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Translational models for vascular cognitive impairment: a review including larger species

BMC medicine, 2017-01, Vol.15 (1), p.16-16, Article 16

2017

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The Colonial/Imperial History of Insect Food Avoidance in the United States

Annals of the Entomological Society of America, 2019-11, Vol.112 (6), p.560-565

2019

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The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

Genetics in medicine, 2019-03, Vol.21 (3), p.676-682

2019

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Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

Annals of clinical and translational neurology, 2016-11, Vol.3 (11), p.844-853

2016

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Brain size at birth throughout human evolution: A new method for estimating neonatal brain size in hominins

Journal of human evolution, 2008-12, Vol.55 (6), p.1064-1074

2008

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NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature

Neuropathology and applied neurobiology, 2022-02, Vol.48 (1), p.e12751-n/a

2022

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Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept

Brain (London, England : 1878), 2016-04, Vol.139 (Pt 4), p.1123-1135

2016

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Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

American journal of human genetics, 2006-09, Vol.79 (3), p.562-566

2006

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Serum Neurofilament light correlates with CADASIL disease severity and survival

Annals of clinical and translational neurology, 2019-01, Vol.6 (1), p.46-56

2019

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Interpretation of NOTCH3 mutations in the diagnosis of CADASIL

Expert review of molecular diagnostics, 2014-06, Vol.14 (5), p.593-603

2014

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Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management

Stroke (1970), 2021-09, Vol.52 (9), p.3025-3032

2021

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Neurofibromas in LZTR1 schwannomatosis

Clinical genetics, 2022-05, Vol.101 (5-6), p.571-572

2022

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Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

Genetics in medicine, 2019-08, Vol.21 (8), p.1895-1895

2019

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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.627-633

2014

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Not just a fallback food: global patterns of insect consumption related to geography, not agriculture

American journal of human biology, 2017-07, Vol.29 (4), p.n/a

Lesnik, Julie J.

2017

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Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Neurology, 2016-10, Vol.87 (17), p.1777-1786

2016

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Termites in the hominin diet: A meta-analysis of termite genera, species and castes as a dietary supplement for South African robust australopithecines

Journal of human evolution, 2014-06, Vol.71, p.94-104

Lesnik, Julie J.

2014

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The origins and practice of insect-foraging technology

Journal of insects as food and feed, 2022-01, Vol.8 (8), p.813-822

2022

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Chimpanzee neonatal brain size: Implications for brain growth in Homo erectus

Journal of human evolution, 2006-08, Vol.51 (2), p.207-212

2006

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Commentary to: Masoli et al. Clinical Outcomes of CADASIL-Associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. (Translational Stroke Research Oct 2018)

Translational stroke research, 2019-10, Vol.10 (5), p.458-459

2019

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Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction

Brain (London, England : 1878), 2023-07, Vol.146 (7), p.2913-2927

2023

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CADASIL and migraine: A narrative review

Cephalalgia, 2010-11, Vol.30 (11), p.1284-1289

2010

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

BMC medicine, 2017-02, Vol.15 (1), p.41-41, Article 41

2017

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The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

Acta neuropathologica communications, 2015-12, Vol.3 (89), p.89-89, Article 89

2015

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A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

Journal of medical genetics, 2009-06, Vol.46 (6), p.412-417

2009

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Translational models for vascular cognitive impairment: a review including larger species

The Colonial/Imperial History of Insect Food Avoidance in the United States

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

Brain size at birth throughout human evolution: A new method for estimating neonatal brain size in hominins

NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

Serum Neurofilament light correlates with CADASIL disease severity and survival

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL

Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management

Neurofibromas in LZTR1 schwannomatosis

Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

Not just a fallback food: global patterns of insect consumption related to geography, not agriculture

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Termites in the hominin diet: A meta-analysis of termite genera, species and castes as a dietary supplement for South African robust australopithecines

The origins and practice of insect-foraging technology

Chimpanzee neonatal brain size: Implications for brain growth in Homo erectus

Commentary to: Masoli et al. Clinical Outcomes of CADASIL-Associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. (Translational Stroke Research Oct 2018)

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction

CADASIL and migraine: A narrative review

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

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