Suchergebnisse - "Gonorazky, Hernan"

1

Congenital myopathy with “corona” fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A

von: Gonorazky, Hernan D.

2017transfer abstract, in: Sperm competition in golden cuttlefish

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2

Signs and Symptoms in Congenital Myopathies

von: Gonorazky, Hernan D.

2019, in: Seminars in pediatric neurology

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3

Muscle MRI patterns for limb girdle muscle dystrophies: systematic review

von: Alawneh, Issa

2023, in: Journal of neurology

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4

Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies

von: Alawneh, Issa

2024, in: Pediatric drugs

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5

Titin related myopathy with ophthalmoplegia. A novel phenotype

von: Alawneh, Issa

2023, in: Neuromuscular disorders

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6

Immune-mediated rippling muscle disease and myasthenia gravis

von: Bettini, Mariela

2016, in: Decomposition of polycarbonate/acrylonitrile-butadiene-styrene blends in e-waste packaging resin and recovery of debrominated carbon materials by supercritical water oxidation process

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7

PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications

von: Qashqari, Hebah

2022transfer abstract, in: Sperm competition in golden cuttlefish

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8

Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care

von: Menon, Deepak

2022transfer abstract, in: Sperm competition in golden cuttlefish

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9

Uniparental disomy unveils a novel recessive mutation in POMT2

von: Brun, Brianna N.

2018, in: Sperm competition in golden cuttlefish

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10

Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy

von: Chiang, Jackie

2023, in: Sleep medicine

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11

The Child & Youth CompreHensIve Longitudinal Database for Deep Brain Stimulation (CHILD-DBS)

von: Yan, Han

2020, in: Child's nervous system

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12

Feasibility of a home-based exergame therapy for youth with spinal muscular atrophy

von: Iraqi, Ihsane

2023, in: Journal of the neurological sciences

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13

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

von: Schartner, Vanessa

2016, in: Acta neuropathologica

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