Nerve biopsy findings in Niemann-Pick type II (NPC)

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

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

Brain : a journal of neurology·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

Distinctive properties of the prion protein in the brain and retina in the amyloidosis associated with the PRNP F198S mutation.

Acta neuropathologica·2026

Genetic subtypes of multiple sclerosis severity are uncoupled from inflammatory lesion burden.

Acta neuropathologica·2026

Emerging roles of granzymes in neurodegeneration and neuroinflammation: mechanistic insights and therapeutic opportunities.

Acta neuropathologica·2026

Sellar region neurocytomas exhibit a CIMP and neuroendocrine-like epigenetic signature distinct from other intra-axial neurocytomas.

Acta neuropathologica·2026

Cerebrospinal fluid cell-free DNA sequencing in pediatric CNS tumors: towards liquid molecular neuropathology.

Acta neuropathologica·2026

Activated microglial phenotypes in the hippocampal CA2 subfield are implicated in Lewy body disease progression.

Acta neuropathologica·2026

Penile Cutaneous Nerve Distribution Pattern: An Anatomical Study to Guide Penile Surgery.

Andrology·2026

Does acute pyelonephritis skew outcomes in registrational trials of novel antibiotics for complicated urinary tract infections? A systematic review and meta-analysis.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America·2026

Preventive Treatment With Ceftriaxone Attenuates Neuropathic Pain and Anxiety-Like Behaviour in a Mouse Model of Partial Sciatic Nerve Ligation.

European journal of pain (London, England)·2026

Independent and combined predictive value of nutritional, electrolyte, inflammatory, and insulin resistance indices for post-stroke infection in acute ischemic stroke: a retrospective study.

Frontiers in nutrition·2026

Platelet-Rich Plasma Modulates Neuroinflammation in an iPSC Model of Sensory Neurons and Microglia.

International journal of molecular sciences·2026

A Clinical Practice Framework for Ultrasound-Informed Multimodal Management of Post-Stroke Spasticity: A Proof-of-Concept Case.

Life (Basel, Switzerland)·2026

Related Experiment Videos

Nerve biopsy findings in Niemann-Pick type II (NPC)

Related Concept Videos

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

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

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

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].

Distinctive properties of the prion protein in the brain and retina in the amyloidosis associated with the PRNP F198S mutation.

Genetic subtypes of multiple sclerosis severity are uncoupled from inflammatory lesion burden.

Emerging roles of granzymes in neurodegeneration and neuroinflammation: mechanistic insights and therapeutic opportunities.

Sellar region neurocytomas exhibit a CIMP and neuroendocrine-like epigenetic signature distinct from other intra-axial neurocytomas.

Cerebrospinal fluid cell-free DNA sequencing in pediatric CNS tumors: towards liquid molecular neuropathology.

Activated microglial phenotypes in the hippocampal CA2 subfield are implicated in Lewy body disease progression.

Penile Cutaneous Nerve Distribution Pattern: An Anatomical Study to Guide Penile Surgery.

Does acute pyelonephritis skew outcomes in registrational trials of novel antibiotics for complicated urinary tract infections? A systematic review and meta-analysis.

Preventive Treatment With Ceftriaxone Attenuates Neuropathic Pain and Anxiety-Like Behaviour in a Mouse Model of Partial Sciatic Nerve Ligation.

Independent and combined predictive value of nutritional, electrolyte, inflammatory, and insulin resistance indices for post-stroke infection in acute ischemic stroke: a retrospective study.

Platelet-Rich Plasma Modulates Neuroinflammation in an iPSC Model of Sensory Neurons and Microglia.

A Clinical Practice Framework for Ultrasound-Informed Multimodal Management of Post-Stroke Spasticity: A Proof-of-Concept Case.

Related Experiment Videos

Nerve biopsy findings in Niemann-Pick type II (NPC)

Related Concept Videos

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