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Glycosylation defects: a new mechanism for muscular dystrophy?

Human molecular genetics, 2003-10, Vol.12 (suppl-2), p.R259-R264

2003

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Characteristics of a Diverse Cohort of Stroke Patients with SARS-CoV-2 and Outcome by Sex

Journal of stroke and cerebrovascular diseases, 2020-11, Vol.29 (11), p.105314-105314, Article 105314

2020

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Endoscopic trans-iliac approach to L5-S1 disc and foramen - a report on clinical experience

International journal of spine surgery, 2014-01, Vol.8, p.20

2014

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Glycosylation defects in inherited muscle disease

Cellular and molecular life sciences : CMLS, 2003-02, Vol.60 (2), p.251-258

2003

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Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse

Nature genetics, 2001-06, Vol.28 (2), p.151-154

2001

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Precursor arrays for triplet repeat expansion at the fragile X locus

Human molecular genetics, 1994-09, Vol.3 (9), p.1553-1560

1994

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Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35

Human molecular genetics, 1996-05, Vol.5 (5), p.581-590

1996

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Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing

Gene, 1999-11, Vol.240 (2), p.389-398

1999

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Origins of the fragile X syndrome mutation

Journal of medical genetics, 1993-08, Vol.30 (8), p.647-650

1993

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A Literature Review of Different Criterias for Selecting and Cementing a post- A review

Journal of clinical and experimental dentistry, 2011, p.e321-e324

2011

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The epidural works, but the patient hurts! Acute pain management of the chronic pain patient

The Journal of the Arkansas Medical Society, 2009-08, Vol.106 (2), p.43

2009

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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

Human genetics, 2007-07, Vol.121 (6), p.685-690

2007

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Recommendations and Guidance for Steroid Injection Therapy and COVID-19 Vaccine Administration from the American Society of Pain and Neuroscience (ASPN)

Journal of pain research, 2021-01, Vol.14, p.623-629

2021

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Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)

Human genetics, 1993-09, Vol.92 (2), p.133-138

1993

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The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter

Human molecular genetics, 1994-12, Vol.3 (12), p.2115-2121

1994

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A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

Human molecular genetics, 1993-08, Vol.2 (8), p.1161-1167

1993

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FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates

Gene, 1998-08, Vol.216 (1), p.13-19

1998

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Recent amplification of the human FRG1 gene during primate evolution

Gene, 1999-02, Vol.227 (1), p.79-88

1999

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Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders

Human molecular genetics, 2002-10, Vol.11 (21), p.2673-2687

2002

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Effect of processing on thiamin and riboflavin contents of some high-yielding rice varieties of punjab

Journal of the science of food and agriculture, 1990, Vol.52 (3), p.387-391

1990

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Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies

Glycobiology (Oxford), 2005-10, Vol.15 (10), p.912-923

2005

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Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome

Journal of medical genetics, 1995-03, Vol.32 (3), p.236-239

1995

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High-resolution mapping of mouse chromosome 8 identifies an evolutionary chromosomal breakpoint

Mammalian genome, 1998-08, Vol.9 (8), p.603-607

1998

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Fath, the murine homolog of the Drosophila fat tumor suppressor gene, maps to chromosome 8

Mammalian genome, 1997-05, Vol.8 (5), p.383-384

1997

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Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy

BBA - General Subjects, 2002-12, Vol.1573 (3), p.216-224

2002

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Glycosylation defects: a new mechanism for muscular dystrophy?

Characteristics of a Diverse Cohort of Stroke Patients with SARS-CoV-2 and Outcome by Sex

Endoscopic trans-iliac approach to L5-S1 disc and foramen - a report on clinical experience

Glycosylation defects in inherited muscle disease

Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse

Precursor arrays for triplet repeat expansion at the fragile X locus

Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35

Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing

Origins of the fragile X syndrome mutation

A Literature Review of Different Criterias for Selecting and Cementing a post- A review

The epidural works, but the patient hurts! Acute pain management of the chronic pain patient

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

Recommendations and Guidance for Steroid Injection Therapy and COVID-19 Vaccine Administration from the American Society of Pain and Neuroscience (ASPN)

Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)

The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates

Recent amplification of the human FRG1 gene during primate evolution

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders

Effect of processing on thiamin and riboflavin contents of some high-yielding rice varieties of punjab

Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome

High-resolution mapping of mouse chromosome 8 identifies an evolutionary chromosomal breakpoint

Fath, the murine homolog of the Drosophila fat tumor suppressor gene, maps to chromosome 8

Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy

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