Type 2 GM1 gangliosidosis and neuronal ceroid lipofuscinosis

HnRNPA2B1 tunes antimycobacterial immune responses in macrophages through alternative splicing of Irgm1.

Infection and immunity·2026

HnRNPA2B1 tunes antimycobacterial immune responses in macrophages through alternative splicing of Irgm1.

bioRxiv : the preprint server for biology·2025

High-power Raman lasing and efficient anti-Stokes generation in mm-sized crystalline disk resonators.

Optics letters·2024

A national survey investigating the impact of the COVID-19 pandemic on core and higher breast radiology training in the UK.

Clinical radiology·2022

Operationalising coastal resilience to flood and erosion hazard: A demonstration for England.

The Science of the total environment·2021

Livestock host composition rather than land use or climate explains spatial patterns in bluetongue disease in South India.

Scientific reports·2019

Natural Course and Clinical Outcomes of Patients With Hemorrhagic Moyamoya Disease: A Large Cohort Study.

Neurology·2026

Characteristics of Patients With Bibrachial Amyotrophy Due to Spontaneous Spinal CSF Leaks.

Neurology·2026

Clinical Reasoning: A 59-Year-Old Man With Delayed Electric Shock-Like Sensations After a Fall.

Neurology·2026

Metabolic Markers of MRI-Confirmed Lacunar Stroke: Observational and Mendelian Randomization Analyses.

Neurology·2026

Levodopa Use and Characteristics of Freezing-of-Gait in Patients With Parkinson Disease in the NS-Park and PPMI Cohorts.

Neurology·2026

Clinical Reasoning: A 60-Year-Old Diabetic Woman With Fluctuating Visual Disturbances.

Neurology·2026

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.

Biochemistry and biophysics reports·2026

Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant in GAN: A case report and literature review.

Global medical genetics·2026

The genome sequence of the Lesser noctule, Nyctalus leisleri (Kuhl, 1817) (Chiroptera: Vespertilionidae).

Wellcome open research·2026

Additional PAX3 Variants for Dominant Blue Eyes in Cats.

Animal genetics·2026

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus.

Pediatric dermatology·2026

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Pediatric blood & cancer·2026

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Type 2 GM1 gangliosidosis and neuronal ceroid lipofuscinosis

Related Concept Videos

HnRNPA2B1 tunes antimycobacterial immune responses in macrophages through alternative splicing of Irgm1.

HnRNPA2B1 tunes antimycobacterial immune responses in macrophages through alternative splicing of Irgm1.

High-power Raman lasing and efficient anti-Stokes generation in mm-sized crystalline disk resonators.

A national survey investigating the impact of the COVID-19 pandemic on core and higher breast radiology training in the UK.

Operationalising coastal resilience to flood and erosion hazard: A demonstration for England.

Livestock host composition rather than land use or climate explains spatial patterns in bluetongue disease in South India.

Natural Course and Clinical Outcomes of Patients With Hemorrhagic Moyamoya Disease: A Large Cohort Study.

Characteristics of Patients With Bibrachial Amyotrophy Due to Spontaneous Spinal CSF Leaks.

Clinical Reasoning: A 59-Year-Old Man With Delayed Electric Shock-Like Sensations After a Fall.

Metabolic Markers of MRI-Confirmed Lacunar Stroke: Observational and Mendelian Randomization Analyses.

Levodopa Use and Characteristics of Freezing-of-Gait in Patients With Parkinson Disease in the NS-Park and PPMI Cohorts.

Clinical Reasoning: A 60-Year-Old Diabetic Woman With Fluctuating Visual Disturbances.

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.

Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant in GAN: A case report and literature review.

The genome sequence of the Lesser noctule, Nyctalus leisleri (Kuhl, 1817) (Chiroptera: Vespertilionidae).

Additional PAX3 Variants for Dominant Blue Eyes in Cats.

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus.

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

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Type 2 GM1 gangliosidosis and neuronal ceroid lipofuscinosis

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