Polyglucosan Body Disease

Polyglucosan Body Disease affects the nervous system and is characterized by peripheral neuropathy and spasticity. Discover the latest research on this disease here.

September 12, 2020
Open Access

Circuit Specific Plasticity of Callosal Inputs Underlies Cortical Takeover

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
Emily PetrusAlan P Koretsky
August 31, 2020
Case Report

Expiratory muscle strength training improves measures of pressure generation and cough strength in a patient with myotonic dystrophy type 1

Neuromuscular Disorders : NMD
Jodi AllenChris Turner
September 12, 2020
Case Report
Open Access

Guillain-Barré-Strohl syndrome and COVID-19: Case report and literature review

Neuromuscular Disorders : NMD
Laura Diez-PorrasAdrià Arboix
August 2, 2020

The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates

Neuromuscular Disorders : NMD
Ilan SelaStella Mitrani-Rosenbaum
September 14, 2020
Clinical Trial

250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands

Neuromuscular Disorders : NMD
Sarah B Neuhausnemaline working group
July 28, 2020
Case Report

SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype

Neuromuscular Disorders : NMD
Vincent Picher-MartelAnnie Dionne
July 28, 2020
Open Access

Short-Term Sensorimotor Deprivation Impacts Feedforward and Feedback Processes of Motor Control

Frontiers in Neuroscience
Cécile R ScottoLucette Toussaint
September 6, 2020

How to capture activities of daily living in myotonic dystrophy type 2?

Neuromuscular Disorders : NMD
Federica MontagneseBenedikt Schoser
August 21, 2020

Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients

Neuromuscular Disorders : NMD
Ranjini SrinivasanCarsten G Bönnemann
July 29, 2020
Review
Open Access

Fatigue in patients with myasthenia gravis. A systematic review of the literature

Neuromuscular Disorders : NMD
Annabel M RuiterMartijn R Tannemaat
August 30, 2020
Case Report

A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy

Neuromuscular Disorders : NMD
Mai HamaguchiKoichi Hirata
July 10, 2020
Review
Open Access

A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene

Rinshō shinkeigaku = Clinical neurology
Kyoko MarutaHiroshi Takashima
July 21, 2020
Case Report
Open Access

An uncommon cause of early infantile liver disease and raised chitotriosidase

JIMD Reports
Srividya SreekantamGirish L Gupte
August 11, 2020

A new and easily used modified myasthenia gravis score

Neuromuscular Disorders : NMD
Pornchai SathirapanyaWarangkana Keeratichananont
September 6, 2020

White matter brain lesions in infantile-onset Pompe disease are not metabolically active using 18 F-FDG PET/MR imaging

Neuromuscular Disorders : NMD
Kristl G ClaeysPhilippe Demaerel

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