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Results 1 - 10 of 230 for neurology
  1. Aromatic l-amino acid decarboxylase deficiency 
    ... features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010 Jul 6;75(1):64-71. doi: ... WNL.0b013e3181e620ae. Epub 2010 May 26. Erratum In: Neurology. 2010 Aug 10;75(6):576. Dosage error ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  2. Episodic ataxia 
    ... mapping for a large pedigree with episodic ataxia. Neurology. 2005 Jul 12;65(1):156-8. doi: ... RW. Clinical spectrum of episodic ataxia type 2. Neurology. 2004 Jan 13;62(1):17-22. doi: ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - Genetics
  3. Dementia with Lewy bodies 
    ... of Lewy body pathology independent of Alzheimer pathology. Neurology. 2018 Sep 18;91(12):e1182-e1195. doi: ... the diagnostic classification of dementia with Lewy bodies. Neurology. 2011 Aug 30;77(9):875-82. doi: ...
    https://medlineplus.gov/genetics/condition/dementia-with-lewy-bodies - Genetics
  4. GBA gene 
    ... gene are associated with early-onset Parkinson disease. Neurology. 2007 Sep 18;69(12):1270-7. doi: ... an important risk factor for Lewy body disorders. Neurology. 2006 Sep 12;67(5):908-10. doi: ...
    https://medlineplus.gov/genetics/gene/gba - Genetics
  5. Horizontal gaze palsy with progressive scoliosis 
    ... palsy and progressive scoliosis with mutations in ROBO3. Neurology. 2005 Apr 12;64(7):1196-203. doi: ... with progressive scoliosis maps to chromosome 11q23-25. Neurology. 2002 Aug 13;59(3):432-5. doi: ...
    https://medlineplus.gov/...tal-gaze-palsy-with-progressive-scoliosis - Genetics
  6. Autosomal dominant epilepsy with auditory features 
    ... in autosomal dominant partial epilepsy with auditory features. Neurology. 2004 Apr 13;62(7):1120-6. doi: ... in autosomal dominant partial epilepsy with auditory features. Neurology. 2008 Aug 19;71(8):567-71. doi: ...
    https://medlineplus.gov/...-dominant-epilepsy-with-auditory-features - Genetics
  7. CACNA1A gene 
    ... genes in 39 sporadic patients with hemiplegic migraine. Neurology. 2007 Dec 4;69(23):2170-6. doi: ... are frequent in early-onset sporadic hemiplegic migraine. Neurology. 2010 Sep 14;75(11):967-72. doi: ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  8. SLC12A6 gene 
    ... KCC3 in non-French Canadian HMSN/ACC families. Neurology. 2007 Sep 25;69(13):1350-5. doi: ... of the KCC3 gene associated with Andermann syndrome. Neurology. 2006 Apr 11;66(7):1044-8. doi: ...
    https://medlineplus.gov/genetics/gene/slc12a6 - Genetics
  9. GNE myopathy 
    ... inclusion body myopathy: the Middle Eastern genetic cluster. Neurology. 2003 May 13;60(9):1519-23. doi: ... vacuoles is allelic to hereditary inclusion body myopathy. Neurology. 2002 Dec 10;59(11):1689-93. doi: ...
    https://medlineplus.gov/genetics/condition/gne-myopathy - Genetics
  10. Neuromyelitis optica 
    ... to water channel extracellular domain in neuromyelitis optica. Neurology. 2007 Dec 11;69(24):2221-31. doi: ... GT, Adoni T, Weinshenker BG. Familial neuromyelitis optica. Neurology. 2010 Jul 27;75(4):310-5. doi: ...
    https://medlineplus.gov/genetics/condition/neuromyelitis-optica - Genetics
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