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23. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Scoto M; Rossor AM; Harms MB; Cirak S; Calissano M; Robb S; Manzur AY; MartÃnez Arroyo A; Rodriguez Sanz A; Mansour S; Fallon P; Hadjikoumi I; Klein A; Yang M; De Visser M; Overweg-Plandsoen WC; Baas F; Taylor JP; Benatar M; Connolly AM; Al-Lozi MT; Nixon J; de Goede CG; Foley AR; Mcwilliam C; Pitt M; Sewry C; Phadke R; Hafezparast M; Chong WK; Mercuri E; Baloh RH; Reilly MM; Muntoni F Neurology; 2015 Feb; 84(7):668-79. PubMed ID: 25609763 [TBL] [Abstract][Full Text] [Related]
24. Spinal Muscular Atrophy Type 3 Showing a Specific Pattern of Selective Vulnerability on Muscle Ultrasound. Nakamura R; Kitamura A; Tsukamoto T; Otowa Y; Okamoto N; Ogawa N; Yamakawa I; Kim H; Sanada M; Urushitani M Intern Med; 2021 Jun; 60(12):1935-1939. PubMed ID: 33456041 [TBL] [Abstract][Full Text] [Related]
25. Quantification of disease progression in spinal muscular atrophy with muscle MRI-a pilot study. Otto LAM; Froeling M; van Eijk RPA; Asselman FL; Wadman R; Cuppen I; Hendrikse J; van der Pol WL NMR Biomed; 2021 Apr; 34(4):e4473. PubMed ID: 33480130 [TBL] [Abstract][Full Text] [Related]
28. [Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy]. Spiegel R; Hagmann A; Boltshauser E; Moser H Schweiz Med Wochenschr; 1996 May; 126(21):907-14. PubMed ID: 8693311 [TBL] [Abstract][Full Text] [Related]
29. [Contribution of the electromyogram in the diagnosis of infantile spinal muscular atrophy in the neonatal period]. Renault F; Chartier JP; Harpey JP Arch Pediatr; 1996 Apr; 3(4):319-23. PubMed ID: 8762951 [TBL] [Abstract][Full Text] [Related]
31. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. Zerres K; Rudnik-Schöneborn S; Forrest E; Lusakowska A; Borkowska J; Hausmanowa-Petrusewicz I J Neurol Sci; 1997 Feb; 146(1):67-72. PubMed ID: 9077498 [TBL] [Abstract][Full Text] [Related]
32. Heterotopic neurons in amyotrophic lateral sclerosis. Martin JE; Mather K; Swash M Neurology; 1993 Jul; 43(7):1420-2. PubMed ID: 8327148 [TBL] [Abstract][Full Text] [Related]
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34. Controversy over Werdnig-Hoffmann disease and multiple system atrophy. Chou SM Curr Opin Neurol; 1993 Dec; 6(6):861-4. PubMed ID: 8293160 [No Abstract] [Full Text] [Related]
35. Muscular MRI and magnetic resonance neurography in spinal muscular atrophy. Huang Y; Chen T; Hu Y; Li Z Clin Radiol; 2024 Sep; 79(9):673-680. PubMed ID: 38945793 [TBL] [Abstract][Full Text] [Related]
36. [Magnetic resonance imaging of dystrophinopathy that mimics adductor enthesopathy]. Zheng YM; Li WZ; Wang ZX; Zhang W; Lv H; Xiao JX; Yuan Y Beijing Da Xue Xue Bao Yi Xue Ban; 2016 Oct; 48(5):846-849. PubMed ID: 27752168 [TBL] [Abstract][Full Text] [Related]
37. Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations. Liu XY; Jin M; Wang ZQ; Wang DN; He JJ; Lin MT; Fu HX; Wang N Chin Med J (Engl); 2016 Jun; 129(12):1425-31. PubMed ID: 27270537 [TBL] [Abstract][Full Text] [Related]
38. [Enzyme-and immuno-histochemistry of muscle biopsies in severe infantile spinal muscular atrophy]. Chen BF Zhonghua Bing Li Xue Za Zhi; 1991 Mar; 20(1):38-40. PubMed ID: 2065375 [TBL] [Abstract][Full Text] [Related]
39. Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease). Kang PB; Krishnamoorthy KS; Jones RM; Shapiro FD; Darras BT Neuromuscul Disord; 2006 Aug; 16(8):492-4. PubMed ID: 16797181 [TBL] [Abstract][Full Text] [Related]
40. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Bertini E; Gadisseux JL; Palmieri G; Ricci E; Di Capua M; Ferriere G; Lyon G Am J Med Genet; 1989 Jul; 33(3):328-35. PubMed ID: 2801766 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]