Single test for two hereditary neuropathies, CMT1A and HNPP

Copper restriction unmasks axonal degeneration in a mouse model of X-linked hereditary motor neuropathy.

Metallomics : integrated biometal science·2026

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4).

Frontiers in genetics·2022

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation.

Scientific reports·2020

The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

Clinical genetics·2017

Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2016

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.

Clinical genetics·2015

APOB to Estimated APOB Ratio for Screening for the APOE2 Genotype.

Clinical chemistry·2026

Highly Accurate Sequencing Methods for Low-Frequency Variant Detection.

Clinical chemistry·2026

Prognostic Value of Cardiac Myosin Binding Protein C in the General Population: The Akershus Cardiac Examination 1950 Study.

Clinical chemistry·2026

Characterization of the Migration Profile of 36 Therapeutic Monoclonal Antibodies in Serum Protein Electrophoresis and Immunofixation.

Clinical chemistry·2026

Serum Biomarkers for the Non-Invasive Assessment of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): An Update.

Clinical chemistry·2026

Interlaboratory Comparison of a Glucagon and Oxyntomodulin Immuno-LC-MS/MS Assay: Implications for Diabetes Research.

Clinical chemistry·2026

Semaglutide as a potential neuroprotective agent for neurological and neurodegenerative disorders: Mechanisms, preclinical evidence, and translational challenges and opportunities.

Molecular biology reports·2026

Association of dopamine transporter gene DAT1 40-bp 3' UTR VNTR polymorphism (rs28363170) with Psychiatric disorders susceptibility: A study from the Pakistani population.

Molecular biology reports·2026

Cerebellar ataxia in the Philippines: a scoping review of reported cases and practical approach.

Journal of neural transmission (Vienna, Austria : 1996)·2026

Nucleostemin promotes RAD51 filament assembly on double-stranded DNA to protect stalled replication forks.

Nucleic acids research·2026

Relationship between neck weakness in motor neurone disease and respiratory function: a retrospective study.

Neurodegenerative disease management·2026

Generation of mutant human SOD1 knock-in mouse lines at the Rosa26 locus as a platform for developing genome-editing therapies for amyotrophic lateral sclerosis.

Experimental animals·2026

Related Experiment Videos

Single test for two hereditary neuropathies, CMT1A and HNPP

Related Concept Videos

Copper restriction unmasks axonal degeneration in a mouse model of X-linked hereditary motor neuropathy.

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4).

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation.

The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy.

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.

APOB to Estimated APOB Ratio for Screening for the APOE2 Genotype.

Highly Accurate Sequencing Methods for Low-Frequency Variant Detection.

Prognostic Value of Cardiac Myosin Binding Protein C in the General Population: The Akershus Cardiac Examination 1950 Study.

Characterization of the Migration Profile of 36 Therapeutic Monoclonal Antibodies in Serum Protein Electrophoresis and Immunofixation.

Serum Biomarkers for the Non-Invasive Assessment of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): An Update.

Interlaboratory Comparison of a Glucagon and Oxyntomodulin Immuno-LC-MS/MS Assay: Implications for Diabetes Research.

Semaglutide as a potential neuroprotective agent for neurological and neurodegenerative disorders: Mechanisms, preclinical evidence, and translational challenges and opportunities.

Association of dopamine transporter gene DAT1 40-bp 3' UTR VNTR polymorphism (rs28363170) with Psychiatric disorders susceptibility: A study from the Pakistani population.

Cerebellar ataxia in the Philippines: a scoping review of reported cases and practical approach.

Nucleostemin promotes RAD51 filament assembly on double-stranded DNA to protect stalled replication forks.

Relationship between neck weakness in motor neurone disease and respiratory function: a retrospective study.

Generation of mutant human SOD1 knock-in mouse lines at the Rosa26 locus as a platform for developing genome-editing therapies for amyotrophic lateral sclerosis.

Related Experiment Videos

Single test for two hereditary neuropathies, CMT1A and HNPP

Related Concept Videos

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