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LUPSKI, JAMES
One or more keywords matched the following items that are connected to LUPSKI, JAMES
Item TypeName
Academic Article Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1.
Academic Article Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.
Academic Article Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
Academic Article Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.
Academic Article Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation.
Academic Article Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.
Academic Article Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review).
Academic Article Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation.
Academic Article Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review).
Academic Article Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.
Academic Article Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.
Concept Polyneuropathies
Academic Article Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Academic Article The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Academic Article A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
Search Criteria
  • Polyneuropathies