Niemann-Pick disease type C. Skin biopsies in parents

Patient homozygous for a recessive POLG mutation presents with features of MERRF.

Neurology·2003

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Brain : a journal of neurology·2003

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Neuromuscular disorders : NMD·2003

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Neurology·2002

Neuropathology of some hereditary conditions affecting central and peripheral nervous system.

Acta neurologica Belgica·2002

[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].

Revue neurologique·2002

Assessment of Cerebral Microvascular Development in Preterm Neonates Using Ultrafast Power Doppler Imaging.

Neuropediatrics·2026

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Neuropediatrics·2026

Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource Country.

Neuropediatrics·2026

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Neuropediatrics·2026

Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

Neuropediatrics·2026

Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

Neuropediatrics·2026

Diagnostic and prognostic role of circular RNAs: Analytical challenges and emerging opportunities.

iScience·2026

Single-cell multiome landscape reveals elovanoid-mediated suppression of inflammatory glial states and induction of homeostatic signaling after ischemic stroke.

Experimental neurology·2026

The Mechanism of Long Non-coding RNA GABPB1-AS1/SLC12A5 Regulating Neuronal Ferroptosis in Epileptic Seizures.

Neurochemical research·2026

Integrative transcriptomics identifies shared aging-associated inhibitory-neuron states and prioritizes RGL2 across postoperative delirium and Alzheimer's disease.

Journal of molecular neuroscience : MN·2026

Gap junction protein connexin 36 proteostatic mechanisms in photoreceptor cells subjected to excitotoxic stress.

Acta biochimica Polonica·2026

Therapeutic Hypothermia Modulates S100B and Oxidative Stress in Neonatal Hypoxic-Ischemic Encephalopathy: Implications of SDF4 as a Novel Biomarker.

Journal of paediatrics and child health·2026

Related Experiment Videos

Niemann-Pick disease type C. Skin biopsies in parents

Related Concept Videos

Patient homozygous for a recessive POLG mutation presents with features of MERRF.

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Neuropathology of some hereditary conditions affecting central and peripheral nervous system.

[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].

Assessment of Cerebral Microvascular Development in Preterm Neonates Using Ultrafast Power Doppler Imaging.

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource Country.

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

Diagnostic and prognostic role of circular RNAs: Analytical challenges and emerging opportunities.

Single-cell multiome landscape reveals elovanoid-mediated suppression of inflammatory glial states and induction of homeostatic signaling after ischemic stroke.

The Mechanism of Long Non-coding RNA GABPB1-AS1/SLC12A5 Regulating Neuronal Ferroptosis in Epileptic Seizures.

Integrative transcriptomics identifies shared aging-associated inhibitory-neuron states and prioritizes RGL2 across postoperative delirium and Alzheimer's disease.

Gap junction protein connexin 36 proteostatic mechanisms in photoreceptor cells subjected to excitotoxic stress.

Therapeutic Hypothermia Modulates S100B and Oxidative Stress in Neonatal Hypoxic-Ischemic Encephalopathy: Implications of SDF4 as a Novel Biomarker.

Related Experiment Videos

Niemann-Pick disease type C. Skin biopsies in parents

Related Concept Videos

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