16
-
-
10744232576
-
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia
-
Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, et al. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. Am J Med Genet. 2004;125:152-6.
-
(2004)
Am J Med Genet
, vol.125
, pp. 152-156
-
-
Canki-Klain, N.1
Milic, A.2
Kovac, B.3
Trlaja, A.4
Grgicevic, D.5
Zurak, N.6
-
17
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
18
-
-
0034146423
-
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia
-
Pogoda TV, Krakhmaleva IN, Lipatova NA, Shakhovskaya NI, Shishkin SS, Limborska SA. High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia. Hum Mutat. 2000;15:295.
-
(2000)
Hum Mutat
, vol.15
, pp. 295
-
-
Pogoda, T.V.1
Krakhmaleva, I.N.2
Lipatova, N.A.3
Shakhovskaya, N.I.4
Shishkin, S.S.5
Limborska, S.A.6
-
19
-
-
33645629721
-
LGMD 2A in Bulgarian patients-mutations and polymorphisms in CAPN3 gene
-
Todorova A, Georgieva B, Tournev I, Kremensky I. LGMD 2A in Bulgarian patients-mutations and polymorphisms in CAPN3 gene. Eur J Hum Genet. 2003;11 Suppl 1:206.
-
(2003)
Eur J Hum Genet
, vol.11
, Issue.SUPPL. 1
, pp. 206
-
-
Todorova, A.1
Georgieva, B.2
Tournev, I.3
Kremensky, I.4
-
20
-
-
33645632512
-
Calpain-3 mutations in Turkey: 10 Years experience
-
Balci B, Talim B, Haliloglu G, Aurino S, Akcoren Z, Leturcq F, et al. Calpain-3 mutations in Turkey: 10 years experience. Neuromuscul Disord. 2004;14:606.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 606
-
-
Balci, B.1
Talim, B.2
Haliloglu, G.3
Aurino, S.4
Akcoren, Z.5
Leturcq, F.6
-
21
-
-
1442350946
-
Clinical, molecular and genetic features of calpainopathy in Slovenia
-
Meznaric-Petrusa MM, Zidar J, Zupancic N, Fanin M, Angelini C, Piluso G, et al. Clinical, molecular and genetic features of calpainopathy in Slovenia. Neuromuscul Disord. 2002;12:731.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 731
-
-
Meznaric-Petrusa, M.M.1
Zidar, J.2
Zupancic, N.3
Fanin, M.4
Angelini, C.5
Piluso, G.6
-
22
-
-
0036931942
-
Clinical variability in calpainopathy: What makes the difference?
-
de Paula F, Vainzof M, Passos-Bueno MR, de Cassia M Pavanello R, Matioli SR, V B Anderson L, et al. Clinical variability in calpainopathy: what makes the difference? Eur J Hum Genet. 2002;10:825-32.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 825-832
-
-
Paula, F.1
Vainzof, M.2
Passos-Bueno, M.R.3
De Cassia, M.4
Pavanello, R.5
Matioli, S.R.6
Anderson, L.V.B.7
-
23
-
-
9844227894
-
Calpain-3 deficiency causes a mild muscular dystrophy in childhood
-
Topaloglu H, Dincer P, Richard I, Akcoren Z, Alehan D, Ozme S, et al. Calpain-3 deficiency causes a mild muscular dystrophy in childhood. Neuropediatrics. 1997; 28:212-6.
-
(1997)
Neuropediatrics
, vol.28
, pp. 212-216
-
-
Topaloglu, H.1
Dincer, P.2
Richard, I.3
Akcoren, Z.4
Alehan, D.5
Ozme, S.6
|