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Neuromuscular Disorders : NMD
|
January 22, 2002
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci
Emilia Bellone, Carmelo Rodolico, Antonio Toscano, et al.
Clinical Neurology and Neurosurgery
|
January 26, 2020
Recurrent intracranial hemorrhage and cerebral venous sinus thrombosis: an atypical case of Neuro-Behçet's Syndrome
Fabrizio Giammello, Cristina Dell'Aera, Francesco Grillo, et al.
Mitochondrion
|
April 2, 2021
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
Michelangelo Mancuso, Chiara La Morgia, Maria Lucia Valentino, et al.
Journal of Neurology
|
October 1, 2014
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?
Olimpia Musumeci, Stefen Brady, Carmelo Rodolico, et al.
Heliyon
|
October 26, 2020
Minor stroke with bilateral acute infarctions and combined vascular anomalies: A complex case report
Fabrizio Giammello, Cristina Dell'Aera, Francesco Grillo, et al.
Orphanet Journal of Rare Diseases
|
October 11, 2013
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
Simone Sampaolo, Teresa Esposito, Olimpia Farina, et al.
Frontiers in Molecular Neuroscience
|
July 14, 2020
Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis
Gian Luca Vita, M'Hammed Aguennouz, Francesca Polito, et al.
Annals of Neurology
|
April 1, 2003
Phenotype modulators in myophosphorylase deficiency
Andrea Martinuzzi, Elena Sartori, Marina Fanin, et al.
JIMD Reports
|
September 6, 2021
Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII)
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, et al.
Pain Medicine (Malden, Mass.)
|
January 7, 2020
High-Dose Intravenous Immunoglobulin Is Effective in Painful Diabetic Polyneuropathy Resistant to Conventional Treatments. Results of a Double-Blind, Randomized, Placebo-Controlled, Multicenter Trial
Stefano Jann, Raffaella Fazio, Dario Cocito, et al.
Page
of 23
Search research articles
Search
Showing results (111-120 of 223) with videos related to
Sort By:
Page
of 23
Neuromuscular Disorders : NMD
|
January 22, 2002
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci
Emilia Bellone, Carmelo Rodolico, Antonio Toscano, et al.
Clinical Neurology and Neurosurgery
|
January 26, 2020
Recurrent intracranial hemorrhage and cerebral venous sinus thrombosis: an atypical case of Neuro-Behçet's Syndrome
Fabrizio Giammello, Cristina Dell'Aera, Francesco Grillo, et al.
Mitochondrion
|
April 2, 2021
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
Michelangelo Mancuso, Chiara La Morgia, Maria Lucia Valentino, et al.
Journal of Neurology
|
October 1, 2014
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?
Olimpia Musumeci, Stefen Brady, Carmelo Rodolico, et al.
Heliyon
|
October 26, 2020
Minor stroke with bilateral acute infarctions and combined vascular anomalies: A complex case report
Fabrizio Giammello, Cristina Dell'Aera, Francesco Grillo, et al.
Orphanet Journal of Rare Diseases
|
October 11, 2013
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
Simone Sampaolo, Teresa Esposito, Olimpia Farina, et al.
Frontiers in Molecular Neuroscience
|
July 14, 2020
Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis
Gian Luca Vita, M'Hammed Aguennouz, Francesca Polito, et al.
Annals of Neurology
|
April 1, 2003
Phenotype modulators in myophosphorylase deficiency
Andrea Martinuzzi, Elena Sartori, Marina Fanin, et al.
JIMD Reports
|
September 6, 2021
Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII)
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, et al.
Pain Medicine (Malden, Mass.)
|
January 7, 2020
High-Dose Intravenous Immunoglobulin Is Effective in Painful Diabetic Polyneuropathy Resistant to Conventional Treatments. Results of a Double-Blind, Randomized, Placebo-Controlled, Multicenter Trial
Stefano Jann, Raffaella Fazio, Dario Cocito, et al.
Page
of 23