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Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency

Swoboda, K. J. et al.

Neurology. VOL 53; NUMBER 6, ; 1999, 1205-1211 -- ADVANSTAR COMMUNICATIONS (pages 1205-1211) -- 1999

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Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

Wattanasirichaigoon, D. Swoboda, K. J. Takada, F. Tong, H.-Q. Lip, V. Iannaccone, S. T. Wallgren-Pettersson, C. Laing, N. G. Beggs, A. H.

Neurology. VOL 59; PART 4, ; 2002, 613-616 -- Lippincott Williams and Wilkins; 1999 (pages 613-616) -- 2002

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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria

Bruno, M. K. et al.

Neurology. VOL 63; NUMB 12, ; 2004, 2280-2287 -- Lippincott Williams and Wilkins; 1999 Part: Part 12; (pages 2280-2287) -- 2004

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NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

Bend, E. G. et al.

Neurology -- Lippincott Williams & Wilkins -- Volume: 87 11; (pages 1131-1137) -- 2016

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Results from a phase 1 study of nusinersen (ISIS-SMN~R~x) in children with spinal muscular atrophy

Chiriboga, C. A. et al.

Neurology -- Lippincott Williams & Wilkins -- Volume: 86 10; (pages 890-897) -- 2016

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by this Author/Contributor:

  1. Swoboda, K. J.
  2. Chiriboga, C. A.
  3. Hallett, M.
  4. Darras, B. T.
  5. Bayrak-Toydemir, P.

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