Search results: Sage Journals

Restricted accessOtherFirst published February, 2004

Actin-Related Myopathy Without Any Missense Mutation in the ACTA1 Gene

Hans H. Goebel, Knut Brockmann, Carsten G. Bönnemann [...]

Journal of Child Neurology

Restricted accessResearch articleFirst published September, 2022

Improving Molecular and Histopathology in Diaphragm Muscle of the Double Transgenic ACTA1-MCM/FLExDUX4 Mouse Model of FSHD with Systemic Antisense Therapy

Ngoc Lu-Nguyen, Alberto Malerba, Marina Antoni Pineda [...]

Human Gene Therapy

Restricted accessOtherFirst published June, 2006

Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1,Which Has Previously Been Associated With Actinopathy

Hans H. Goebel, Knut Brockman, Carsten G. Bönnemann [...]

Journal of Child Neurology

Restricted accessOtherFirst published June, 2006

Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1,Which Has Previously Been Associated With Actinopathy

Hans H. Goebel, Knut Brockman, Carsten G. Bönnemann [...]

Journal of Child Neurology

Restricted accessOtherFirst published June, 2006

Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1,Which Has Previously Been Associated With Actinopathy

Hans H. Goebel, Knut Brockman, Carsten G. Bönnemann [...]

Journal of Child Neurology

Restricted accessResearch articleFirst published February, 2014

Skeletal Muscle Atrophy in R6/2 Mice – Altered Circulating Skeletal Muscle Markers and Gene Expression Profile Changes

Anna Magnusson-Lind, Marcus Davidsson, Edina Silajdžić [...]

Journal of Huntington's Disease

Restricted accessCase reportFirst published June, 2026

Ovarian Thecal Metaplasia of the Adrenal Gland: A Contemporary Case Series With Immunohistochemistry

Natasha Santhanam, Debra L. Zynger

International Journal of Surgical Pathology

Restricted accessResearch articleFirst published 2026

Fibromatosis-Like Metaplastic Carcinoma of Breast: A Clinicopathological Study of 6 Patients

Hania Naveed, Romana Idress, Maidha Ehsan [...]

International Journal of Surgical Pathology

Restricted accessOtherFirst published July, 2008

Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy

Shafeeq Ladha, Stephen Coons, Stanley Johnsen [...]

Journal of Child Neurology

Free accessResearch articleFirst published July 30, 2021

Progression or Not – A Small Natural History Study of Genetical Confirmed Congenital Myopathies

Ulla Werlauff, Pernille Diemer Hansen, Nanna Witting [...]

Journal of Neuromuscular Diseases

Restricted accessOtherFirst published February, 2004

Actin-Related Myopathy Without Any Missense Mutation in the ACTA1 Gene

Hans H. Goebel, Knut Brockmann, Carsten G. Bönnemann [...]

Journal of Child Neurology

Restricted accessResearch articleFirst published September, 2022

Improving Molecular and Histopathology in Diaphragm Muscle of the Double Transgenic ACTA1-MCM/FLExDUX4 Mouse Model of FSHD with Systemic Antisense Therapy

Ngoc Lu-Nguyen, Alberto Malerba, Marina Antoni Pineda [...]

Human Gene Therapy

Restricted accessOtherFirst published June, 2006

Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1,Which Has Previously Been Associated With Actinopathy

Hans H. Goebel, Knut Brockman, Carsten G. Bönnemann [...]

Journal of Child Neurology

Restricted accessOtherFirst published June, 2006

Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1,Which Has Previously Been Associated With Actinopathy

Hans H. Goebel, Knut Brockman, Carsten G. Bönnemann [...]

Journal of Child Neurology

Restricted accessOtherFirst published June, 2006

Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1,Which Has Previously Been Associated With Actinopathy

Hans H. Goebel, Knut Brockman, Carsten G. Bönnemann [...]

Journal of Child Neurology

Restricted accessResearch articleFirst published February, 2014

Skeletal Muscle Atrophy in R6/2 Mice – Altered Circulating Skeletal Muscle Markers and Gene Expression Profile Changes

Anna Magnusson-Lind, Marcus Davidsson, Edina Silajdžić [...]

Journal of Huntington's Disease

Restricted accessCase reportFirst published June, 2026

Ovarian Thecal Metaplasia of the Adrenal Gland: A Contemporary Case Series With Immunohistochemistry

Natasha Santhanam, Debra L. Zynger

International Journal of Surgical Pathology

Restricted accessResearch articleFirst published 2026

Fibromatosis-Like Metaplastic Carcinoma of Breast: A Clinicopathological Study of 6 Patients

Hania Naveed, Romana Idress, Maidha Ehsan [...]

International Journal of Surgical Pathology

Restricted accessOtherFirst published July, 2008

Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy

Shafeeq Ladha, Stephen Coons, Stanley Johnsen [...]

Journal of Child Neurology

Free accessResearch articleFirst published July 30, 2021

Progression or Not – A Small Natural History Study of Genetical Confirmed Congenital Myopathies

Ulla Werlauff, Pernille Diemer Hansen, Nanna Witting [...]

Journal of Neuromuscular Diseases