All individuals with variants in gene DCTN1

25 entries on 1 page. Showing entries 1 - 25.
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00017871 - PubMed: Puls 2003 4-generation family, 12 affecteds (8F, 4M) - no United States - - 0 - - HMN-1 see paper; motor neuron disease, lower 1 12 Johan den Dunnen
00017872 - PubMed: Takahashi 2008 - M ? Japan - - 0 - - ALS-1 age onset 67y progressive muscle atrophy, weakness in all extremities, postural tremor upper extremities; 68y diffuse muscle atrophy, weakness, fasciculation, hyporeflexia all extremities., weakness neck flexion, normal intelligence was normal, no bulbar sign nor pyramidal sign, EMG diffuse active neurogenic changes 1 1 Johan den Dunnen
00017873 - PubMed: Munch 2005 4-generation family, M no Germany - 58y 0 - - ALS-1 see paper 1 2 Johan den Dunnen
00017874 - PubMed: Munch 2005 brother of 16240349-FamPatIII3 M no Germany - >61y 0 - - FTD see paper 1 1 Johan den Dunnen
00017876 - PubMed: Munch 2004 4-generation family, 2 affected brothers, 2 unaffected carriers (mother (deceased 99y), sister (76y)) M no - - - 0 - - ALS-1 see paper 1 4 Johan den Dunnen
00017877 - PubMed: Munch 2004 - F ? Germany - - 0 - - ALS-1 see paper 1 1 Johan den Dunnen
00017878 - PubMed: Munch 2004 patient with affected sister (not screened) F ? Germany - - 0 - - ALS-1 see paper 1 1 Johan den Dunnen
00017879 - PubMed: Farrer 2009 3-generation family, 3 affecteds (2F, M) - ? Turkey - - 0 - - Perry see paper 1 3 Johan den Dunnen
00017880 - PubMed: Farrer 2009 5-generation family, 11 affecteds (2F, 9M) - ? Canada - - 0 - - Perry see paper 1 11 Johan den Dunnen
00017881 - PubMed: Farrer 2009 3-generation family, 7 affecteds (5F, 2M) - ? France - - 0 - - Perry see paper 1 7 Johan den Dunnen
00017882 - PubMed: Farrer 2009 3-generation family, 3 affecteds (2F, M) - ? United States Hawaii - 0 - - Perry see paper 1 3 Johan den Dunnen
00017883 - PubMed: Farrer 2009 3-generation family, 6 affecteds (3F, 3M) - ? United Kingdom (Great Britain) - - 0 - - Perry see paper 1 6 Johan den Dunnen
00017884 - PubMed: Farrer 2009 3-generation family, 8 affecteds (F, 7M) - ? Japan - - 0 - - Perry see paper 1 8 Johan den Dunnen
00017885 - PubMed: Farrer 2009 4-generation family, 5 affecteds (2F, 3M) - ? United States - - 0 - - Perry see paper 2 5 Johan den Dunnen
00017886 - PubMed: Farrer 2009 3-generation family, 4 affecteds (3F, M) - ? Japan - - 0 - - Perry see paper 2 4 Johan den Dunnen
00017887 - PubMed: Farrer 2009 - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00017888 - PubMed: Farrer 2009 - ? ? Ireland - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00017889 - PubMed: Farrer 2009 - ? ? United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00017890 - - - ? ? Germany - - 0 - - PD - 1 1 Johan den Dunnen
00035582 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035583 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035584 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035585 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00299985 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - HMN - 1 1 Johan den Dunnen
00314905 Trio98 PubMed: Zhu 2015 - M - United States - - 0 - - ? Progressive neuromuscular disorder, with progressive muscle wasting, weakness, fasciculations. 1 1 Johan den Dunnen
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