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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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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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Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Neurogenetics, 1997-11, Vol.1 (2), p.141-147

1997

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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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Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy

Nucleic acids research, 1991-05, Vol.19 (9), p.2501-2501

1991

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Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec

Human genetics, 1992-06, Vol.89 (4), p.419-424

1992

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Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

The Lancet (British edition), 1992-01, Vol.339 (8785), p.134-134

1992

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Novel 3678delA mutation in exon 26 of the dystrophin gene causing Duchenne muscular dystrophy

Human mutation, 1998, Vol.Suppl 1, p.S23-S24

1998

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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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SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity

American journal of medical genetics, 1997-10, Vol.72 (1), p.51-58

1997

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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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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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Exposure to an organochlorine pesticide (chlordecone) and development of 18-month-old infants

Neurotoxicology (Park Forest South), 2013-03, Vol.35, p.162-168

2013

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VX-659–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

The New England journal of medicine, 2018-10, Vol.379 (17), p.1599-1611

2018

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Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

Science advances, 2019-04, Vol.5 (4), p.eaav9824-eaav9824

2019

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Cardiac-Resynchronization Therapy for Mild-to-Moderate Heart Failure

The New England journal of medicine, 2010-12, Vol.363 (25), p.2385-2395

2010

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Exagamglogene Autotemcel for Transfusion-Dependent β-Thalassemia

The New England journal of medicine, 2024-05, Vol.390 (18), p.1663-1676

2024

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How large are the productivity losses in contemporary patients with RA, and how soon in relation to diagnosis do they develop?

Annals of the rheumatic diseases, 2011-06, Vol.70 (6), p.1010-1015

2011

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Exagamglogene Autotemcel for Severe Sickle Cell Disease

The New England journal of medicine, 2024-05, Vol.390 (18), p.1649-1662

2024

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Deregulated T Cell Activation and Autoimmunity in Mice Lacking Interleukin- 2 Receptor β

Science (American Association for the Advancement of Science), 1995-06, Vol.268 (5216), p.1472-1476

1995

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Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

PloS one, 2012-04, Vol.7 (4), p.e33572-e33572

2012

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Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial

The Lancet (British edition), 2019-11, Vol.394 (10212), p.1940-1948

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

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

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

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

Direct analysis of amniotic fluid cells by multiplex PCR provides rapid prenatal diagnosis for Duchenne muscular dystrophy

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

Novel 3678delA mutation in exon 26 of the dystrophin gene causing Duchenne muscular dystrophy

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

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity

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

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

Exposure to an organochlorine pesticide (chlordecone) and development of 18-month-old infants

VX-659–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

Cardiac-Resynchronization Therapy for Mild-to-Moderate Heart Failure

Exagamglogene Autotemcel for Transfusion-Dependent β-Thalassemia

How large are the productivity losses in contemporary patients with RA, and how soon in relation to diagnosis do they develop?

Exagamglogene Autotemcel for Severe Sickle Cell Disease

Deregulated T Cell Activation and Autoimmunity in Mice Lacking Interleukin- 2 Receptor β

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial

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