Arthrogryposis Multiplex Congenita Neurogenic Type Latest Advances

From Synovial Fluid to Musculoskeletal Ultrasound: A Portrayal of Joint Involvement in Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: A Case Series.

Journal: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases

Published: October 15, 2025

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

Journal: Journal of child neurology

Published: October 15, 2025

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Journal: American journal of medical genetics. Part A

Published: February 25, 2025

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Journal: Journal of inherited metabolic disease

Published: May 12, 2023

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.

Journal: Clinical genetics

Published: April 03, 2023

Malignant peripheral nerve sheath tumours in a patient with Neurofibromatosis-1.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: February 20, 2023

Migraine Headaches in Patients with Upper Extremity Compressive Neuropathy.

Journal: Plastic and reconstructive surgery

Published: September 26, 2022

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Journal: Journal of neuromuscular diseases

Published: September 04, 2022

Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy.

Journal: European journal of neurology

Published: July 26, 2022

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.

Journal: Brain : a journal of neurology

Published: July 08, 2022

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.

Journal: Frontiers in genetics

Published: May 27, 2022

Fetuses and infants with Amyoplasia congenita in congenital Zika syndrome: The evidence of a viral cause. A narrative review of 144 cases.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 26, 2022

Arthrogryposis Multiplex Congenita Neurogenic Type Latest Advances

Find the Latest Research About Arthrogryposis Multiplex Congenita Neurogenic Type

From Synovial Fluid to Musculoskeletal Ultrasound: A Portrayal of Joint Involvement in Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: A Case Series.

From Synovial Fluid to Musculoskeletal Ultrasound: A Portrayal of Joint Involvement in Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: A Case Series.

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.

Malignant peripheral nerve sheath tumours in a patient with Neurofibromatosis-1.

Malignant peripheral nerve sheath tumours in a patient with Neurofibromatosis-1.

Migraine Headaches in Patients with Upper Extremity Compressive Neuropathy.

Migraine Headaches in Patients with Upper Extremity Compressive Neuropathy.

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy.

Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy.

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.

Fetuses and infants with Amyoplasia congenita in congenital Zika syndrome: The evidence of a viral cause. A narrative review of 144 cases.

Fetuses and infants with Amyoplasia congenita in congenital Zika syndrome: The evidence of a viral cause. A narrative review of 144 cases.