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The molecular and cellular defects underlying Pelizaeus-Merzbacher disease

Expert reviews in molecular medicine, 2008-05, Vol.10, p.e14-e14, Article e14

Woodward, Karen J

2008

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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

Genome medicine, 2019-12, Vol.11 (1), p.80-17, Article 80

2019

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Over- and Underdosage of SOX3 Is Associated with Infundibular Hypoplasia and Hypopituitarism

American journal of human genetics, 2005-05, Vol.76 (5), p.833-849

2005

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Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3136-3145

2021

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Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations

ACS omega, 2022-07, Vol.7 (29), p.25039-25045

2022

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Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2016-04, Vol.171B (3), p.458-467

2016

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Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

Neurogenetics, 2007-01, Vol.8 (1), p.39-44

2007

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Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome

American journal of human genetics, 2005-05, Vol.76 (5), p.750-762

2005

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Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

Npj genomic medicine, 2018-12, Vol.3 (1), p.33-9, Article 33

2018

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Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Molecular genetics & genomic medicine, 2019-02, Vol.7 (2), p.e00507-n/a

2019

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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

Cold Spring Harbor molecular case studies, 2021-06, Vol.7 (3), p.a005991

2021

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Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

American journal of human genetics, 2005-12, Vol.77 (6), p.966-987

2005

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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease

Brain (London, England : 1878), 2005-04, Vol.128 (4), p.743-751

2005

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A review of structural brain abnormalities in Pallister‐Killian syndrome

Molecular genetics & genomic medicine, 2018-01, Vol.6 (1), p.92-98

2018

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Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

Npj genomic medicine, 2019-05, Vol.4 (1), Article 11

2019

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Regeneration of skeletal muscle from transplanted immortalised myoblasts is oligoclonal

Journal of cell science, 2004-07, Vol.117 (Pt 15), p.3259-3269

2004

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Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

Npj genomic medicine, 2019, Vol.4, p.11-11

2019

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Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement

American journal of medical genetics. Part A, 2021, Vol.185 (10), p.3136-3145

2021

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Trial of Solanezumab for Mild Dementia Due to Alzheimer’s Disease

The New England journal of medicine, 2018-01, Vol.378 (4), p.321-330

2018

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Human omental-derived adipose stem cells increase ovarian cancer proliferation, migration, and chemoresistance

PloS one, 2013-12, Vol.8 (12), p.e81859

2013

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Reading the mind in the eyes in PTSD: Limited Moderation by the presence of a service dog

Journal of psychiatric research, 2022-11, Vol.155, p.320-330

2022

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Impact of Model Choice When Studying the Relationship Between Blood Pressure Variability and Risk of Stroke Recurrence

Hypertension (Dallas, Tex. 1979), 2021-11, Vol.78 (5), p.1520-1526

2021

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Using implementation facilitation to implement primary care mental health integration via clinical video telehealth in rural clinics: protocol for a hybrid type 2 cluster randomized stepped-wedge design

Implementation science : IS, 2019-03, Vol.14 (1), p.33-33, Article 33

2019

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The molecular and cellular defects underlying Pelizaeus-Merzbacher disease

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

Over- and Underdosage of SOX3 Is Associated with Infundibular Hypoplasia and Hypopituitarism

Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement

Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease

A review of structural brain abnormalities in Pallister‐Killian syndrome

Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

Atypical nested 22q11.2 duplications between LCR 22B and LCR 22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Regeneration of skeletal muscle from transplanted immortalised myoblasts is oligoclonal

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement

Trial of Solanezumab for Mild Dementia Due to Alzheimer’s Disease

Human omental-derived adipose stem cells increase ovarian cancer proliferation, migration, and chemoresistance

Reading the mind in the eyes in PTSD: Limited Moderation by the presence of a service dog

Endomembrane targeting of human OAS1 p46 augments antiviral activity

Impact of Model Choice When Studying the Relationship Between Blood Pressure Variability and Risk of Stroke Recurrence

Using implementation facilitation to implement primary care mental health integration via clinical video telehealth in rural clinics: protocol for a hybrid type 2 cluster randomized stepped-wedge design

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