Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Richter, A.; Morgan, K.; Bouchard, J.P.; Poirier, J.; Mercier, J.; Gosselin, F.; Melançon, S.B.
Advances in Neurology 61: 97-103
1993
ISSN/ISBN: 0091-3952 PMID: 8421971 Document Number: 422142
Document emailed within 1 workday
Related Documents
Dadali, E.L.; Illarioshkin, S.N.; Markova, E.D.; Ivanova-Smolenskaia, I.A. 1992: Clinical polymorphism and genetic heterogeneity of hereditary spastic ataxia Zhurnal Nevropatologii i Psikhiatrii Imeni S.S. Korsakova 92(4): 10-13Wakil, S.M.; Murad, H.N.; Baz, B.M.; Hagos, S.T.; Al-Amr, R.A.; Al-Yamani, S.A.; Al-Wadaee, S.M.; Meyer, B.F.; Bohlega, S.A. 2012: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis Neurosciences 17(1): 48-52
Dimitrakov, J.D.; Dimitrakov, D.I. 2003: Autosomal recessive polycystic kidney disease. Clinical and genetic profile. (Review and a case report) Folia Medica 45(1): 5-7
Best, R.G.; Mathis, J.N.; Shah, K.; Golden, R. 1994: Cystic fibrosis (CF) is an autosomal recessive genetic disease Journal of the South Carolina Medical Association 90(2): 78-79
Espinós-Armero, C.; González-Cabo, P.; Palau-Martínez, F. 2005: Autosomal recessive cerebellar ataxias. their classification, genetic features and pathophysiology Revista de Neurologia 41(7): 409-422
Chaabani, H.; Ben Arab, S.; Chebbi, K. 1995: Genetic heterogeneity study of non-syndromic autosomal recessive sensorineural deafness within the Tunisian population Annales de Genetique 38(3): 158-161
Ginter, E.K.; Mamedova, R.A.; El'chinova, G.I.; Brusintseva, O.V. 1994: Genetic structure of populations and characteristics of geographic distribution of autosomal recessive diseases in the Kirov region Genetika 30(1): 107-111
Von Fellenberg, J.; Paternotte, C.; Prud'homme, J.F.; Weissenbach, J.; Hazan, J.; Burgunder, J.M. 1998: Clinical and molecular genetic analysis of 4 Swiss families with the pure form of hereditary spastic spinal paralysis Schweizerische Medizinische Wochenschrift 128(26): 1043-1050
Kolodny, E.H.; Boustany, R.M.; Rouleau, G.A.; Growden, J.H.; Martin, J.B. 1989: Familial spastic paraplegia: clinical observations and genetic studies Progress in Clinical and Biological Research 306: 205-211
Knoblauch, H.; Urban, M.; Tinschert, S. 1999: Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters Genetic Counseling 10(3): 315-320
Farah, W.I.; Aminuddin, B.S.; Ruszymah, B.H.I. 2006: Linkage and association studies in a Malaysian family with autosomal recessive non-syndromic hearing loss Malaysian Journal of Pathology 28(1): 23-33
Pelletier, E.; Mostajir, B.; Roy, S.; Gosselin, M.; Gratton, Y.; Chanut, J.-Pierre.; Belzile, C.; Demers, S.; Thibault, D. 1999: The flash flood of July 1996 in the Saguenay region Quebec 1 Impact on the water column of Ha Ha Bay and Saguenay Fjord Crue eclair de juillet 1996 dans la region du Saguenay Quebec 1 Impacts sur la colonne deau de la baie des Ha Ha et du fjord du Saguenay Canadian Journal of Fisheries and Aquatic Sciences 561(1): 2120-2135
Serlenga, L.; Trizio, M.; Pozio, G.; Oteri, G.; Caldarazzo, M. 1987: Recessive hereditary ataxia with early onset. Clinical study of 27 cases Rivista di Neurologia 57(5): 285-289
Mizusawa, H.; Kobayashi, F.; Nakanishi, T. 1987: Distribution of skeletal muscle involvement in autosomal recessive distal muscular dystrophy: a clinical and computed tomographic study Rinsho Shinkeigaku 27(2): 177-184
Tóth, T.; Nagy, B. 1997: Molecular genetic study of type i autosomal dominant polycystic kidney disease Orvosi Hetilap 138(41): 2638
Handa, V.; Mital, A.; Gupta, M.; Goyle, S. 2001: Deficiency of the 50 kDa dystrophin-associated-glycoprotein (adhalin) in an Indian autosomal recessive limb girdle muscular dystrophy patient : immunochemical analysis and clinical aspects Neurology India 49(1): 19-24
Nishizawa, M. 1999: Clinical and molecular genetic studies of Machado-Joseph disease Nihon Rinsho. Japanese Journal of Clinical Medicine 57(4): 826-831
Marcaud, V.; Laplanche, J.L.; Defontaines, B.; Beaudry, P.; Vital, A.; Vincent, D.; Sazdovitch, V.; Hauw, J.J.; Latinville, D.; Jung, P.; Vecchierini, F.; Degos, C.F. 2003: Usefulness of molecular genetic analysis of the PRNP gene in patients with cerebellar ataxia: a new case of fatal familial insomnia Revue Neurologique (Paris) 159(2): 199-202
Gatti, R.A.; Davis, R.C.; Weeks, D.E.; Jaspers, N.J.; Sparkes, R.S.; Lange, K. 1987: Genetic linkage studies of ataxia-telangiectasia: phenotypic blood markers Disease Markers 5(4): 207-213
Ohnishi, A. 1995: Clinical, pathologic and molecular genetic studies of patients with hereditary motor and sensory neuropathy (HMSN) Rinsho Shinkeigaku 35(12): 1438-1440