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Neurogenetics
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March 19, 2024
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
Marija Brankovic, Vukan Ivanovic, Ivana Basta, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
May 15, 2018
Three-Year Follow-Up Study in Patients with Guillain-Barré Syndrome
Vesna Martic, Ivo Bozovic, Ivana Berisavac, et al.
Neurology
|
June 16, 2026
Consensus Definitions of Disease Activity and Clinical Outcomes in Patients With Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Jeffrey A Allen, Filip Eftimov, Luis Querol, et al.
Annals of Neurology
|
October 24, 2024
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
Christopher J Record, Antoinette O'Connor, Nienke E Verbeek, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes
Nunziata Maio, Rotem Orbach, Irina Zaharieva, et al.
European Journal of Human Genetics : EJHG
|
June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models
Barbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Journal of Neuromuscular Diseases
|
February 20, 2025
International collaboration to improve knowledge on myotonic dystrophy type 2
Stojan Peric, Vukan Ivanovic, Emma-Jayne Ashley, et al.
The Journal of Clinical Investigation
|
July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
Nunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Orphanet Journal of Rare Diseases
|
August 17, 2019
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, et al.
Orphanet Journal of Rare Diseases
|
September 7, 2018
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, et al.
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of 12
Search research articles
Search
Showing results (101-110 of 114) with videos related to
Sort By:
Page
of 12
Neurogenetics
|
March 19, 2024
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
Marija Brankovic, Vukan Ivanovic, Ivana Basta, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
May 15, 2018
Three-Year Follow-Up Study in Patients with Guillain-Barré Syndrome
Vesna Martic, Ivo Bozovic, Ivana Berisavac, et al.
Neurology
|
June 16, 2026
Consensus Definitions of Disease Activity and Clinical Outcomes in Patients With Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Jeffrey A Allen, Filip Eftimov, Luis Querol, et al.
Annals of Neurology
|
October 24, 2024
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
Christopher J Record, Antoinette O'Connor, Nienke E Verbeek, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes
Nunziata Maio, Rotem Orbach, Irina Zaharieva, et al.
European Journal of Human Genetics : EJHG
|
June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models
Barbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Journal of Neuromuscular Diseases
|
February 20, 2025
International collaboration to improve knowledge on myotonic dystrophy type 2
Stojan Peric, Vukan Ivanovic, Emma-Jayne Ashley, et al.
The Journal of Clinical Investigation
|
July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
Nunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Orphanet Journal of Rare Diseases
|
August 17, 2019
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, et al.
Orphanet Journal of Rare Diseases
|
September 7, 2018
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, et al.
Page
of 12