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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

American journal of human genetics, 1997-06, Vol.60 (6), p.1411-1422

1997

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Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

Human molecular genetics, 1995-08, Vol.4 (8), p.1273-1284

1995

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Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells

Biochemical journal, 2005-01, Vol.385 (Pt 2), p.433-443

2005

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Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

Proceedings of the National Academy of Sciences - PNAS, 1990-12, Vol.87 (24), p.9625-9629

1990

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Molecular cloning of cDNA for rat argininosuccinate lyase and its expression in rat hepatoma cell lines

Molecular and Cellular Biology, 1986-05, Vol.6 (5), p.1722-1728

1986

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Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): Confirmation of close linkage to D5S39 in French Canadian families

Genomics (San Diego, Calif.), 1992-09, Vol.14 (1), p.188-190

1992

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Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development

Human molecular genetics, 2002-07, Vol.11 (14), p.1605-1614

2002

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Alumorphs—Human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers

Genomics (San Diego, Calif.), 1990-07, Vol.7 (3), p.331-334

1990

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Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population

Human molecular genetics, 1994-03, Vol.3 (3), p.459-463

1994

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Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles

The Journal of biological chemistry, 1997-03, Vol.272 (10), p.6777-6783

1997

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Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy

American journal of human genetics, 1994-12, Vol.55 (6), p.1218-1229

1994

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Linkage disequilibrium analysis of childhoot-onset spinal muscular atrophy (SMA) in the French-Canadian population

Human molecular genetics, 1994, Vol.3 (3), p.459-463

1994

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Association between AgI-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy

American journal of human genetics, 1994, Vol.55 (6), p.1218-1229

1994

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Clues to the Origin of the Mass-Metallicity Relation: Dependence on Star Formation Rate and Galaxy Size

The Astrophysical journal, 2008-01, Vol.672 (2), p.L107-L110

2008

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Nationwide prevalence of rheumatoid arthritis and penetration of disease-modifying drugs in Sweden

Annals of the rheumatic diseases, 2011-04, Vol.70 (4), p.624-629

2011

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Reconsidering the Consequences of Selective Fisheries

Science (American Association for the Advancement of Science), 2012-03, Vol.335 (6072), p.1045-1047

2012

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SEDS: THE SPITZER EXTENDED DEEP SURVEY. SURVEY DESIGN, PHOTOMETRY, AND DEEP IRAC SOURCE COUNTS

The Astrophysical journal, 2013-05, Vol.769 (1), p.1-27

2013

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A CATALOG OF BULGE, DISK, AND TOTAL STELLAR MASS ESTIMATES FOR THE SLOAN DIGITAL SKY SURVEY

The Astrophysical journal. Supplement series, 2014-01, Vol.210 (1), p.1-21

2014

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Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele

The New England journal of medicine, 2019-11, Vol.381 (19), p.1809-1819

2019

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Drug survival on TNF inhibitors in patients with rheumatoid arthritis comparison of adalimumab, etanercept and infliximab

Annals of the rheumatic diseases, 2015-02, Vol.74 (2), p.354-360

2015

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A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

Cell reports (Cambridge), 2016-09, Vol.16 (11), p.2980-2990

2016

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Bulge mass is king: the dominant role of the bulge in determining the fraction of passive galaxies in the Sloan Digital Sky Survey

Monthly notices of the Royal Astronomical Society, 2014-06, Vol.441 (1), p.599-629

2014

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What shapes a galaxy? – unraveling the role of mass, environment, and star formation in forming galactic structure

Monthly notices of the Royal Astronomical Society, 2019-05, Vol.485 (1), p.666-696

2019

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Cerebrospinal fluid hypersecretion in pediatric hydrocephalus

Neurosurgical focus, 2016-11, Vol.41 (5), p.E10-E10

2016

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Disentangling interstellar plasma screens with pulsar VLBI: combining auto- and cross-correlations

Monthly notices of the Royal Astronomical Society, 2019-10, Vol.488 (4), p.4963-4971

2019

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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

Molecular cloning of cDNA for rat argininosuccinate lyase and its expression in rat hepatoma cell lines

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): Confirmation of close linkage to D5S39 in French Canadian families

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development

Alumorphs—Human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy

Linkage disequilibrium analysis of childhoot-onset spinal muscular atrophy (SMA) in the French-Canadian population

Association between AgI-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy

Clues to the Origin of the Mass-Metallicity Relation: Dependence on Star Formation Rate and Galaxy Size

Nationwide prevalence of rheumatoid arthritis and penetration of disease-modifying drugs in Sweden

Reconsidering the Consequences of Selective Fisheries

SEDS: THE SPITZER EXTENDED DEEP SURVEY. SURVEY DESIGN, PHOTOMETRY, AND DEEP IRAC SOURCE COUNTS

A CATALOG OF BULGE, DISK, AND TOTAL STELLAR MASS ESTIMATES FOR THE SLOAN DIGITAL SKY SURVEY

Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele

Drug survival on TNF inhibitors in patients with rheumatoid arthritis comparison of adalimumab, etanercept and infliximab

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

Bulge mass is king: the dominant role of the bulge in determining the fraction of passive galaxies in the Sloan Digital Sky Survey

What shapes a galaxy? – unraveling the role of mass, environment, and star formation in forming galactic structure

Cerebrospinal fluid hypersecretion in pediatric hydrocephalus

Disentangling interstellar plasma screens with pulsar VLBI: combining auto- and cross-correlations

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