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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522

2015

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P357 Riboflavin responsive glutaric aciduria type II: diagnostic pearls and challenges

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S184-S184

2023

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P07 Does spinal surgery hinder intrathecal nusinersen injections in paediatric SMA patients?

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S163-S164

2023

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P213 Beneath the iceberg: spinal muscular atrophy (SMA) and autistic spectrum disorder

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S88-S88

2023

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Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.99-105

2014

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P216 Tracking bone health in paediatric patients with spinal muscular atrophy (SMA)

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S89-S89

2023

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P116 Whole-body muscle magnetic resonance imaging (MRI) in PAX7-congenital myopathy (CM)

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S76-S76

2023

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P06 Real-life outcome data of paediatric patients with spinal muscular atrophy treated with nusinersen: Experience from a tertiary referral center in Turkey

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S163-S163

2023

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CMT AND NEUROGENIC DISEASE: P.340Distal arthrogryposis, peripheral neuropathy and an autosomal dominant pedigree leading to a diagnosis of TRPV4-pathy

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S133-S133

2018

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CMT AND NEUROGENIC DISEASE

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S133

2018

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P.366 - Riboflavin transporter deficiency

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S206-S206

2017

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Riboflavin transporter deficiency

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S206

2017

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SMA THERAPIES I

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S79

2018

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SMA THERAPIES I: P.169Nusinersen experience in spinal muscular atrophy type 1: two-year results of 21 patients

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S79-S79

2018

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DMD registry in Turkey: Highlights

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S301-S301

2015

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Hypertrophic olivary degeneration in children: four new cases and a review of the literature with an emphasis on the MRI findings

British journal of radiology, 2012-05, Vol.85 (1013), p.511-516

2012

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Perspective from spinal muscular atrophy families: Care of a child with tracheostomy and home mechanical ventilatory support

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S192-S192

2015

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Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice?

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S253-S253

2015

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Expanding the pathological phenotype in megaconial congenital muscular dystrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S206-S206

2015

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Congenital myasthenic syndrome due to COLQ mutations: Clues for diagnosis

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S112-S112

2016

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Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S163-S164

2016

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Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S138-S139

2016

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Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S165-S165

2016

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Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S107-S107

2016

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Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay

American journal of neuroradiology : AJNR, 2013-10, Vol.34 (10), p.1952-1957

2013

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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

P357 Riboflavin responsive glutaric aciduria type II: diagnostic pearls and challenges

P07 Does spinal surgery hinder intrathecal nusinersen injections in paediatric SMA patients?

P213 Beneath the iceberg: spinal muscular atrophy (SMA) and autistic spectrum disorder

Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome

P216 Tracking bone health in paediatric patients with spinal muscular atrophy (SMA)

P116 Whole-body muscle magnetic resonance imaging (MRI) in PAX7-congenital myopathy (CM)

P06 Real-life outcome data of paediatric patients with spinal muscular atrophy treated with nusinersen: Experience from a tertiary referral center in Turkey

CMT AND NEUROGENIC DISEASE: P.340Distal arthrogryposis, peripheral neuropathy and an autosomal dominant pedigree leading to a diagnosis of TRPV4-pathy

CMT AND NEUROGENIC DISEASE

P.366 - Riboflavin transporter deficiency

Riboflavin transporter deficiency

SMA THERAPIES I

SMA THERAPIES I: P.169Nusinersen experience in spinal muscular atrophy type 1: two-year results of 21 patients

DMD registry in Turkey: Highlights

Hypertrophic olivary degeneration in children: four new cases and a review of the literature with an emphasis on the MRI findings

Perspective from spinal muscular atrophy families: Care of a child with tracheostomy and home mechanical ventilatory support

Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice?

Expanding the pathological phenotype in megaconial congenital muscular dystrophy

Congenital myasthenic syndrome due to COLQ mutations: Clues for diagnosis

Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review

Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation

Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation

Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center

Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay

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