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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C

Human molecular genetics, 2001-12, Vol.10 (25), p.2851-2859

2001

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POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Journal of medical genetics, 2005-12, Vol.42 (12), p.907-912

2005

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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2024-2036

2007

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The phenotype of limb-girdle muscular dystrophy type 2I

Neurology, 2003-04, Vol.60 (8), p.1246-1251

2003

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Defective glycosylation in muscular dystrophy

The Lancet (British edition), 2002-11, Vol.360 (9343), p.1419-1421

2002

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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

Journal of medical genetics, 2004-05, Vol.41 (5), p.e61-e61

2004

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Extraordinary phase separation and segregation in vent fluids from the southern East Pacific Rise

Earth and planetary science letters, 2003-02, Vol.206 (3), p.365-378

2003

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Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

Neurology, 2005-12, Vol.65 (12), p.1930-1935

2005

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FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

Neurology, 2003-03, Vol.60 (6), p.988-992

2003

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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Neurology, 2002-07, Vol.59 (2), p.284-287

2002

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Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

Neurology, 2002-05, Vol.58 (9), p.1354-1359

2002

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EM.P.2.01 Expression analysis of α-dystroglycan glycosyltransferases during myoblast-myotube differentiation

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.551-552

2009

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The Other Rāmāyaṇa Women: Regional rejection and response

1, 2016

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Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42

American journal of human genetics, 2000-02, Vol.66 (2), p.428-435

2000

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Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Brain (London, England : 1878), 2007-10, Vol.130 (10), p.2725-2735

2007

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Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

Neuromuscular disorders : NMD, 2003-09, Vol.13 (7), p.554-558

2003

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The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies

Acta myologica, 2005-12, Vol.24 (3), p.217

2005

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Muscular dystrophies due to defective glycosylation of dystroglycan

Acta myologica, 2007-12, Vol.26 (3), p.129-135

2007

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C.P.3.11 LARGE induced hyperglycosylation of alpha-dystroglycan as a therapeutic strategy in secondary dystroglycanopathies

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.872-873

2007

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G.P.2.08 LARGE overexpression in transgenic mice: Implications for therapeutic interventions in muscular dystrophy

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.737-737

2008

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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Nature genetics, 2005-12, Vol.37 (12), p.1312-1314

2005

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Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells

Experimental cell research, 2005-10, Vol.309 (2), p.370-378

2005

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

Human molecular genetics, 2003-11, Vol.12 (21), p.2853-2861

2003

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C

Human molecular genetics, 2001-12, Vol.10 (25), p.2851-2859

2001

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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

Nature genetics, 2001-09, Vol.29 (1), p.17-18

2001

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

The phenotype of limb-girdle muscular dystrophy type 2I

Defective glycosylation in muscular dystrophy

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

Extraordinary phase separation and segregation in vent fluids from the southern East Pacific Rise

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

EM.P.2.01 Expression analysis of α-dystroglycan glycosyltransferases during myoblast-myotube differentiation

The Other Rāmāyaṇa Women: Regional rejection and response

Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42

Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies

Muscular dystrophies due to defective glycosylation of dystroglycan

C.P.3.11 LARGE induced hyperglycosylation of alpha-dystroglycan as a therapeutic strategy in secondary dystroglycanopathies

G.P.2.08 LARGE overexpression in transgenic mice: Implications for therapeutic interventions in muscular dystrophy

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

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