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Neuromuscular Disorders : NMD
|
July 24, 2025
TBK1-associated motor neuron disease with concomitant vacuolar myopathy: a case resembling a multisystem proteinopathy
Yasmine Sluyts, Kristof Van Schil, Tine Deconinck, et al.
The Cochrane Database of Systematic Reviews
|
December 15, 2015
Ascorbic acid for the treatment of Charcot-Marie-Tooth disease
Burkhard Gess, Jonathan Baets, Peter De Jonghe, et al.
Neuromuscular Disorders : NMD
|
April 27, 2023
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
Willem De Ridder, Geert de Vries, Kristof Van Schil, et al.
Acta Neurologica Belgica
|
April 25, 2012
Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging
Katlijn Schotsmans, Harald De Cauwer, Jonathan Baets, et al.
Acta Neurologica Belgica
|
February 24, 2023
A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium
Jan L De Bleecker, Kristl G Claeys, Stéphanie Delstanche, et al.
Neuromuscular Disorders : NMD
|
January 11, 2023
Distinct features in adult polyglucosan body disease: a case series
Jonathan De Winter, Gert Cypers, Edwin Jacobs, et al.
HGG Advances
|
September 19, 2025
Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
Sheila M Peeples, Keyana Blake, Brendan L M Sutton, et al.
Pediatric Neurology
|
October 18, 2013
Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity
Joana Serra Caetano, Carmen Costa, Jonathan Baets, et al.
Neurology
|
October 15, 2021
Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis
Fabiana Longo, Daniele De Ritis, Annarita Miluzio, et al.
Neurology
|
November 1, 2013
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
Inès Mademan, Tine Deconinck, Argirios Dinopoulos, et al.
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of 14
Search research articles
Search
Showing results (21-30 of 135) with videos related to
Sort By:
Page
of 14
Neuromuscular Disorders : NMD
|
July 24, 2025
TBK1-associated motor neuron disease with concomitant vacuolar myopathy: a case resembling a multisystem proteinopathy
Yasmine Sluyts, Kristof Van Schil, Tine Deconinck, et al.
The Cochrane Database of Systematic Reviews
|
December 15, 2015
Ascorbic acid for the treatment of Charcot-Marie-Tooth disease
Burkhard Gess, Jonathan Baets, Peter De Jonghe, et al.
Neuromuscular Disorders : NMD
|
April 27, 2023
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
Willem De Ridder, Geert de Vries, Kristof Van Schil, et al.
Acta Neurologica Belgica
|
April 25, 2012
Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging
Katlijn Schotsmans, Harald De Cauwer, Jonathan Baets, et al.
Acta Neurologica Belgica
|
February 24, 2023
A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium
Jan L De Bleecker, Kristl G Claeys, Stéphanie Delstanche, et al.
Neuromuscular Disorders : NMD
|
January 11, 2023
Distinct features in adult polyglucosan body disease: a case series
Jonathan De Winter, Gert Cypers, Edwin Jacobs, et al.
HGG Advances
|
September 19, 2025
Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
Sheila M Peeples, Keyana Blake, Brendan L M Sutton, et al.
Pediatric Neurology
|
October 18, 2013
Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity
Joana Serra Caetano, Carmen Costa, Jonathan Baets, et al.
Neurology
|
October 15, 2021
Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis
Fabiana Longo, Daniele De Ritis, Annarita Miluzio, et al.
Neurology
|
November 1, 2013
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
Inès Mademan, Tine Deconinck, Argirios Dinopoulos, et al.
Page
of 14