Hereditary spastic paraparesis with sensory neuropathy

Sarcolemmal defect and subsarcolemmal lesion in a patient with gamma-sarcoglycan deficiency.

Neurology·1998

Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy.

Neurology·1998

Abnormal expression of laminin beta 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy.

Archives of neurology·1997

Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.

Pediatric neurology·1993

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

American journal of human genetics·1988

Gastroesophageal reflux associated with nemaline myopathy of infancy.

Pediatrics·1988

Neonatal Assessment Visual European Grid accuracy in detecting infants born preterm at risk of neurological impairment.

Developmental medicine and child neurology·2026

Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review.

Developmental medicine and child neurology·2026

Diagnostic delay in infants with very early-onset rare and ultra-rare genetic epilepsies.

Developmental medicine and child neurology·2026

Neurodevelopmental and neurological features in children with hypochondroplasia.

Developmental medicine and child neurology·2026

Barriers and facilitators to implementing early intervention for children with non-progressive motor disorders: A systematic review.

Developmental medicine and child neurology·2026

Caregiver-reported quality of life among individuals with neurodevelopmental genetic conditions.

Developmental medicine and child neurology·2026

Ten Minutes of Intraoperative Nerve Stimulation May Improve Outcomes Following End-to-End Nerve Transfer.

The Journal of hand surgery·2026

Breaking the vicious cycle: a bibliometric and visual analysis of the bidirectional relationship between pruritus and negative emotions.

Frontiers in psychiatry·2026

Use of processed nerve allograft to relieve pain and restore function in individuals with painful upper limb neuroma-a case series of five individuals.

Frontiers in surgery·2026

Gut-brain axis dysregulation in Parkinson's disease: Mechanisms linking microbiota to neuroinflammation and α-synuclein pathology.

Journal of pharmaceutical analysis·2026

Nipah virus and the lessons of COVID-19: are we prepared for the next pandemic threat?

Infectious medicine·2026

The Double Blow Phenomenon: Back-To-Back C5 Palsy in Compressive Cervical Myelopathy Surgery: A Case Series.

Journal of orthopaedic case reports·2026

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Hereditary spastic paraparesis with sensory neuropathy

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Sarcolemmal defect and subsarcolemmal lesion in a patient with gamma-sarcoglycan deficiency.

Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy.

Abnormal expression of laminin beta 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy.

Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

Gastroesophageal reflux associated with nemaline myopathy of infancy.

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