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European Journal of Paediatric Neurology

Volumn 18, Issue 3, 2014, Pages 404-408

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation

(9) Saredi, S a Gibertini, S a Ardissone, A a Fusco, I a Zanotti, S a Blasevich, F a Morandi, L a Moroni, I a Mora, M a

a DEPARTMENT OF NEUROSURGERY (Italy)

Author keywords

Congenital muscular dystrophy; Limb girdle muscular dystrophy; POMT2; Dystroglycan glycosylation; Dystroglycanopathy

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA DYSTROGLYCAN; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; LAMININ; MUSCLE ENZYME; POMT2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; DYSTROGLYCAN; MANNOSYLTRANSFERASE; PROTEIN O-MANNOSYLTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; ELECTROCARDIOGRAPHY; FEMALE; GLYCOSYLATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEG MUSCLE; LIMB GIRDLE MUSCULAR DYSTROPHY; MENTAL DISEASE; MILD COGNITIVE IMPAIRMENT; MISSENSE MUTATION; MITRAL VALVE DISEASE; MUSCLE BIOPSY; MYALGIA; MYOBLAST; NULL ALLELE; PRIORITY JOURNAL; PROTEIN BINDING; TRICUSPID VALVE DISEASE; WECHSLER INTELLIGENCE SCALE; WESTERN BLOTTING; YOUNG ADULT; ADOLESCENT; GENETICS; METABOLISM; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

ADOLESCENT; DYSTROGLYCANS; FEMALE; GLYCOSYLATION; HUMANS; MANNOSYLTRANSFERASES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION;

EID: 84900308518 PISSN: 10903798 EISSN: 15322130 Source Type: Journal
DOI: 10.1016/j.ejpn.2013.10.005 Document Type: Article

Times cited : (15)

References (27)

1
- 84864449491
- The ever-expanding spectrum of congenital muscular dystrophies
- E. Mercuri, and F. Muntoni The ever-expanding spectrum of congenital muscular dystrophies Ann Neurol 72 2012 9 17
- (2012) Ann Neurol , vol.72 , pp. 9-17
- Mercuri, E.¹ Muntoni, F.²

2
- 67649584051
- Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
- D.J. Lefeber, J. Schönberger, E. Morava, M. Guillard, K.M. Huyben, K. Verrijp, O. Grafakou, A. Evangeliou, F.W. Preijers, P. Manta, J. Yildiz, S. Grünewald, M. Spilioti, C. van den Elzen, D. Klein, D. Hess, H. Ashida, J. Hofsteenge, Y. Maeda, L. van den Heuvel, M. Lammens, L. Lehle, and R.A. Wevers Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies Am J Hum Genet 85 2009 76 86
- (2009) Am J Hum Genet , vol.85 , pp. 76-86
- Lefeber, D.J.¹ Schönberger, J.² Morava, E.³ Guillard, M.⁴ Huyben, K.M.⁵ Verrijp, K.⁶ Grafakou, O.⁷ Evangeliou, A.⁸ Preijers, F.W.⁹ Manta, P.¹⁰ Yildiz, J.¹¹ Grünewald, S.¹² Spilioti, M.¹³ Van Den Elzen, C.¹⁴ Klein, D.¹⁵ Hess, D.¹⁶ Ashida, H.¹⁷ Hofsteenge, J.¹⁸ Maeda, Y.¹⁹ Van Den Heuvel, L.²⁰ more..

3
- 79952391340
- A dystroglycan mutation associated with limb-girdle muscular dystrophy
- Y. Hara, B. Balci-Hayta, T. Yoshida-Moriguchi, M. Kanagawa, D. Beltrán-Valero de Bernabé, H. Gündeşli, T. Willer, J.S. Satz, R.W. Crawford, S.J. Burden, S. Kunz, M.B. Oldstone, A. Accardi, B. Talim, F. Muntoni, H. Topaloǧlu, P. Dinçer, and K.P. Campbell A dystroglycan mutation associated with limb-girdle muscular dystrophy N Engl J Med 364 2011 939 946
- (2011) N Engl J Med , vol.364 , pp. 939-946
- Hara, Y.¹ Balci-Hayta, B.² Yoshida-Moriguchi, T.³ Kanagawa, M.⁴ Beltrán-Valero De Bernabé, D.⁵ Gündeşli, H.⁶ Willer, T.⁷ Satz, J.S.⁸ Crawford, R.W.⁹ Burden, S.J.¹⁰ Kunz, S.¹¹ Oldstone, M.B.¹² Accardi, A.¹³ Talim, B.¹⁴ Muntoni, F.¹⁵ Topaloǧlu, H.¹⁶ Dinçer, P.¹⁷ Campbell, K.P.¹⁸

4
- 84855283452
- Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
- D.J. Lefeber, A.P. de Brouwer, E. Morava, M. Riemersma, J.H. Schuurs-Hoeijmakers, B. Absmanner, K. Verrijp, W.M. van den Akker, K. Huijben, G. Steenbergen, J. van Reeuwijk, A. Jozwiak, N. Zucker, A. Lorber, M. Lammens, C. Knopf, H. van Bokhoven, S. Grünewald, L. Lehle, L. Kapusta, H. Mandel, and R.A. Wevers Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation PLoS Genet 7 2011 e1002427
- (2011) PLoS Genet , vol.7 , pp. 1002427
- Lefeber, D.J.¹ De Brouwer, A.P.² Morava, E.³ Riemersma, M.⁴ Schuurs-Hoeijmakers, J.H.⁵ Absmanner, B.⁶ Verrijp, K.⁷ Van Den Akker, W.M.⁸ Huijben, K.⁹ Steenbergen, G.¹⁰ Van Reeuwijk, J.¹¹ Jozwiak, A.¹² Zucker, N.¹³ Lorber, A.¹⁴ Lammens, M.¹⁵ Knopf, C.¹⁶ Van Bokhoven, H.¹⁷ Grünewald, S.¹⁸ Lehle, L.¹⁹ Kapusta, L.²⁰ Mandel, H.²¹ Wevers, R.A.²² more..

5
- 84860348118
- ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
- T. Willer, H. Lee, M. Lommel, T. Yoshida-Moriguchi, D.B. de Bernabe, D. Venzke, S. Cirak, H. Schachter, J. Vajsar, T. Voit, F. Muntoni, A.S. Loder, W.B. Dobyns, T.L. Winder, S. Strahl, K.D. Mathews, S.F. Nelson, S.A. Moore, and K.P. Campbell ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome Nat Genet 44 2012 575 580
- (2012) Nat Genet , vol.44 , pp. 575-580
- Willer, T.¹ Lee, H.² Lommel, M.³ Yoshida-Moriguchi, T.⁴ De Bernabe, D.B.⁵ Venzke, D.⁶ Cirak, S.⁷ Schachter, H.⁸ Vajsar, J.⁹ Voit, T.¹⁰ Muntoni, F.¹¹ Loder, A.S.¹² Dobyns, W.B.¹³ Winder, T.L.¹⁴ Strahl, S.¹⁵ Mathews, K.D.¹⁶ Nelson, S.F.¹⁷ Moore, S.A.¹⁸ Campbell, K.P.¹⁹

6
- 84860322514
- Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
- T. Roscioli, E.J. Kamsteeg, K. Buysse, I. Maystadt, J. van Reeuwijk, C. van den Elzen, E. van Beusekom, M. Riemersma, R. Pfundt, L.E. Vissers, M. Schraders, U. Altunoglu, M.F. Buckley, H.G. Brunner, B. Grisart, H. Zhou, J.A. Veltman, C. Gilissen, G.M. Mancini, P. Delrée, M.A. Willemsen, D.P. Ramadža, D. Chitayat, C. Bennett, E. Sheridan, E.A. Peeters, G.M. Tan-Sindhunata, C.E. de Die-Smulders, K. Devriendt, H. Kayserili, O.A. El-Hashash, D.L. Stemple, D.J. Lefeber, Y.Y. Lin, and H. van Bokhoven Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan Nat Genet 44 2012 581 585
- (2012) Nat Genet , vol.44 , pp. 581-585
- Roscioli, T.¹ Kamsteeg, E.J.² Buysse, K.³ Maystadt, I.⁴ Van Reeuwijk, J.⁵ Van Den Elzen, C.⁶ Van Beusekom, E.⁷ Riemersma, M.⁸ Pfundt, R.⁹ Vissers, L.E.¹⁰ Schraders, M.¹¹ Altunoglu, U.¹² Buckley, M.F.¹³ Brunner, H.G.¹⁴ Grisart, B.¹⁵ Zhou, H.¹⁶ Veltman, J.A.¹⁷ Gilissen, C.¹⁸ Mancini, G.M.¹⁹ Delrée, P.²⁰ more..

7
- 84866063186
- Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
- M.C. Manzini, D.E. Tambunan, R.S. Hill, T.W. Yu, T.M. Maynard, E.L. Heinzen, K.V. Shianna, C.R. Stevens, J.N. Partlow, B.J. Barry, J. Rodriguez, V.A. Gupta, A.K. Al-Qudah, W.M. Eyaid, J.M. Friedman, M.A. Salih, R. Clark, I. Moroni, M. Mora, A.H. Beggs, S.B. Gabriel, and C.A. Walsh Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome Am J Hum Genet 91 2012 541 547
- (2012) Am J Hum Genet , vol.91 , pp. 541-547
- Manzini, M.C.¹ Tambunan, D.E.² Hill, R.S.³ Yu, T.W.⁴ Maynard, T.M.⁵ Heinzen, E.L.⁶ Shianna, K.V.⁷ Stevens, C.R.⁸ Partlow, J.N.⁹ Barry, B.J.¹⁰ Rodriguez, J.¹¹ Gupta, V.A.¹² Al-Qudah, A.K.¹³ Eyaid, W.M.¹⁴ Friedman, J.M.¹⁵ Salih, M.A.¹⁶ Clark, R.¹⁷ Moroni, I.¹⁸ Mora, M.¹⁹ Beggs, A.H.²⁰ Gabriel, S.B.²¹ Walsh, C.A.²² more..

8
- 84867904131
- DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
- R. Barone, C. Aiello, V. Race, E. Morava, F. Foulquier, M. Riemersma, C. Passarelli, D. Concolino, M. Carella, F. Santorelli, W. Vleugels, E. Mercuri, D. Garozzo, L. Sturiale, S. Messina, J. Jaeken, A. Fiumara, R.A. Wevers, E. Bertini, G. Matthijs, and D.J. Lefeber DPM2-CDG: a muscular dystrophy- dystroglycanopathy syndrome with severe epilepsy Ann Neurol 72 2012 550 558
- (2012) Ann Neurol , vol.72 , pp. 550-558
- Barone, R.¹ Aiello, C.² Race, V.³ Morava, E.⁴ Foulquier, F.⁵ Riemersma, M.⁶ Passarelli, C.⁷ Concolino, D.⁸ Carella, M.⁹ Santorelli, F.¹⁰ Vleugels, W.¹¹ Mercuri, E.¹² Garozzo, D.¹³ Sturiale, L.¹⁴ Messina, S.¹⁵ Jaeken, J.¹⁶ Fiumara, A.¹⁷ Wevers, R.A.¹⁸ Bertini, E.¹⁹ Matthijs, G.²⁰ Lefeber, D.J.²¹ more..

9
- 84873369278
- ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
- S. Cirak, A.R. Foley, R. Herrmann, T. Willer, S. Yau, E. Stevens, S. Torelli, L. Brodd, A. Kamynina, P. Vondracek, H. Roper, C. Longman, R. Korinthenberg, G. Marrosu, P. Nürnberg, UK10K Consortium, D.E. Michele, V. Plagnol, M. Hurles, S.A. Moore, C.A. Sewry, K.P. Campbell, T. Voit, and F. Muntoni ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies Brain 136 2013 269 281
- (2013) Brain , vol.136 , pp. 269-281
- Cirak, S.¹ Foley, A.R.² Herrmann, R.³ Willer, T.⁴ Yau, S.⁵ Stevens, E.⁶ Torelli, S.⁷ Brodd, L.⁸ Kamynina, A.⁹ Vondracek, P.¹⁰ Roper, H.¹¹ Longman, C.¹² Korinthenberg, R.¹³ Marrosu, G.¹⁴ Nürnberg, P.¹⁵ Consortium, U.¹⁶ Michele, D.E.¹⁷ Plagnol, V.¹⁸ Hurles, M.¹⁹ Moore, S.A.²⁰ more..

10
- 84870935092
- Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
- S. Vuillaumier-Barrot, C. Bouchet-Séraphin, M. Chelbi, L. Devisme, S. Quentin, S. Gazal, A. Laquerrière, C. Fallet-Bianco, P. Loget, S. Odent, D. Carles, A. Bazin, J. Aziza, A. Clemenson, F. Guimiot, M. Bonnière, S. Monnot, C. Bole-Feysot, J.P. Bernard, L. Loeuillet, M. Gonzales, K. Socha, B. Grandchamp, T. Attié-Bitach, F. Encha-Razavi, and N. Seta Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly Am J Hum Genet 91 2012 1135 1143
- (2012) Am J Hum Genet , vol.91 , pp. 1135-1143
- Vuillaumier-Barrot, S.¹ Bouchet-Séraphin, C.² Chelbi, M.³ Devisme, L.⁴ Quentin, S.⁵ Gazal, S.⁶ Laquerrière, A.⁷ Fallet-Bianco, C.⁸ Loget, P.⁹ Odent, S.¹⁰ Carles, D.¹¹ Bazin, A.¹² Aziza, J.¹³ Clemenson, A.¹⁴ Guimiot, F.¹⁵ Bonnière, M.¹⁶ Monnot, S.¹⁷ Bole-Feysot, C.¹⁸ Bernard, J.P.¹⁹ Loeuillet, L.²⁰ more..

11
- 84876414078
- Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan
- E. Stevens, K.J. Carss, S. Cirak, A.R. Foley, S. Torelli, T. Willer, D.E. Tambunan, S. Yau, L. Brodd, C.A. Sewry, L. Feng, G. Haliloglu, D. Orhan, W.B. Dobyns, G.M. Enns, M. Manning, A. Krause, M.A. Salih, C.A. Walsh, M. Hurles, K.P. Campbell, M.C. Manzini, UK10K Consortium, D. Stemple, Y.Y. Lin, and F. Muntoni Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan Am J Hum Genet 92 2013 354 365
- (2013) Am J Hum Genet , vol.92 , pp. 354-365
- Stevens, E.¹ Carss, K.J.² Cirak, S.³ Foley, A.R.⁴ Torelli, S.⁵ Willer, T.⁶ Tambunan, D.E.⁷ Yau, S.⁸ Brodd, L.⁹ Sewry, C.A.¹⁰ Feng, L.¹¹ Haliloglu, G.¹² Orhan, D.¹³ Dobyns, W.B.¹⁴ Enns, G.M.¹⁵ Manning, M.¹⁶ Krause, A.¹⁷ Salih, M.A.¹⁸ Walsh, C.A.¹⁹ Hurles, M.²⁰ more..

12
- 84875953109
- Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
- K. Buysse, M. Riemersma, G. Powell, J. van Reeuwijk, D. Chitayat, T. Roscioli, E.J. Kamsteeg, C. van den Elzen, E. van Beusekom, S. Blaser, R. Babul-Hirji, W. Halliday, G.J. Wright, D.L. Stemple, Y.Y. Lin, D.J. Lefeber, and H. van Bokhoven Missense mutations in β-1,3-N- acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome Hum Mol Genet 22 2013 1746 1754
- (2013) Hum Mol Genet , vol.22 , pp. 1746-1754
- Buysse, K.¹ Riemersma, M.² Powell, G.³ Van Reeuwijk, J.⁴ Chitayat, D.⁵ Roscioli, T.⁶ Kamsteeg, E.J.⁷ Van Den Elzen, C.⁸ Van Beusekom, E.⁹ Blaser, S.¹⁰ Babul-Hirji, R.¹¹ Halliday, W.¹² Wright, G.J.¹³ Stemple, D.L.¹⁴ Lin, Y.Y.¹⁵ Lefeber, D.J.¹⁶ Van Bokhoven, H.¹⁷

13
- 84880285119
- Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
- K.J. Carss, E. Stevens, A.R. Foley, S. Cirak, M. Riemersma, S. Torelli, A. Hoischen, T. Willer, M. van Scherpenzeel, S.A. Moore, S. Messina, E. Bertini, C.G. Bönnemann, J.E. Abdenur, C.M. Grosmann, A. Kesari, J. Punetha, R. Quinlivan, L.B. Waddell, H.K. Young, E. Wraige, S. Yau, L. Brodd, L. Feng, C. Sewry, D.G. Macarthur, K.N. North, E. Hoffman, D.L. Stemple, M.E. Hurles, H. van Bokhoven, K.P. Campbell, D.J. Lefeber, UK10K Consortium, Y.Y. Lin, and F. Muntoni Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan Am J Hum Genet 93 2013 29 41
- (2013) Am J Hum Genet , vol.93 , pp. 29-41
- Carss, K.J.¹ Stevens, E.² Foley, A.R.³ Cirak, S.⁴ Riemersma, M.⁵ Torelli, S.⁶ Hoischen, A.⁷ Willer, T.⁸ Van Scherpenzeel, M.⁹ Moore, S.A.¹⁰ Messina, S.¹¹ Bertini, E.¹² Bönnemann, C.G.¹³ Abdenur, J.E.¹⁴ Grosmann, C.M.¹⁵ Kesari, A.¹⁶ Punetha, J.¹⁷ Quinlivan, R.¹⁸ Waddell, L.B.¹⁹ Young, H.K.²⁰ more..

14
- 84876664165
- Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
- L.T. Jae, M. Raaben, M. Riemersma, E. van Beusekom, V.A. Blomen, A. Velds, R.M. Kerkhoven, J.E. Carette, H. Topaloglu, P. Meinecke, M.W. Wessels, D.J. Lefeber, S.P. Whelan, H. van Bokhoven, and T.R. Brummelkamp Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry Science 340 2013 479 483
- (2013) Science , vol.340 , pp. 479-483
- Jae, L.T.¹ Raaben, M.² Riemersma, M.³ Van Beusekom, E.⁴ Blomen, V.A.⁵ Velds, A.⁶ Kerkhoven, R.M.⁷ Carette, J.E.⁸ Topaloglu, H.⁹ Meinecke, P.¹⁰ Wessels, M.W.¹¹ Lefeber, D.J.¹² Whelan, S.P.¹³ Van Bokhoven, H.¹⁴ Brummelkamp, T.R.¹⁵

15
- 26944438148
- POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
- J. van Reeuwijk, M. Janssen, C. van den Elzen, D. Beltran-Valero de Bernabe, P. Sabatelli, and L. Merlini et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome J Med Genet 42 2005 907 912
- (2005) J Med Genet , vol.42 , pp. 907-912
- Van Reeuwijk, J.¹ Janssen, M.² Van Den Elzen, C.³ Beltran-Valero De Bernabe, D.⁴ Sabatelli, P.⁵ Merlini, L.⁶

16
- 33746206200
- POMT2 mutation in a patient with 'MEB-like' phenotype
- E. Mercuri, A. D'Amico, A. Tessa, A. Berardinelli, M. Pane, S. Messina, J. van Reeuwijk, E. Bertini, F. Muntoni, and F.M. Santorelli POMT2 mutation in a patient with 'MEB-like' phenotype Neuromuscul Disord 16 2006 446 448
- (2006) Neuromuscul Disord , vol.16 , pp. 446-448
- Mercuri, E.¹ D'Amico, A.² Tessa, A.³ Berardinelli, A.⁴ Pane, M.⁵ Messina, S.⁶ Van Reeuwijk, J.⁷ Bertini, E.⁸ Muntoni, F.⁹ Santorelli, F.M.¹⁰

17
- 35148838187
- POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
- R. Biancheri, A. Falace, A. Tessa, M. Pedemonte, S. Scapolan, D. Cassandrini, C. Aiello, A. Rossi, P. Broda, F. Zara, F.M. Santorelli, C. Minetti, and C. Bruno POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes Biochem Biophys Res Commun 363 2007 1033 1037
- (2007) Biochem Biophys Res Commun , vol.363 , pp. 1033-1037
- Biancheri, R.¹ Falace, A.² Tessa, A.³ Pedemonte, M.⁴ Scapolan, S.⁵ Cassandrini, D.⁶ Aiello, C.⁷ Rossi, A.⁸ Broda, P.⁹ Zara, F.¹⁰ Santorelli, F.M.¹¹ Minetti, C.¹² Bruno, C.¹³

18
- 34548745870
- New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation
- A. Yanagisawa, C. Bouchet, P.Y. Van den Bergh, J.M. Cuisset, L. Viollet, F. Leturcq, N.B. Romero, S. Quijano-Roy, M. Fardeau, N. Seta, and P. Guicheney New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation Neurology 69 2007 1254 1260
- (2007) Neurology , vol.69 , pp. 1254-1260
- Yanagisawa, A.¹ Bouchet, C.² Van Den Bergh, P.Y.³ Cuisset, J.M.⁴ Viollet, L.⁵ Leturcq, F.⁶ Romero, N.B.⁷ Quijano-Roy, S.⁸ Fardeau, M.⁹ Seta, N.¹⁰ Guicheney, P.¹¹

19
- 46449124425
- POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study
- S. Messina, M. Mora, E. Pegoraro, A. Pini, T. Mongini, A. D'Amico, M. Pane, C. Aiello, C. Bruno, R. Biancheri, A. Berardinelli, C. Boito, L. Farina, L. Morandi, I. Moroni, R. Pezzani, A. Pichiecchio, E. Ricci, A. Ruggieri, S. Saredi, C. Scuderi, A. Tessa, A. Toscano, G. Tortorella, C.P. Trevisan, C. Uggetti, F.M. Santorelli, E. Bertini, and E. Mercuri POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study Neuromuscul Disord 18 2008 565 571
- (2008) Neuromuscul Disord , vol.18 , pp. 565-571
- Messina, S.¹ Mora, M.² Pegoraro, E.³ Pini, A.⁴ Mongini, T.⁵ D'Amico, A.⁶ Pane, M.⁷ Aiello, C.⁸ Bruno, C.⁹ Biancheri, R.¹⁰ Berardinelli, A.¹¹ Boito, C.¹² Farina, L.¹³ Morandi, L.¹⁴ Moroni, I.¹⁵ Pezzani, R.¹⁶ Pichiecchio, A.¹⁷ Ricci, E.¹⁸ Ruggieri, A.¹⁹ Saredi, S.²⁰ more..

20
- 67349212888
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- T. Murakami, Y.K. Hayashi, M. Ogawa, S. Noguchi, K.P. Campbell, M. Togawa, T. Inoue, A. Oka, K. Ohno, I. Nonaka, and I. Nishino A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI Brain Dev 2009 465 468
- (2009) Brain Dev , pp. 465-468
- Murakami, T.¹ Hayashi, Y.K.² Ogawa, M.³ Noguchi, S.⁴ Campbell, K.P.⁵ Togawa, M.⁶ Inoue, T.⁷ Oka, A.⁸ Ohno, K.⁹ Nonaka, I.¹⁰ Nishino, I.¹¹

21
- 67650886258
- POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation
- A. Yanagisawa, C. Bouchet, S. Quijano-Roy, S. Vuillaumier-Barrot, N. Clarke, S. Odent, D. Rodriguez, N.B. Romero, M. Osawa, T. Endo, A.L. Taratuto, N. Seta, and P. Guicheney POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation Eur J Med Genet 52 2009 201 206
- (2009) Eur J Med Genet , vol.52 , pp. 201-206
- Yanagisawa, A.¹ Bouchet, C.² Quijano-Roy, S.³ Vuillaumier-Barrot, S.⁴ Clarke, N.⁵ Odent, S.⁶ Rodriguez, D.⁷ Romero, N.B.⁸ Osawa, M.⁹ Endo, T.¹⁰ Taratuto, A.L.¹¹ Seta, N.¹² Guicheney, P.¹³

22
- 34848837334
- Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
- C. Godfrey, E. Clement, R. Mein, M. Brockington, J. Smith, B. Talim, V. Straub, S. Robb, R. Quinlivan, L. Feng, C. Jimenez-Mallebrera, E. Mercuri, A.Y. Manzur, M. Kinali, S. Torelli, S.C. Brown, C.A. Sewry, K. Bushby, H. Topaloglu, K. North, S. Abbs, and F. Muntoni Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan Brain 130 2007 2725 2735
- (2007) Brain , vol.130 , pp. 2725-2735
- Godfrey, C.¹ Clement, E.² Mein, R.³ Brockington, M.⁴ Smith, J.⁵ Talim, B.⁶ Straub, V.⁷ Robb, S.⁸ Quinlivan, R.⁹ Feng, L.¹⁰ Jimenez-Mallebrera, C.¹¹ Mercuri, E.¹² Manzur, A.Y.¹³ Kinali, M.¹⁴ Torelli, S.¹⁵ Brown, S.C.¹⁶ Sewry, C.A.¹⁷ Bushby, K.¹⁸ Topaloglu, H.¹⁹ North, K.²⁰ Abbs, S.²¹ Muntoni, F.²² more..

23
- 33745817404
- Physical and functional association of human protein O- mannosyltransferases 1 and 2
- K. Akasaka-Manya, H. Manya, A. Nakajima, M. Kawakita, and T. Endo Physical and functional association of human protein O-mannosyltransferases 1 and 2 J Biol Chem 281 2006 19339 19345
- (2006) J Biol Chem , vol.281 , pp. 19339-19345
- Akasaka-Manya, K.¹ Manya, H.² Nakajima, A.³ Kawakita, M.⁴ Endo, T.⁵

24
- 77249095040
- Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2
- H. Manya, K. Akasaka-Manya, A. Nakajima, M. Kawakita, and T. Endo Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2 J Biochem 147 2010 337 344
- (2010) J Biochem , vol.147 , pp. 337-344
- Manya, H.¹ Akasaka-Manya, K.² Nakajima, A.³ Kawakita, M.⁴ Endo, T.⁵

25
- 0037173670
- Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
- D.E. Michele, R. Barresi, M. Kanagawa, F. Saito, R.D. Cohn, J.S. Satz, J. Dollar, I. Nishino, R.I. Kelley, H. Somer, V. Straub, K.D. Mathews, S.A. Moore, and K.P. Campbell Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies Nature 418 2002 417 422
- (2002) Nature , vol.418 , pp. 417-422
- Michele, D.E.¹ Barresi, R.² Kanagawa, M.³ Saito, F.⁴ Cohn, R.D.⁵ Satz, J.S.⁶ Dollar, J.⁷ Nishino, I.⁸ Kelley, R.I.⁹ Somer, H.¹⁰ Straub, V.¹¹ Mathews, K.D.¹² Moore, S.A.¹³ Campbell, K.P.¹⁴

26
- 84896547368
- Novel cardiovascular findings in association with a POMT2 mutation: Three siblings with α-dystroglycanopathy
- 10.1038/ejhg.2013.165 [Epub ahead of print]
- H.R. Martinez, W.J. Craigen, M. Ummat, A.M. Adesina, T.E. Lotze, and J.L. Jefferies Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy Eur J Hum Genet 2013 Sep 4 10.1038/ejhg.2013.165 [Epub ahead of print]
- (2013) Eur J Hum Genet
- Martinez, H.R.¹ Craigen, W.J.² Ummat, M.³ Adesina, A.M.⁴ Lotze, T.E.⁵ Jefferies, J.L.⁶

27
- 69949154343
- A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity
- C. Jimenez-Mallebrera, S. Torelli, L. Feng, J. Kim, C. Godfrey, E. Clement, R. Mein, S. Abbs, S.C. Brown, K.P. Campbell, S. Kröger, B. Talim, H. Topaloglu, R. Quinlivan, H. Roper, A.M. Childs, M. Kinali, C.A. Sewry, and F. Muntoni A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity Brain Pathol 19 2009 596 611
- (2009) Brain Pathol , vol.19 , pp. 596-611
- Jimenez-Mallebrera, C.¹ Torelli, S.² Feng, L.³ Kim, J.⁴ Godfrey, C.⁵ Clement, E.⁶ Mein, R.⁷ Abbs, S.⁸ Brown, S.C.⁹ Campbell, K.P.¹⁰ Kröger, S.¹¹ Talim, B.¹² Topaloglu, H.¹³ Quinlivan, R.¹⁴ Roper, H.¹⁵ Childs, A.M.¹⁶ Kinali, M.¹⁷ Sewry, C.A.¹⁸ Muntoni, F.¹⁹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.