Amish albinism: a distinctive autosomal recessive phenotype

Factors associated with Noninvasive ventilation compliance in patients with ALS/MND.

Amyotrophic lateral sclerosis & frontotemporal degeneration·2021

Longitudinal associations between post-traumatic stress disorder and metabolic syndrome severity.

Psychological medicine·2016

Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.

Neurology·2009

Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.

Neurology·2009

Inclusion body myositis functional rating scale: a reliable and valid measure of disease severity.

Muscle & nerve·2008

Maternal lineages and Alzheimer disease risk in the Old Order Amish.

Human genetics·2005

Systematic and proactive evaluation of AIRE missense variant effects.

American journal of human genetics·2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cell villages and Dirichlet modeling map human cell fitness genetics.

American journal of human genetics·2026

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

American journal of human genetics·2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

American journal of human genetics·2026

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

American journal of human genetics·2026

p62/SQSTM1-KEAP1 complex prevents clearance of ubiquitinated Z alpha-1 antitrypsin and aggravates liver proteotoxicity.

The Journal of biological chemistry·2026

Family history of cognitive impairment as a diagnostic clue in Fragile X-associated tremor/ataxia syndrome.

BMJ case reports·2026

Distinct factors drive the progression of tau pathology in Alzheimer's disease.

Fundamental research·2026

Effect of the Combination of Ultra-High-Molecular-Weight Polyethylene, Denim Fabric, and Aluminum on the Functional Properties in Composite Crash Boxes.

Polymers·2026

Mutation-specific neuropathologic signatures in MAPT-associated frontotemporal lobar degeneration.

Acta neuropathologica·2026

Effects of Surface Texture and Color on the Visuo-Tactile Perception of Polyurethane Synthetic Leather for Automotive Seats.

Journal of eye movement research·2026

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Amish albinism: a distinctive autosomal recessive phenotype

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Factors associated with Noninvasive ventilation compliance in patients with ALS/MND.

Longitudinal associations between post-traumatic stress disorder and metabolic syndrome severity.

Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.

Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.

Inclusion body myositis functional rating scale: a reliable and valid measure of disease severity.

Maternal lineages and Alzheimer disease risk in the Old Order Amish.

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Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cell villages and Dirichlet modeling map human cell fitness genetics.

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Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

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Family history of cognitive impairment as a diagnostic clue in Fragile X-associated tremor/ataxia syndrome.

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