Tangier neuropathy in Italy

Nerve ablation after bronchial thermoplasty and sustained improvement in severe asthma.

BMC pulmonary medicine·2018

Lithium carbonate in amyotrophic lateral sclerosis: lack of efficacy in a dose-finding trial.

Neurology·2010

Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene.

Neurology·2003

Risk of sporadic amyotrophic lateral sclerosis associated with seropositivity for herpesviruses and echovirus-7.

European journal of epidemiology·2003

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.

Cell calcium·2002

Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia.

Italian journal of neurological sciences·2000

Correlative ultrastructural mapping of Lewy pathology reveals regional diversity in Parkinson's and dementia with Lewy bodies.

Acta neuropathologica·2026

The Pick fold in tau filaments from human MAPT mutants.

Acta neuropathologica·2026

Annexin A11 and TDP-43: core players in neurodegeneration.

Acta neuropathologica·2026

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

Acta neuropathologica·2026

Molecular changes during AT/RT progression associated with epithelial-mesenchymal transition and extracellular matrix changes.

Acta neuropathologica·2026

Prion-like transmission and propagation of human β-amyloid to the bank vole rodent model.

Acta neuropathologica·2026

Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.

Journal of clinical and experimental hepatology·2026

The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.

HLA·2026

Adult subarachnoid hemorrhage from vein of Galen aneurysmal malformation due to ruptured feeder aneurysm: A case report with long-term MRI review.

Radiology case reports·2026

Novel Heterozygous Variant in <i>RP1L1</i> Gene With Retinitis Pigmentosa Phenotype: A Case Report.

Ophthalmic surgery, lasers & imaging retina·2025

Large Infected Abdominal Wall Abscess Following a Minor Mechanical Strain: A Case Report.

Cureus·2025

[Main Trunk Interposition for Adult Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery Using a Great Saphenous Vein:Report of a Case].

Kyobu geka. The Japanese journal of thoracic surgery·2025

Related Experiment Videos

Tangier neuropathy in Italy

Related Concept Videos

Nerve ablation after bronchial thermoplasty and sustained improvement in severe asthma.

Lithium carbonate in amyotrophic lateral sclerosis: lack of efficacy in a dose-finding trial.

Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene.

Risk of sporadic amyotrophic lateral sclerosis associated with seropositivity for herpesviruses and echovirus-7.

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.

Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia.

Correlative ultrastructural mapping of Lewy pathology reveals regional diversity in Parkinson's and dementia with Lewy bodies.

The Pick fold in tau filaments from human MAPT mutants.

Annexin A11 and TDP-43: core players in neurodegeneration.

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

Molecular changes during AT/RT progression associated with epithelial-mesenchymal transition and extracellular matrix changes.

Prion-like transmission and propagation of human β-amyloid to the bank vole rodent model.

Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.

The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.

Adult subarachnoid hemorrhage from vein of Galen aneurysmal malformation due to ruptured feeder aneurysm: A case report with long-term MRI review.

Novel Heterozygous Variant in <i>RP1L1</i> Gene With Retinitis Pigmentosa Phenotype: A Case Report.

Large Infected Abdominal Wall Abscess Following a Minor Mechanical Strain: A Case Report.

[Main Trunk Interposition for Adult Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery Using a Great Saphenous Vein:Report of a Case].

Related Experiment Videos

Tangier neuropathy in Italy

Related Concept Videos

Related Articles