Arthrogryposis Multiplex Congenita Neurogenic Type Latest Advances

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

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

A Study of Seven Patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Eastern Taiwan: A Case Series with Literature Review.

Journal: Acta neurologica Taiwanica

Published: November 29, 2021

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.

Journal: Brain & development

Published: October 19, 2021

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

Journal: BMC neurology

Published: July 14, 2021

Neurogenic arthrogryposis and the power of phenotyping.

Journal: Neuromuscular disorders : NMD

Published: July 12, 2021

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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.

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.

A Study of Seven Patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Eastern Taiwan: A Case Series with Literature Review.

A Study of Seven Patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Eastern Taiwan: A Case Series with Literature Review.

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

Neurogenic arthrogryposis and the power of phenotyping.

Neurogenic arthrogryposis and the power of phenotyping.