Search results: Sage Journals

Restricted accessOtherFirst published February, 2012

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

Sing-Chung Li, Wuh-Liang Hwu, Ju-Li Lin [...]

Journal of Child Neurology

Free accessCase reportFirst published 2022

A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report

Vincenzo Montano, Michelangelo Mancuso, Costanza Simoncini [...]

Journal of Neuromuscular Diseases

Restricted accessBrief reportFirst published March, 2026

Characterization of atypical Actinobacillus pleuropneumoniae serovar 1 isolates

Ho To, Michiha Kon, Nayu Kawashima [...]

Journal of Veterinary Diagnostic Investigation

Restricted accessResearch articleFirst published September, 2013

A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis

Arlene V. Drack, Jake N. Miller, David A. Pearce

Journal of Child Neurology

Restricted accessResearch articleFirst published January, 2003

Characterization of gag Gene of Plasma HIV Type 1 in Combination Therapy-Treated AIDS Patients with High Viral Load and Stable CD4 + T Cell Counts

Shreesh Saurya, Zelman Lichtenstein, Abraham Karpas

AIDS Research and Human Retroviruses

Restricted accessResearch articleFirst published October, 2009

Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit

Theodoros Georgiou, Jacinta L. Chuang, R. Max Wynn [...]

Genetic Testing and Molecular Biomarkers

Restricted accessResearch articleFirst published March, 1991

Formation of Noninfectious HIV-1 Virus Particles Lacking a Full-Length Envelope Protein

Lee Ratner, Nancy Vander Heyden, Juan Garcia [...]

AIDS Research and Human Retroviruses

Restricted accessCase reportFirst published May, 2018

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy

Suvasini Sharma, Preeti Singh, Erika Fernandez-Vizarra [...]

Journal of Child Neurology

Free accessResearch articleFirst published May, 2024

A recessive CLN3 variant is responsible for delayed-onset retinal degeneration in Hereford cattle

Rachel R. Reith, Mackenzie C. Batt, Anna M. Fuller [...]

Journal of Veterinary Diagnostic Investigation

Restricted accessOtherFirst published December, 2000

Detection of a Novel Mutation in X-linked Amelogenesis Imperfecta

S.A. Kindelan, A.H. Brook, L. Gangemi [...]

Journal of Dental Research

Restricted accessOtherFirst published February, 2012

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

Sing-Chung Li, Wuh-Liang Hwu, Ju-Li Lin [...]

Journal of Child Neurology

Free accessCase reportFirst published 2022

A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report

Vincenzo Montano, Michelangelo Mancuso, Costanza Simoncini [...]

Journal of Neuromuscular Diseases

Restricted accessBrief reportFirst published March, 2026

Characterization of atypical Actinobacillus pleuropneumoniae serovar 1 isolates

Ho To, Michiha Kon, Nayu Kawashima [...]

Journal of Veterinary Diagnostic Investigation

Restricted accessResearch articleFirst published September, 2013

A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis

Arlene V. Drack, Jake N. Miller, David A. Pearce

Journal of Child Neurology

Restricted accessResearch articleFirst published January, 2003

Characterization of gag Gene of Plasma HIV Type 1 in Combination Therapy-Treated AIDS Patients with High Viral Load and Stable CD4 + T Cell Counts

Shreesh Saurya, Zelman Lichtenstein, Abraham Karpas

AIDS Research and Human Retroviruses

Restricted accessResearch articleFirst published October, 2009

Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit

Theodoros Georgiou, Jacinta L. Chuang, R. Max Wynn [...]

Genetic Testing and Molecular Biomarkers

Restricted accessResearch articleFirst published March, 1991

Formation of Noninfectious HIV-1 Virus Particles Lacking a Full-Length Envelope Protein

Lee Ratner, Nancy Vander Heyden, Juan Garcia [...]

AIDS Research and Human Retroviruses

Restricted accessCase reportFirst published May, 2018

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy

Suvasini Sharma, Preeti Singh, Erika Fernandez-Vizarra [...]

Journal of Child Neurology

Free accessResearch articleFirst published May, 2024

A recessive CLN3 variant is responsible for delayed-onset retinal degeneration in Hereford cattle

Rachel R. Reith, Mackenzie C. Batt, Anna M. Fuller [...]

Journal of Veterinary Diagnostic Investigation

Restricted accessOtherFirst published December, 2000

Detection of a Novel Mutation in X-linked Amelogenesis Imperfecta

S.A. Kindelan, A.H. Brook, L. Gangemi [...]

Journal of Dental Research