The Finnish disease heritage III: The individual diseases

Human Genetics

Volumn 112, Issue 5-6, 2003, Pages 470-526

  Norio, Reijo ^a  

^a Vaestoliitto   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ACICLOVIR; ALPHA TOCOPHEROL; AMINO ACID; ANTICONVULSIVE AGENT; ANTIOXIDANT; ANTIVIRUS AGENT; APOFERRITIN; CARBAMAZEPINE; CITRULLINE; CLONAZEPAM; CORTICOSTEROID DERIVATIVE; CYANOCOBALAMIN; FUNGICIDE; GLYCINE; HORMONE; IMMUNOSUPPRESSIVE AGENT; KETOCONAZOLE; LYSINE; PALMITOYL PROTEIN THIOESTERASE; PIRACETAM; POTASSIUM CHLORIDE; PYRIDOXINE; RIBOFLAVIN; SELENIUM; SEX HORMONE; SODIUM CHLORIDE; SPHINGOLIPID ACTIVATOR PROTEIN; UNINDEXED DRUG; VALPROIC ACID; ZONISAMIDE;

APLASTIC ANEMIA; ASPARTYLGLYCOSAMINURIA; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; BLOOD TRANSFUSION; CANDIDIASIS; CARTILAGE HAIR HYPOPLASIA; CHOROIDEREMIA; CLINICAL FEATURE; COHEN SYNDROME; CONGENITAL CHLORIDE DIARRHEA; CONGENITAL LACTASE DEFICIENCY; CONGENITAL NEPHROTIC SYNDROME; CORNEA PLANA CONGENITA; CORNEA TRANSPLANTATION; DIASTROPHIC DYSPLASIA; DIET THERAPY; DRUG EFFICACY; EPILEPSY; EXERCISE; FINLAND; FOLLICLE STIMULATING HORMONE RESISTANT OVARY; GENE THERAPY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DISORDER; GRACILE SYNDROME; HERPES ZOSTER; HERVA DISEASE; HETEROZYGOTE; HORMONAL THERAPY; HORMONE DEFICIENCY; HUMAN; HYDROLETHALUS SYNDROME; HYPERGLYCINEMIA; HYPERORNITHEMIA WITH GYRATE ATROPHY OF THE CHOROID AND RETINA; INCIDENCE; IOSCA SYNDROME; KIDNEY TRANSPLANTATION; LYSINURIC PROTEIN INTOLERANCE; MECKEL SYNDROME; MEGALOBLASTIC ANEMIA; MERETOJA DISEASE; MOLECULAR GENETICS; MULIBREY NANISM; MUSCLE EYE BRAIN DISEASE; MYOCLONUS EPILEPSY; NEURONAL CEROID LIPOFUSCINOSIS; NEURONAL CEROID LIPOFUSCINOSIS LATE INFANTILE TYPE; NONHUMAN; NORTHERN EPILEPSY; PARENTERAL NUTRITION; PATHOGENESIS; PEHO SYNDROME; PERITONEAL DIALYSIS; PHYSIOTHERAPY; POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA SCLEROSING LEUKOENCEPHALOPATHY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RAPADILINO SYNDROME; RETINOSCHISIS; REVIEW; SELECTIVE MALABSORPTION OF VITAMIN B12; SIALIC ACID STORAGE DISEASE; SPEECH THERAPY; SPIELMEYER SJOGREN DISEASE; TIBIAL MUSCULAR DYSTROPHY; USHER SYNDROME; VISUAL IMPAIRMENT; VUOPALA DISEASE; GENETICS; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; PATHOPHYSIOLOGY;

ABNORMALITIES, MULTIPLE; FINLAND; GENETIC DISEASES, INBORN; MENTAL RETARDATION;

EID: 0038620204     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0877-1     Document Type: Review

References (492)

1. Arvio M (1993) Life with aspartylglucosaminuria. Thesis, University of Helsinki
2. Arvio P, Arvio M (2002) Progressive nature of aspartylglucosaminuria. Acta Paediatr 91:255-257
3. Arvio M, Sauna-Aho O, Peippo M (2001) Bone marrow transplantation for aspartylglucosaminuria: Follow-up study of transplanted and non-transplanted patients. J Pediatr 138:288-290
4. Arvio M, Laiho K, Kauppi M, Peippo M, Leino P, Kautiainen H, Kaipiainen-Seppänen O, Mononen I (2002) Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis. Ann Rheum Dis 61: 180-181
5. Aula P, Autio S, Raivio K, Näntö V (1974) Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts. Humangenetik 25:307-314
6. Aula P, Raivio K, Autio S (1976) Enzymatic diagnosis and carrier detection of aspartylglucosaminuria using blood samples. Pediat Res 10:625-629
7. Autio S (1972) Aspartylglucosaminuria. Analysis of thirty-four patients. J Ment Defic Res Monogr Ser I
8. Dunder U, Kaartinen V, Valtonen P, Väänänen E, Kosma VM, Heisterkamp N, Groffen J, Mononen I (2000) Enzyme replacement therapy in a mouse model of aspartylglycosaminuria. FASEB J 14:361-367
9. Enomaa N, Danos O, Peltonen L, Jalanko A (1995) Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. Hum Gene Ther 6:723-731
10. Haltia M, Palo J, Autio S (1975) Aspartylglucosaminuria: A generalised storage disease. Morphological and histochemical studies. Acta Neuropath (Berl) 31:243-255
11. Ikonen E, Aula P, Grön K, Tollersrud O, Halila R, Manninen T, Syvänen AC, Peltonen L (1991) Spectrum of mutations in aspartylglucosaminuria. Proc Natl Acad Sci USA 88:11222-11226
12. Jalanko A, Tenhunen K, McKinney C, LaMarca M, Rapola J, Autti T, Joensuu R, Manninen T, Sipilä I, Ikonen S, Riekkinen P Jr, Ginns E, Peltonen L (1998) Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet 7:265-272
13. Jenner FA, Pollitt RJ (1967) Large quantities of 2-acetamido-1-(β-L-aspartamido)1,2-dideoxyglucose in the urine of mentally retarded siblings. Biochem J 103:48p-49p
14. Kaartinen V, Mononen I, Voncken JW, Noronkoski T, Gonzales-Gomez I, Heisterkamp N, Groffen J (1996) A mouse model for the human lysosomal disease aspartylglycosaminuria. Nat Med 2:1375-1378
15. Mononen I, Aronson NN Jr (1997) Lysosomal Storage Disease: Aspartylglycosaminuria. Springer, Heidelberg
16. Morris C, Heisterkamp N, Groffen J, Williams JC, Mononen I (1992) Chromosomal localization of the human glycoasparaginase gene to 4q32-q33. Hum Genet 88:295-297
17. Palo J (1967) Prevalence of phenylketonuria and some other metabolic disorders among mentally retarded patients in Finland. Acta Neurol Scand 43:573-579
18. Peltola M, Kyttälä A, Heinonen O, Rapola J, Paunio T, Revah F, Peltonen L, Jalanko A (1998) Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse. Gene Ther 5:1314-1321
19. Saarela J, Laine M, Oinonen C, Schantz C, Jalanko A, Rouvinen J, Peltonen L (2001) Molecular pathogenesis of a disease: Structural consequences of aspartylglucosaminuria mutations. Hum Mol Genet 10:983-995
20. Syvänen AC, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L (1992) Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland. Genomics 12:590-595
21. Aaltonen J, Björses P (1999) Cloning of the APECED gene provides new insight into human autoimmunity. Ann Med 31:111-116
22. Aaltonen J, Björses P, Sandkuijl L, Perheentupa J, Peltonen L (1994) An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet 8:83-87
23. Ahonen P (1985) Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): Autosomal recessive inheritance. Clin Genet 27:535-542
24. Ahonen P, Myllärniemi S, Kahanpää A, Perheentupa J (1986) Ketokonazole is effective against the chronic mucocutaneous candidosis of autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy (APECED). Acta Med Scand 220:333-339
25. Ahonen P, Myllärniemi S, Sipilä I, Perheetupa J (1990) Clinical variation of autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 322:1829-1836
26. Björses P, Aaltonen J, Vikman A, Perheentupa J, Ben-Zion G, Chiumello G, Dahl N, Heideman P, Hoorwe-Nijman JJG, Mathivon L, Mullis PE, Pohl M, Ritzen M, Romeo G, Shapiro MS, Smith CS, Solyom J, Zlotogora J, Peltonen L (1996) Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet 59:879-886
27. Björses P, Aaltonen J, Horelli-Kuitunen N, Yaspo ML, Peltonen L (1998) Gene defect behind APECED: A new glue to autoimmunity. Hum Mol Genet 7:1547-1553
28. Björses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J,Ulmanen I, Peltonen L (2000) Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy protein. Am J Hum Genet 66: 378-392
29. Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J (2002) AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy phenotype. J Clin Endocrinol Metab 87:2568-2574
30. Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K (2001) APECED mutations in the autoimmune regulator (AIRE) gene. Hum Mutat 18:205-211
31. Kumar PG, Laloraya M, Wang CY, Ruan QG, Davoodi-Semiromi A, Kao KJ, She JX (2001) The autoimmune regulator (AIRE) is a DNA-binding protein. J Biol Chem 276:41357-41364
32. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJE, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N (1997) Positional cloning of the APECED gene. Nat Genet 17:393-398
33. Perheentupa J (2002) APS-I/APECED: The clinical disease and therapy. Endocrinol Metab Clin North Am 31:295-320
34. Pitkänen J, Vähämurto P, Krohn K, Peterson P (2001) Subcellular localization of the autoimmune regulator protein, characterization of nuclear targeting and transcriptional activation domain. J Biol Chem 276:19597-19602
35. Ramsey C, Winqvist O, Puhakka L, Halonen M, Moro A, Kampe O, Eskelin P, Pelto-Huikko M, Peltonen L (2002) Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet 11:397-409
36. Tarkkanen A, Merenmies L (2001) Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Acta Ophthalmol Scand 79:204-207
37. The Finnish-German APECED Consortium (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17: 399-403
38. Thorpe ES Jr, Handley HE (1929) Chronic tetany and chronic mycelial stomatitis in a child aged four and one half years. Am J Dis Child 38:328-338
39. Visakorpi J, Gerber M (1963) Hypoparathyroidism with steatorrhoea and some features of pernicious anaemia in a 5-year-old girl. Ann Paediat Fenn 9:129-137
40. Vogel A, Strassburg CP, Obermayer-Straub P, Brabant G, Manns MP (2002) The genetic background of autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy and its autoimmune disease components. J Mol Med 80:201-211
41. Zlotogora J, Shapiro MS (1992) Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 29:824-826
42. McKusick VA (1964) Metaphyseal dysostosis and thin hair: A "new" recessively inherited syndrome? Lancet I:832-833
43. McKusick VA, Eldridge R, Hostetler JA, Ruangwit U, Egeland JA (1965) Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 116:285-326
44. (1978) in: McKusick V (ed) Medical Genetic Studies of the Amish. Johns Hopkins University Press, Baltimore and London, pp 231-272
45. Mäkitie O (1992) Cartilage-hair hypoplasia in Finland - Epidemiologic and genetic aspects in 107 patients. J Med Genet 29:652-655
46. Mäkitie O, Kaitila I (1993) Cartilage-hair hypoplasia; Clinical manifestations in 108 Finnish patients. Eur J Pediatr 152:211-217
47. Mäkitie O, Sulisalo T, De La Chapelle A, Kaitila I (1995) Syndrome of the month: Cartilage-hair hypoplasia. J Med Genet 32:39-43
48. Mäkitie O, Pukkala E, Teppo L, Kaitila I (1999) Increased incidence of cancer in patients with cartilage-hair hypoplasia. J Pediatr 134:315-318
49. Mäkitie O, Kaitila I, Savilahti E (2000) Deficiency of humoral immunity in cartilage-hair hypoplasia. J Pediatr 137:487-492
50. Mäkitie O, Kaitila I, Rintala R (2001) Hirschsprung disease associated with severe cartilage-hair hypoplasia. J Pediatr 138:929-931
51. Mäkitie O, Tapanainen PJ, Dunkel L, Siimes MA (2001) Impaired spermatogenesis: An unrecognized feature of cartilage-hair hypoplasia. Ann Med 33:201-205
52. Perheentupa J (1972) Kolme periytyvää kasvuhäiriötä (Cartilage-hair hypoplasia, diastrophic nanism, and mulibrey nanism, English summary). Duodecim 88:60-71
53. Ridanpää M, Van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, Van Venrooij H, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, De La Chepelle A (2001) Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 104:195-203
54. Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I (2002) Worldwide mutation spectrum in cartilage hair hypoplasia: Ancient founder origin of the major 70A>G mutation of the untranslated RMRP. Eur J Hum Genet 10:439-447
55. Sulisalo T, Sistonen P, Hästbacka J, Wadelius C, Mäkitie O, De La Chapelle A, Kaitila I (1993) Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet 3:338-341
56. Sulisalo T, Van Den Burgt I, Rimoin DL, Bonaventure J, Sillence D, Campbell JB, Chitayat D, Scott CI, De La Chapelle A, Sistonen P, Kaitila I (1995) Genetic homogeneity of cartilage-hair hypoplasia. Hum Genet 95:157-160
57. Cremers FPM, Van De Pol DJR, Van Kerkhoff LPM, Wieringa B, Ropers HH (1990) Cloning of a gene that is rearranged in patients with choroideremia. Nature 347:674-677
58. Forsiuso H, Eriksson AW (1978) Choroideremia. In: Francois J (ed) 5. Kongress der Europäischen Gesellschaft für Ophthalmologie, Hamburg 5-9 April 1976, Ferdinand Enke Verlag, Stuttgart
59. Futu T, Kääriäinen H, Sankila EM, Norio R (993) Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives. Clin Genet 43:160-165
60. Kärnä J (1986) Choroideremia; A clinical and genetic study of 84 Finnish patients and 126 female carriers. Thesis, University of Oulu
61. Mauthner H (1872) Ein Fall von Chorioideremia. Ber Naturmed Ver Innsbruck 2:191
62. McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM (2002) Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat 20:189-196
63. Nussbaum RL, Lewis RA, Lesko JG, Ferrell R (1985) Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at Xq13-21. Am J Hum Genet 37:473-481
64. Sankila EM, Sistonen P, Cremers FPM, De La Chapelle A (1991) Choroideremia: Linkage analysis with physically mapped close DNA-markers. Hum Genet 87:348-352
65. Sankila EM, Tolvanen R, Van Den Hurk JAJM, Cremers FPM, De La Chapelle A (1992) Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nat Genet 1:109-113
66. Seabra MC, Brown MS, Goldstein JL (1993) Retinal degeneration in choroideremia: Deficiency of Rab geranylgeranyl transferase. Science 259:377-381
67. Takki K (1974) Differential diagnosis between the primary total choroidal vascular atrophies. Brit J Ophthalmol 58:24-35
68. Chandler KE, Clayton-Smith J (2002) Does a Jewish type of Cohen syndrome truly exist? Am J Med Genet 111:453-454
69. Cohen MM Jr, Hall B, Smith D, Graham B, Lampert K (1973) A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies. J Pediatr 83:280-284
70. Kivitie-Kallio S, Norio R (2001) Cohen syndrome: Essential features, natural history, and heterogeneity. Am J Med Genet 102: 125-135
71. Kivitie-Kallio S, Rajantie J, Juvonen E, Norio R (1997) Granulocytopenia in Cohen syndrome. Br J Haematol 98:308-311
72. Kivitie-Kallio S, Autti T, Salonen O, Norio R (1998) MRI of the brain in the Cohen syndrome: A relatively large corpus callosum in patients with mental retardation and microcephaly. Neuropediatrics 29:298-301
73. Kivitie-Kallio S, Larsen A, Kajasto K, Norio R (1999) Neurological and psychological findings in patients with Cohen syndrome: A study of 18 patients aged 11 months to 57 years. Neuropediatrics 30:181-189
74. Kivitie-Kallio S, Summanen P, Raitta C, Norio R (2000) Ophthalmologic findings in Cohen syndrome; A long-term follow-up. Ophthalmology 107:1737-1745
75. Kolehmainen J, Norio R, Kivitie-Kallio S, Tahvanainen E, De La Chapelle A, Lehesjoki AE (1997) Refined mapping of the Cohen syndrome by gene linkage disequilibrium. Eur J Hum Genet 5:206-213
76. Norio R, Raitta C, Lindahl E (1984) Further delineation of the Cohen syndrome; Report on chorioretinal dystrophy, leukopenia and consanguinity. Clin Genet 25:1-14
77. Summanen P, Kivitie-Kallio S, Norio R, Raitta C, Kivelä T (2002) Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22. Invest Ophthalmol Vis Sci 43:1686-1693
78. Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, De La Chapelle A (1994) Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 7:201-204
79. Darrow DC (1945) Congenital alkalosis with diarrhea. J Pediatr 26:519-532
80. Gamble JL, Fahey KR, Appleton J, MacLachlan E (1945) Congenital alkalosis with diarrhea. J Pediatr 26:509-518
81. Haila S, Saarialho-Kere U, Karjalainen-Lindsberg ML, Lohi H, Airola K, Holmberg C, Hästbacka J, Kere J, Höglund P (2000) The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. Histochem Cell Biol 113:279-286
82. Holmberg C (1986) Congenital chloride diarrhoea. Clin Gastroenterol 15:583-602
83. Holmberg C, Perheentupa J, Launiala K, Hallman N (1977) Congenital chloride diarrhea. A clinical analysis of 21 Finnish patients. Arch Dis Child 52:255-267
84. Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, De La Chapelle A, Kere J (1996) Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet 14:316-319
85. Höglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Al Sanie A, Al-Ghanim M, Holmberg C, De La Chapelle A, Kere J (1998) Genetic background of congenital chloride diarrhea in two high frequency populations: Poland and Arabic countries. Am J Hum Genet 63:760-768
86. Höglund P, Haila S, Gustavson KH, Taipale M, Hannula K, Popinska K, Holmberg C, Socha J, De La Chapelle A, Kere J (1998) Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat 11:321-327
87. Höglund P, Holmberg C, Sherman P, Kere J (2001) Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: Implications for early diagnosis and treatment. Gut 48:724-727
88. Höglund P, Sormaala M, Haila S, Socha J, Rajaram U, Scheurlen W, Sinaasappel M, De Jonge H, Holmberg C, Yoshikawa H, Kere J (2001) Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. Hum Mutat 18:233-242
89. Kagalwalla AF (1994) Congenital chloride diarrhea; A study in Arab children. J Clin Gastroenterol 19:36-40
90. Kere J, Sistonen P, Holmberg C, De La Chapelle A (1993) The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. Proc Natl Acad Sci USA 90:10686-10689
91. Kirkinen P, Jouppila P (1984) Prenatal ultrasonic findings in congenital chloride diarrhoea. Prenat Diagn 4:457-461
92. Lubani MM, Doudin KI, Sharda DC, Shaltout AA, Al-Shab TS, Abdul Al YK, Said MA, Salhi MM, Ahmed SA (1989) Congenital chloride diarrhoea in Kuwaiti children. Eur J Pediatr 148:333-336
93. Norio R, Perheentupa J, Launiala K, Hallman N (1971) Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. Clin Genet 2:182-192
94. Perheentupa J, Eklund J, Kojo N (1965) Familial chloride diarrhea ("congenital alkalosis with diarrhea"). Acta Paediat Scand Suppl 159:119-120
95. Tomaszewski L, Kulesza E, Socha J (1987) Congenital chloride diarrhoea in Poland. Materia Medica Polona 64:271-277
96. Holzel A, Schwarz V, Sutcliffe KW (1959) Defective lactose absorption causing malnutrition in infancy. Lancet 1:1126-1128
97. Järvelä I, Sabri Enattah N, Kokkonen J, Varilo T, Savilahti E, Peltonen L (1998) Assignment of the locus for congenital lactose deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin in hydrolase gene. Am J Hum Genet 63:1078-1085
98. Launiala K, Kuitunen P, Visakorpi JK (1966) Disaccharidases and histology of duodenal mucosa in congenital lactose malabsorption. Acta Paediatr Scand 55:257-263
99. Saarela T, Similä S, Koivisto M (1995) Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency. J Pediatr 127:920-923
100. Savilahti E, Launiala K, Kuitunen P (1983) Congenital lactase deficiency; A clinical study on 16 patients. Arch Dis Childh 58:246-252
101. Beltcheva O, Martin P, Lenkkeri U, Tryggvason K (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 17:368-373
102. Gautier P, Miville D (1942) Syndrome de néphrose lipóidique congénitale. Rev Med Suisse Romande 62:740-747
103. Hallman N, Hjelt L, Ahvenainen EK (1956) Nephrotic syndrome in newborn and young infants. Ann Paediatr Fenn 2:227-241
104. Haltia A, Solin ML, Muramatsu T, Jalanko H, Holmberg C, Miettinen A, Holthöfder H (1996) Mechanisms of proteinuria: Vascular permeability factor in congenital nephrotic syndrome of the Finnish type. Pediatr Res 40:652-657
105. Holmberg C, Antikainen M, Rönnholm K, Ala-Houhala M, Jalanko H (1995) Management of the congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 9:87-93
106. Holmberg C, Jalanko H, Tryggvason K, Rapola J (1999) Congenital nephrotic syndrome. In: Barratt TM, Avner ET, Harmon WE (eds) Pediatric Nephrology, 4th edn. Lippincott Williams & Wilkins, Baltimore, pp 765-777
107. Huttunen NP (1976) Congenital nephrotic syndrome of Finnish type. A study of 75 cases. Arch Dis Childh 51:344-348
108. Jalanko H, Kääriäinen H, Norio R (2002) Nephrotic disorders. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds) Emery & Rimoin's Principles and Practice of Medical Genetics, 4th edn. Churchill Livingstone, London New York, pp 1708-1719
109. Kestilä M, Männikkö M, Holmberg C, Gyapay G, Weissenbach J, Savolainen ER, Peltonen L, Tryggvason K (1994) Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet 54:757-764
110. Kestilä M, Lenkkeri U, Männikkö M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K (1998) Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome. Molec Cell 1:575-582
111. Laine J, Jalanko H, Holthöfer H, Krogerus L, Rapola J, Von Willebrand E, Lautenschlager I, Salmela K, Holmberg C (1993) Post-transplantational nephrosis in congenital nephrotic syndrome of Finnish type. Kidney Int 44:867-874
112. Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet P, Antignac C, Kashtan CE, Holmberg C, Olsen A, Kestilä M, Tryggvason K (1999) Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 64:51-61
113. Liu L, Done SC, Knoshnoodi J, Bertorello A, Wartiovaara J, Berggren PO, Tryggvason K (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: Insight into the mechanism of congenital nephrotic syndrome. Hum Mol Genet 10:2637-2644
114. Männikkö M, Kestilä M, Holmberg C, Norio R, Ryynänen M, Olsen A, Peltonen L, Tryggvason K (1995) Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet 57:1377-1383
115. Norio R (1966) Heredity in the congenital nephrotic syndrome; A genetic study of 57 Finnish families with a review of reported cases. Ann Paediatr Fenn Suppl 27
116. Patrakka J, Kestilä M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U, Männikkö M, Visapää I, Holmberg C, Rapola J, Tryggvason K, Jalanko H (2000) Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients. Kidney Int 58:972-980
117. Patrakka J, Martin P, Salonen R, Ruotsalainen V, Kestilä M, Männikkö M, Ryynänen M, Rapola J, Holmberg C, Tryggvason K, Jalanko H (2002) Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Lancet 359:1575-1577
118. Patrakka J, Ruotsalainen V, Reponen P, Qvist E, Laine J, Holmberg C, Tryggvason K, Jalanko H (2002) Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: Role of nephrin. Transplantation 73:394-403
119. Rapola J, Huttunen NP, Hallman N (1992) Congenital and infantile nephrotic syndrome. In: Edelmann CM Jr (ed) Pediatric Kidney Disease, 2nd edn. Little Brown, Boston, pp 1291-1305
120. Ruotsalainen V, Patrakka J, Tissari P, Hess M, Kestilä M, Holmberg C, Salonen R, Heikinheimo M, Wartiovaara J, Tryggvason K, Jalanko H (2000) Role of nephrin in cell junction formation in human nephrogenesis. Am J Pathol 157:1905-1916
121. Eriksson A, Lehmann W, Forsius H (1973) Congenital cornea plana in Finland. Clin Genet 4:301-310
122. Forsius H (1957) Cornea plana and embryotoxon corneae posterius. Acta Ophthalmol 35:65
123. Forsius H (1961) Studien über Cornea plana congenita bei 19 Kranken in 9 Familien. Acta Ophthalmol 39:203-221
124. Forsius H, Damsten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E (1998) Autosomal recessive cornea plana; A clinical and genetic study of 78 cases in Finland. Acta Ophthalmol Scand 76:196-203
125. Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, De La Chapelle A (2000) Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet 25:91-95
126. Rübel E (1912) Kongenitale familiäre Flachheit der Kornea (Cornea plana). Klin Monatsbl Augenheilk 50:427-433
127. Sigler-Villanueva A, Tahvanainen E, Lindh S, Dieguez-Lucena J, Forsius H (1997) Autosomal dominant cornea plana: Clinical findings in a Cuban family and a review of the literature. Ophthalmol Genet 18:55-62
128. Tahvanainen E, Forsius H, Karila E, Ranta S, Eerola M, Weissenbach J, Sistonen P, De La Chapelle A (1995) Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics 26:290-293
129. Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, De La Chapelle A (1996) The genetics of cornea plana congenita. J Med Genet 33:116-119
130. Tahvanainen E, Villanueva AS, Forsius H, Salo P, De La Chapelle A (1996) Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. Genome Res 6:249-254
131. Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW (2000) Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization. Cytogenet Cell Genet 88:244-245
132. Vesaluoma MH, Sankila EM, Gallar J, Muller LJ, Petroll WM, Moilanen JA, Forsius H, Tervo TM (2000) Autosomal recessive cornea plana: In vivo corneal morphology and corneal sensitivity. Invest Ophthalmol Vis Sci 41:2120-2126
133. Czarny-Ratajzak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Krolewski J, Latos-Bielenska A, Ala-Kokko L (2001) A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity. Am J Hum Genet 69:969-980
134. Haila S, Hästbacka J, Böhling T, Karjalainen-Lindsberg ML, Kere J, Saarialho-Kere U (2001) SLC26A2 (Diastrophic dysplasia sulphate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. J Histochem Cytochem 49:973-982
135. Horton WA, Rimoin DL, Lachman RS, Skovby F, Hollister DW, Spranger J, Scott CI, Hall JG (1978) The phenotypic variability of diastrophic dysplasia. J Pediatr 93:609-613
136. Hästbacka J, Kaitila I, Sistonen P, De La Chapelle A (1990) Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. Proc Natl Acad Sci USA 87:8056-8059
137. Hästbacka J, De La Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland. Nat Genet 2:204-211
138. Hästbacka J, De La Chapelle A, Mahtani M, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler A, Kaitila I, Lander ES (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087
139. Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES (1996) Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet 58:255-262
140. Hästbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, De La Chapelle A, Lander ES (1999) Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet 7:664-670
141. Karniski LP (2001) Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: Correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet 10:1485-1490
142. Lamy M, Maroteaux P (1960) Le nanisme diastrophique. Presse Méd 68:1977-1980
143. Lapunzina P, Arberas C, Del Carmen Fernandez M, Tello AM (1998) Diastrophic dysplasia diagnosed in a case published 100 years ago. Am J Med Genet 77:334-336
144. Mäkitie O, Kaitila I (1997) Growth in diastrophic dysplasia. J Pediatr 130:641-646
145. Peltonen J, Vaara P, Marttinen E, Poussa M, Ryöppy S (1999) Knee joint in diastrophic dysplasia. A clinical and radiographical study. J Bone Joint Surg (Br) 81:625-631
146. Perheentupa J (1972) Kolme periytyvää kasvuhäiriötä (Cartilage-hair hypoplasia, diastrophic nanism, mulibrey nanism; English summary) Duodecim 88:60-71
147. Poussa M, Merikanto J, Ryöppy S, Marttinen E, Kaitila I (1991) The spine in diastrophic dysplasia. Spine 16:881-887
148. Remes V, Poussa M, Peltonen J (2001) Scoliosis in patients with diastrophic dysplasia: A new classification. Spine 26:1689-1697
149. Remes V, Helenius I, Peltonen J, Poussa M, Sovijärvi A (2002) Lung function in diastrophic dysplasia. Pediatr Pulmonol 33: 277-282
150. Remes VM, Marttinen EJ, Poussa MS, Helenius IJ, Peltonen JI (2002) Cervical spine in patients with diastrophic dysplasia - Radiographic findings in 122 patients. Pediatr Radiol 32:621-628
151. Remes V, Tervahartiala P, Helenius I, Peltonen J (2002) Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia. J Pediatr Orthop 22:212-216
152. Rintala A, Marttinen E, Rantala SL, Kaitila I (1986) Cleft palate in diastrophic dysplasia; Morphology, results of treatment and complications. Scand J Plast Reconstr Surg 20:45-49
153. Ryöppy S, Poussa M, Merikanto J, Marttinen E, Kaitila I (1990) Deformities of the lower extremities in diastrophic dysplasia. Acta Orthop Scand 61 Supp 237:49
154. Ryöppy S, Poussa M, Merikanto J, Marttinen E, Kaitila IO (1992) Foot deformities in diastrophic dysplasia; An analysis of 102 patients. J Bone Joint Surg (Br) 74:441-444
155. Vaara P, Peltonen J, Poussa M, Merikanto J, Nurminen M, Kaitila I, Ryöppy S (1998) Development of the hip in diastrophic dysplasia. J Bone Joint Surg (Br) 80:315-320
156. Vaara P, Sintonen H, Peltonen J, Hokkanen H, Poussa M, Ryöppy S (1999) Health-related quality of life in patients with diastrophic dysplasia. Scand J Public Health 27:38-42
157. Walker BA, Scott CI, Hall JG, Murdoch JL, McKusick VA (1972) Diastrophic dwarfism. Medicine 51:41-59
158. Aittomäki K (1994) The genetics of XX gonadal dysgenesis. Am J Hum Genet 54:844-851
159. Aittomäki K, Dieguez Lucena JL, Pakarinen P, Sistonen P, Tapaninen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, De La Chapelle A (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82:959-968
160. Aittomäki K, Herva R, Stenman UH, Juntunen K, Ylöstalo P, Hovatta O, De La Chapelle (1996) Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metabol 81:3722-3726
161. Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomäki K (2002) A novel mutation in the follicle-stimulating hormone receptor inhibing signal transduction and causing primary ovarian failure. J Clin Endocrinol Metabol 87:1151-1155
162. Rannikko A, Pakarinen P, Manna P, Beau I, Milrom E, Misrahi M, Aittomäki K, Huhtaniemi I (2002) Functional characterization of the human follicle-stimulating hormone receptor with inactivating Ala189Val mutation. Molec Human Reprod 4:311-317
163. Simpson JL, Christakos AC, Horwith M, Silverman FS (1971) Gonadal dysgenesis in individuals with apparently normal chromosomal complements: Tabulation of cases and compilation of genetic data. Birth Defects Original Article Series Vol 7 Part X:215-228
164. Vaskivuo TE, Aittomäki K, Anttoneno M, Ruokonen A, Herva R, Osawa Y, Heikinheimo M, Huhtaniemi I, Tapanainen JS (2002) Effects of follicle-stimulating hormone (FSH) and human chorionic gonadotropin in individuals with an inactivating mutation of the FSH receptor. Fertil Steril 78:108-113
165. Fellman V, Rapola J, Pihko H, Varilo T, Raivio K (1998) Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver hemosiderosis, and aminoaciduria. Lancet 351:490-493
166. Fellman V, Van Bonsdorff L, Parkkinen J (2000) Exogenous apotransferrin and exchange transfusions in hereditary iron overload disease. Pediatrics 105:398-401
167. Fellman V, Visapää I, Vujic M, Wennerholm UB, Peltonen L (2002) Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. Acta Obst Gynecol Scand 81:398-402
168. Norio R, Nevanlinna HR, Perheentupa J (1973) Hereditary diseases in Finland; Rare flora in rare soil. Ann Clin Res 5:109-141
169. Rapola J, Heikkilä P, Fellman V (2002) Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). Pediatr Pathol Mol Med 21: 183-193
170. Visapää I, Fellman V, Varilo T, Palotie A, Raivio KO, Peltonen L (1998) Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37. Am J Hum Genet 63:1396-1403
171. Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L (2002) GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 71:863-876
172. Herva R, Leisti J, Kirkinen P, Seppänen U (1985) A lethal autosomal recessive syndrome of multiple congenital contractures. Am J Med Genet 20:431-439
173. Herva R, Conradi NG, Kalimo H, Leisti J, Sourander P (1988) A syndrome of multiple congenital contractures: Neuropathological analysis on five fetal cases. Am J Med Genet 29:67-76
174. Kirkinen P, Herva R, Leisti J (1987) Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures. Prenat Diagn 7:189-196
175. Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipilä M, Herva R, Palotie A, Peltonen L (1998) Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. Am J Hum Genet 63:506-516
176. Vuopala K, Herva R (1994) Lethal congenital contracture syndrome - Further delineation with genetic aspects. J Med Genet 31:521-527
177. Vuopala K, Mäkelä-Bengs P, Suomalainen A, Herva R, Leisti J, Peltonen L (1995) Lethal congenital contracture syndrome - A fetal SMA-like disease is not linked to SMA-locus 5q. J Med Genet 32:36-38
178. Cutler CW (1895) Drei ungewöhnliche Fälle von Retino-Chorioideal-Degeneration. Arch Augenheilk 30:117
179. 31P spectrum in gyrate atrophy with hyperornithinemia. Eur J Clin Invest 29: 1060-1065
180. Jacobsohn E (1888) Ein Fall von Retinitis pigmentosa atypica. Klin Monatsbl Augenheilk 26:202-206
181. Kaiser-Kupfer MI, Caruso RC, Valle D (2002) Gyrate atrophy of the choroid and retina: Further experience with long-term reduction of ornithine levels in children. Arch Ophthalmol 129: 146-153
182. Peltola K, Heinonen OJ, Näntö-Salonen K, Pulkki K, Simell O (2000) Oral lysine feeding in gyrate atrophy with hyperornithinemia - A pilot study. J Inherit Metab Dis 23:305-307
183. Peltola KE, Näntö-Salonen K, Heinonen OJ, Heinänen K, Jääskeläinen S, Simell O, Nikoskelainen E (2001) Ophthalmological heterogeneity in patients with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. Ophthalmology 108:721-729
184. Simell O, Takki K (1973) Raised plasma-ornithine and gyrate atrophy of the choroid and retina. Lancet I:1031
185. Sipilä I, Simell O, Rapola J, Sainio K, Tuuteri L (1979) Gyrate atrophy of the choroid and retina with hyperornithinemia: Tubular aggregates and type 2 fiber atrophy in muscle. Neurology 29: 996-1005
186. Takki K (1975) Gyrate atrophy of the choroid and retina associated with hyperornithinaemia. Brit J Ophthalmol 58:3-23
187. Takki K, Simell O (1974) Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. Brit J Ophthalmol 58:907-916
188. Valle D, Simell O (2001) The hyperornithinemias. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The Metabolic & Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 1857-1895
189. Herva R, Seppänen U (1984) Roentgenologic findings of the hydrolethalus syndrome. Pediatr Radiol 14:41-43
190. Salonen R, Herva R (1990) Syndrome of the month: Hydrolethalus syndrome. J Med Genet 27:756-759
191. Salonen R, Herva R, Norio R (1981) The hydrolethalus syndrome: Delineation of a "new", lethal malformation syndrome based on 28 patients. Clin Genet 19:321-330
192. Visapää I, Salonen R, Varilo T, Paavola P, Peltonen L (1999) Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. Am J Hum Genet 65:1086-1095
193. Ämmälä P, Salonen R (1995) First-trimester diagnosis of hydrolethalus syndrome. Ultrasound Obstet Gynecol 5:60-62
194. Cho S, Dawson PE, Dawson G (2001) Role of palmitoyl-protein thioesterase in cell death: Implications for infantile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol 5 Suppl A:53-55
195. Hagberg B, Sourander P, Svennerholm L (1968) Late infantile progressive encephalopathy with disturbed polyunsaturated fat metabolism. Acta Paediat Scand 57:495-499
196. Haltia M, Rapola J, Santavuori P (1973) Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron-microscopic studies. Acta Neuropathol (Berl) 26:157-170
197. Haltia M, Rapola J, Santavuori P, Keränen P (1973) Infantile type of so-called neuronal ceroid-lipofuscinosis. Part 2. Morphological and biochemical studies. J Neurol Sci 18:269-285
198. Hellsten E, Vesa J, Speer MC, Mäkelä TP, Järvelä I, Alitalo K, Ott J, Peltonen L (1993) Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis. Genomics 16:720-725
199. Hofmann SL, Das AK, Lu JY, Wisniewski KE, Gupta P (2001) Infantile neuronal ceroid lipofuscinosis: No longer just a 'Finnish' disease. Eur J Paediatr Neurol 5 Suppl A:47-51
200. Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R, Aula P, Peltonen L (1991) Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) maps to the short arm of chromosome 1. Genomics 8:170-173
201. Lehtovirta M, Kyttälä A, Eskelinen EL, Hess M, Heinonen O, Jalanko A (2001) Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: Implications for infantile neuronal ceroid lipofuscinosis (INCL). Hum Mol Genet 10:69-75
202. Lu JY, Verkruyse LA, Hofmann SL (2002) The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function. Biochim Biophys Acta 1583:35-44
203. Lönnqvist T, Vanhanen SL, Vettenranta K, Autti T, Rapola J, Santavuori P, Saarinen-Pihkala UM (2001) Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis. Neurology 57:1411-1416
204. Mannerkoski MK, Heiskala HJ, Santavuori PR, Pouttu JA (2001) Transdermal fentanyl therapy for pains in children with infantile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol 5 Suppl A:175-177
205. Raitta C, Santavuori P (1973) Ophthalmological findings in infantile type of so-called neuronal ceroid lipofuscinosis. Acta Ophthalmol 51:755-763
206. Riikonen R, Vanhanen SL, Tyynelä J, Santavuori P, Turpeinen U (2000) CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis. Neurology 54:1828-1832
207. Salonen T, Heinonen-Kopra O, Vesa J, Jalanko A (2001) Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinosis. Mol Cell Neurosci 18:131-140
208. Salonen T, Järvelä I, Peltonen L, Jalanko A (2001) Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL; CLN1). Hum Mutat 15:273-279
209. Santavuori P, Haltia M, Rapola J, Raitta C (1973) Infantile type of so-called neuronal ceroid-lipofuscinosis. Part 1. A clinical study of 15 patients. J Neurol Sci 18:257-267
210. Van Diggelen OP, Keulemans JL, Kleijer WJ, Thobois S, Tilikete C, Voznyi YV (2001) Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). Eur J Paediatr Neurol 5 Suppl A:189-192
211. Vanhanen SL, Raininko R, Autti T, Santavuori P (1995) MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients. J Child Neurol 10:444-450
212. Vanhanen SL, Sainio K, Lappi M, Santavuori P (1997) EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis. Develop Med Child Neurol 39:456-463
213. Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584-587
214. Kallio AK, Jauhiainen T (1985) A new syndrome of ophthalmoplegia, hypoacusis, ataxia, hypotonia and athetosis (OHAHA). Adv Audiol 3:84-90
215. Koskinen T, Sainio K, Rapola J, Pihko H, Paetau A (1994) Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle & Nerve 17:509-515
216. Koskinen T, Santavuori P, Sainio K, Lappi M, Kallio AK, Pihko H (1994) Infantile onset spinocerebellar ataxia with sensory neuropathy: A new inherited disease. J Neurol Sci 121:50-56
217. Lönnqvist T, Paetau A, Nikali K, Von Boguslawski K, Pikho H (1998) Infant onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features. J Neurol Sci 161:57-65
218. Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L (1995) Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus. Am J Hum Genet 56:1088-1095
219. Nikali K, Isosomppi J, Lönnqvist T, Mao JI, Suomalainen A, Peltonen L (1997) Toward cloning of a novel ataxia gene: Refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 39:185-191
220. Varilo T, Nikali K, Suomalainen A, Lönnqvist T, Peltonen L (1996) Tracing an ancestral mutation: Genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. Genome Res 6:870-875
221. Autti T, Raininko R, Launes J, Nuutila A, Santavuori P (1992) Jansky-Bielschowsky variant disease: CT, MRI and SPECT findings. Pediatr Neurol 8:121-126
222. Holmberg V, Lauronen L, Autti T, Santavuori P, Savukoski M, Uvebrant P, Hofman I, Peltonen L, Järvelä I (2000) Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). Neurology 55:579-581
223. Isosomppi J, Vesa J, Jalanko A, Peltonen L (2002) Lysosomal localization of the neuronal lipofuscinosis CLN5 protein. Hum Mol Genet 11:885-891
224. Kirveskari E, Partinen M, Santavuori P (2001) Sleep and its disturbance in a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5). J Child Neurol 16:707-713
225. Klockars T, Savukoski M, Isosomppi J, Laan M, Järvelä I, Petrukhin K, Palotie A, Peltonen L (1996) Efficient construction of a physical map by fiber-fish of the CLN5 region: Refined assignment and long-range contig covering the critical region on 13q22. Genomics 35:71-78
226. Lauronen L, Huttunen J, Kirveskari E, Wikström H, Sainio K, Autti T, Santavuori P (2002) Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis. Clin Neurophysiol 113:1491-1500
227. Santavuori P, Rapola J, Sainio K, Raitta C (1982) A variant of Jansky-Bielschowsky disease. Neuropediatrics 13:135-141
228. Santavuori P, Rapola J, Nuutila A, Raininko R, Lappi M, Launes J, Herva R, Sainio K (1991) The spectrum of Jansky-Bielschowsky disease. Neuropediatrics 22:92-96
229. Savukoski M, Kestilä M, Williams R, Järvelä I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L (1994) Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am J Hum Genet 55:695-701
230. Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L (1998) CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 19:286-288
231. Sharp JD, Wheeler RB, Lake BD, Savukoski M, Järvelä IE, Peltonen L, Gardiner RM, Williams RE (1997) Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 6:591-595
232. Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen J, Järvelä I (1996) The age of human mutation: Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet 58:506-512
233. DiRocco M, Garibotto G, Rossi GA, Caruso U, Taccone A, Picco P, Borrone C (1993) Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance. Eur J Pediatr 152:437-440
234. Kekomäki M, Visakorpi JK, Perheentupa J, Saxén L (1967) Familial protein intolerance with deficient transport of basic amino acids; An analysis of 10 patients. Acta Paediat Scand 56:617-630
235. Koizumi A, Shoji Y, Nozaki J, Noguchi A, E X, Dakeishi M, Ohura T, Tsuyoshi K, Yasuhiko W, Manabe M, Takasago Y, Takada G (2000) A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group. Hum Mutat 16:270-271
236. Lauteala T, Sistonen P, Savontaus ML, Mykkänen J, Simell J, Lukkarinen M, Simell O, Aula P (1997) Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. Am J Hum Genet 60:1479-1486
237. Lauteala T, Mykkänen J, Sperandeo MP, Gasparini P, Savontaus ML, Simell O, Andria G, Sebastio G, Aula P (1998) Genetic homogeneity of lysinuric protein intolerance. Eur J Hum Genet 6:612-615
238. Lukkarinen M, Näntö-Salonen K, Pulkki K, Mattila K, Simell O (2000) Effect of lysine infusion on urea cycle in lysinuric protein intolerance. Metabolism 49:621-625
239. Mykkänen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, Huoponen K, Heinonen M, Oksanen J, Simell O, Savontaus ML, Zorzano A, Palacín M, Aula P (2000) Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance. Hum Mol Genet 9:431-438
240. Noguchi A, Shoji Y, Koizumi A, Takahashi T, Matsumori M, Kayo T, Ohata T, Wada Y, Yoshimura I, Maisawa S, Konishi M, Takasago Y, Takada G (2000) SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. Hum Mutat 15:367-372
241. Norio R, Perheentupa J, Kekomäki M, Visakorpi JK (1971) Lysinuric protein intolerance, an autosomal recessive disease; A genetic study of 10 Finnish families. Clin Genet 2:214-222
242. Parto K, Svedström E, Majurin ML, Härkönen R, Simell O (1993) Pulmonary manifestations in lysinuric protein intolerance. Chest 104:1176-1182
243. Perheentupa J, Visakorpi JK (1965) Protein intolerance with deficient transport of basic amino acids: Another inborn error of metabolism. Lancet II:813-816
244. Rajantie J, Simell O, Rapola J, Perheentupa J (1980) Lysinuric protein intolerance: A two-year trial of dietary supplementation therapy with citrulline and lysine. J Pediatr 97:927-932
245. Simell O (2001) Lysinuric protein intolerance and other kationic aminoacidurias. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The Metabolic & Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 4933-4956
246. Simell O, Perheentupa J, Rapola J, Visakorpi JK, Eskelin LE (1975) Lysinuric protein intolerance. Am J Med 59:229-239
247. Sperandeo MP, Bassi MT, Riboni M, Parentio G, Buoninconti A, Manzoni M, Incertio B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G (2000) Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet 66:92-99
248. Toivonen M, Mykkänen J, Aula P, Simell O, Savontaus ML, Huoponen K (2002) Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells. Biochem Biophys Res Commun 29:1173-1179
249. Torrents D, Mykkänen J, Pineda M, Feliubadaló L, Estèvez R, De Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacín (1999) Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet 21:293-296
250. Aula P, Karjalainen O, Rapola J, Lindgren J, Seppälä M (1977) Prenatal diagnosis of the Meckel syndrome. Am J Obstet Gynecol 129:700-702
251. Gruber GB (1934) Beiträge zur Frage "gekoppelter" Missbildungen (Akrocephalo-Syndactylie und Dysencephalia splanchnocystica). Beitr Pathol Anat 93:459-476
252. Johnson VP, Holzwarth DR (1984) Prenatal diagnosis of Meckel syndrome: Case reports and literature review. Am J Med Genet 19:699-711
253. Lurie IW, Prytkov AN, Meldere LV (1984) Meckel syndrome in different populations. Am J Med Genet 18:661-669
254. Meckel JF (1822) Beschreibung zweier, durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Dtsch Arch Physiol 7:99-172
255. Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM (1982) The Meckel syndrome. Pathological and cytogenetic observations in eight cases. Hum Genet 62:240-245
256. Morgan NV, Gissen P, Malik Sharif S, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller CG, Mueller RF, Trembath RC, Maher ER, Johnson CA (2002) A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. Hum Genet 111:456-461
257. Paavola P, Salonen R, Weissenbach J, Peltonen L (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 11:213-215
258. Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L (1997) Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 101:88-92
259. Paavola P, Avela K, Horelli-Kuitunen N, Bärlund M, Kallioniemi A, Idänheimo N, Kyttälä M, De La Chapelle A, Palotie A, Lehesjoki AE, Peltonen L (1999) High-resolution physical and genetic mapping of the critical region for Meckel syndrome and mulibrey nanism on chromosome 17q22-q23. Genome Res 9:267-276
260. Paetau A, Salonen R, Haltia M (1985) Brain pathology in the Meckel syndrome, a study of 59 cases. Clin Neuropathol 4:56-62
261. Rapola J, Salonen R (1985) Visceral anomalies in the Meckel syndrome. Teratology 31:193-201
262. Roume J, Genin E , Cormier-Daire V, Ma HW, Mehaye B, Attie T, Razavi-Encha F, Munnich A, Le Merrer M (1998) A gene for Meckel syndrome maps to chromosome 11q13. Am J Hum Genet 63:1095-1101
263. Salonen R (1984) The Meckel syndrome: Clinicopathological findings in 67 patients. Am J Med Genet 18:671-689
264. Salonen R, Norio R (1984) The Meckel syndrome in Finland: Epidemiological and genetic aspects. Am J Med Genet 18:691-698
265. Salonen R, Paavola P (1998) Syndrome of the month: Meckel syndrome. J Med Genet 35:497-501
266. Seppänen U, Herva R (1983) Roentgenologic features of the Meckel syndrome. Pediatr Radiol 13:329-331
267. Sergi C, Adam S, Kahl P, Otto HF (2000) Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. Pediatr Dev Pathol 3:568-583
268. Teebi AS, Al Saleh QA, Odeh H (1992) Meckel syndrome and neural tube defects in Kuwait. J Med Genet 29:140
269. Young ID, Rickett AB, Clarke M (1985) High incidence of Meckel's syndrome in Gujarati Indians. J Med Genet 22:301-304
270. Chen CD, Huff ME, Matteson J, Page L, Phillips R, Kelly JW, Balch WE (2001) Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization. EMBO J 20:6277-6287
271. Haltia M, Ghiso J, Prelli F, Gallo G, Kiuru S, Somer H, Palo J, Frangione B (1990) Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. Am J Pathol 136:1223-1228
272. Kangas H, Seidah NG, Paunio T (2002) Role of proprotein convertases in the pathogenic processing of the amyloidosis-associated form of secretory gelsolin. Amyloid 9:83-87
273. Kazmirski SL, Isaacson RL, An C, Buckle A, Johnson CM, Daggett V, Fersht AR (2002) Loss of metal-binding site in gelsolin leads to familial amyloidosis Finnish type. Nat Struct Biol 9:112-116
274. Kiuru S (1992) Familial amyloidosis of the Finnish type (FAF): A clinical study of 30 patients. Acta Neurol Scand 86:346-353
275. Kiuru S (1998) Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid Int J Exp Clin Invest 5:55-66
276. Kiuru S, Seppäläinen AM (1994) Neuropathy in familial amyloidosis, Finnish type (FAF): Electrophysiological studies. Muscle Nerve 17:299-304
277. Kiuru S, Nieminen T, Partinen M (1999) Obstructive sleep apnea syndrome in hereditary gelsolin-related amyloidosis. J Sleep Res 81:143-149
278. Kiuru S, Salonen O, Haltia M (1999) Gelsolin-related spinal and cerebral amyloid angiopathy. Ann Neurol 45:305-311
279. Kiuru S, Javela K, Somer H, Kekomäki R (2000) Altered platelet shape change in hereditary gelsolin Asp187Asn amyloidosis. Thromb Haemost 83:491-495
280. Kiuru-Enari S, Somer H, Seppäläinen AM, Notkola IL, Haltia M (2002) Neuromuscular pathology in hereditary gelsolin amyloidosis. J Neuropathol Exp Neurol 61:565-571
281. Kwiatkowski DJ, Westbrook CA, Bruns GAP, Morton CC (1988) Localization of gelsolin proximal to ABL on chromosome 9. Am J Hum Genet 42:565-572
282. Maury CPJ, Alli K, Baumann M (1990) Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. FEBS Lett 260:85-87
283. Maury CPJ, Kere J, Tolvanen R, De La Chapelle A (1990) Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett 276:75-77
284. Maury CP, Liljeström M, Boysen G, Törnroth T, De La Chapelle A, Nurmiaho-Lassila EL (2000) Danish type gelsolin related amyloidosis: 654G>T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G>A mutation (familial amyloidosis of the Finnish type). J Clin Pathol 53:95-99
285. Meretoja J (1969) Familial Systemic Paramyloidosis with Lattice Dystrophy of the Cornea, Progressive Cranial Neuropathy, Skin Change 324
286. Meretoja J (1973) Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet 4:173-185
287. Paunio T, Kangas H, Kalkkinen N, Haltia M, Palo J, Peltonen L (1994) Towards understanding the pathogenetic mechanism in gelsolin-related amyloidosis: In vitro expression reveals an abnormal gelsolin fragment. Hum Mol Genet 3:2223-2229
288. Rintala AE, Alanko A, Mäkinen J, Nordström R, Salo H (1988) Primary hereditary systemic amyloidosis (Meretoja's syndrome): Clinical features and treatment by plastic surgery. Scand J Plast Reconstr Surg 22:141-145
289. Rosenberg ME, Tervo TM, Gallar J, Acosta MC, Muller LJ, Moilanen JA, Tarkkanen AH, Vesaluoma MH (2001) Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). Invest Ophthalmol Vis Sci 42:634-641
290. Avela K, Lipsanen-Nyman M, Perheentupa J, Wallgren-Pettersson C, Marchand S, Fauré S, Sistonen P, De La Chapelle A, Lejesjoki AE (1997) Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. Am J Hum Genet 60:896-902
291. Avela K, Lipsanen-Nyman M, Idänheimo N, Seemanová E, Rosengren S, Mäkelä TP, Perheentupa J, De La Chapelle A, Lehesjoki AE (2000) Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. Nat Genet 25:298-301
292. Kallijärvi J, Avela K, Lipsanen-Nyman M, Ulmanen I, Lehesjoki AE (2002) The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: Classification of mulibrey nanism as a new peroxisomal disorder. Am J Hum Genet 70:1215-1228
293. Lapunzina P, Rodríguez JI, De Matteo E, Garcia R, Moreno F (1995) Mulibrey nanism: Three additional patients and a review of 39 patients. Am J Med Genet 55:349-355
294. Lipsanen-Nyman M (1986) Mulibrey-nanismi (in Finnish, English summary). Thesis, University of Helsinki
295. Paavola P, Avela K, Horelli-Kuitunen N, Bärlund M, Kallioniemi A, Idänheimo N, Kyttälä M, De La Chapelle A, Palotie A, Lehesjoki AE, Peltonen L (1999) High resolution physical and genetic mapping of the critical region for Meckel syndrome and mulibrey nanism on chromosome 17q22-q23. Genome Res 9:267-276
296. Perheentupa J, Autio S, Leisti S, Raitta C (1970) Mulibreynanism: Dwarfism with muscle, liver, brain and eye involvement. Acta Paediatr Scand 59 Suppl 206:74-75
297. Perheentupa J, Autio S, Leisti S, Raitta C, Tuuteri L (1973) Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet II:351-355
298. Perheentupa J, Autio S, Leisti S, Raitta C, Tuuteri L (1975) Mulibrey nanism: Review of 23 cases of a new autosomal recessive syndrome. Birth Defects Original Article Series Vol XI No 2:3-17
299. Raitta C, Perheentupa J (1974) Mulibrey nanism; An inherited dysmorphic syndrome with characteristic ocular findings. Acta Ophthalmol Suppl 123:162-171
300. Auranen M, Rapola J, Pihko H, Haltia M, Leivo I, Soinila S, Virtanen I, Kalimo H, Anderson LV, Santavuori P, Somer H (2000) Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. Neuromuscul Disord 10:16-23
301. Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, De La Chapelle A, Lehesjoki AE (1999) Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet 64:126-135
302. Cormand B, Pihko H, Bayes M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, Van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE (2001) Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 56:1059-1069
303. Dobyns WB, Pagon RA, Curry CJR, Greenberg F (1990) Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease. Am J Med Genet 36:373-374
304. Haltia M, Leivo I, Somer H, Pihko H, Paetau A, Kivelä T, Tarkkanen A, Tomé F, Engvall E, Santavuori P (1997) Muscle-eye-brain disease: A neuropathological study. Ann Neurol 41:173-180
305. Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talm B, Voit T, Topaloglu H, Endo T, Youshikawa H, Toda T (2002) Deficiency of alpha-dystroglycan in muscle-eye-brain disease. Biochem Biophys Res Commun 291:1283-1286
306. Michele DE, Barressi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP (2002) Post-translational disruption of dystroglycan-ligand interactions in congenital musular dystrophies. Nature 418:417-422
307. Moore SA, Saito F, Chen J, Michele DE, Henry MD, Messing A, Cohn RD, Ross-Barta SE, Westra S, Williamson RA, Hoshi T, Campbell KP (2002) Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418:422-425
308. Pihko H, Lappi M, Raitta C, Sainio K, Valanne L, Somer H, Santavuori P (1995) Ocular findings in muscle-eye-brain (MEB) disease: A follow-up study. Brain Dev 17:57-61
309. Raitta C, Lamminen M, Santavuori P, Leisti J (1978) Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. Acta Ophthalmol 56:465-472
310. Ranta S, Pihko H, Santavuori P, Tahvanainen E, De La Chapelle A (1995) Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Neuromusc Disord 5:221-225
311. Santavuori P, Leisti J, Kruus S (1977) Muscle, eye and brain disease: A new syndrome. Neuropädiatrie 8 (Suppl):553-558
312. Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, Ketonen L, Leisti J (1989) Muscle-eye-brain disease (MEB). Brain Dev 11:147-153
313. Santavuori P, Pihko H, Sainio K, Lappi M, Somer H, Haltia M, Raitta C, Ketonen L, Leisti J (1990) Muscle-eye-brain disease and Walker-Warburg syndrome. Am J Med Genet 36:371-372
314. Santavuori P, Valanne L, Autti T, Haltia M, Pihko H, Sainio K (1998) Muscle-eye-brain disease; Clinical features, visual evoked potentials and brain imaging in 20 patients. Eur J Paediatr Neurol 1:41-47
315. Valanne L, Pihko H, Katevuo K, Karttunen P, Somer H, Santavuori P (1994) MRI of the brain in muscle-eye-brain (MEB) disease. Neuroradiology 36:473-476
316. Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mizuhashi H, Takahashi S, Takeuchi M, Herrman R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T (2001) Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Develop Cell 1:717-724
317. Åberg L, Järvelä I, Rapola J, Autti T, Kirveskari E, Lappi M, Sipilä L, Santavuori P (1998) Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall. Acta Neuropathol 95:306-312
318. Das AK, Becerra CHR, Yi W, Lu JY, Siakotos AN, Wisniewski KE (1998) Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest 102:361-370
319. Goebel HH, Mole SE, Lake BD (eds) (1999) The Neuronal Ceroid Lipofuscinoses (Batten Disease). IOS Press, Amsterdam
320. Haltia M (2003) The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 62:1-13
321. Haltia M, Herva R, Suopanki J, Baumann M, Tyynelä J (2001) Hippocampal lesions in the neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol 5 (Suppl A):209-211
322. Heinonen O, Salonen T, Jalanko A, Peltonen L, Copp A (2000) CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain. J Comp Neurol 426:406-412
323. Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE (2001) Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. Eur J Paediatr Neurol 5 (Suppl A):21-27
324. Mitchison HM, Mole SE (eds) (2001) Recent advances in the neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol 5 (Suppl A)
325. Mitchison HM, Hofmann SL, Becerra CHR, Munroe P, Lake BD, Crow YJ, Stephenson JBP, Williams RE, Hofman IL, Taschner PEM, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1998) Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 7:291-297
326. Ranta S, Savukoski M, Santavuori P, Haltia M (2001) Studies of homogenous populations: CLN5 and CLN8. Adv Genet 45:123-140
327. Rapola J, Santavuori P, Savilahti E (1984) Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid-lipofuscinoses. Hum Pathol 15:352-360
328. Santavuori P, Vanhanen SL, Autti T (2001) Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinosis disorders. Eur J Paediatr Neurol 5 (Suppl A):157-161
329. Van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JLM, Van Bunderen PA, Taschner PEM, Losekoot M, Voznyi YV (2001) Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease. Ann Neurol 50:269-272
330. Vesa J, Chin MH, Oelgeschlager K, Isosomppi J, DellAngelica EC, Jalanko A, Peltonen L (2002) Neuronal ceroid lipofuscinoses are connected at molecular level: Interaction of CLN5 protein with CLN2 and CLN3. Mol Biol Cell 13:2410-2420
331. Wisniewski KE (2001) Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 57:576-581
332. Wisniewski KE, Zhong N (eds) (2001) Batten disease. Adv Genet 45: (several articles on different NCL diseases)
333. Choi CG, Lee HK, Yoon JH (2001) Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant. Korean J Radiol 2:239-242
334. Gerritsen T, Kaveggia E, Waisman HA (1965) A new type of idiopathic hyperglycinemia with hypo-oxaluria. Pediatrics 36:882-891
335. Hamosh A, Johnston MV (2001) Nonketotic hyperglycinemia. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The Metabolic & Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 2065-2078
336. Huisman TA, Thiel T, Steinmann B, Zeilinger G, Martin E (2002) Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: In vivo-in vitro (ex vivo) correlation. Eur Radiol 12:858-861
337. Kure S, Takayanagi M, Narisawa K, Tada K, Leisti J (1992) Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. J Clin Invest 90:160-164
338. Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR (1989) Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. Am J Neuroradiol 10:315-321
339. Tada K, Kure S (1993) Non-ketotic hyperglycinaemia: Molecular lesion, diagnosis and pathophysiology. J Inher Metab Dis 16:691-703
340. Visakorpi JK, Donner M, Norio R (1965) Hyperglycinuria with severe neurological manifestations. Ann Paediatr Fenn 11:114-117
341. Von Wendt L, Similä S, Hirvasniemi A, Suvanto E (1978) Nonketotic hyperglycinaemia. A clinical analysis of 19 Finnish patients. Monogr Hum Genet 9:58-64
342. Von Wendt L, Similä S, Hirvasniemi A, Suvanto E (1978) Altered levels of various amino acids in blood plasma and cerebrospinal fluid of patients with nonketotic hyperglycinemia. Neuropädiatrie 9:360-368
343. Von Wendt L, Hirvasniemi A, Similä S (1979) Nonketotic hyperglycinemia. A genetic study of 13 Finnish families. Clin Genet 15:411-417
344. Von Wendt L, Alanko H, Sorri M, Toivakka E, Saukkonen AL, Similä S (1981) Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia. Clin Genet 19:94-100
345. Herva R, Tyynelä J, Hirvasniemi A, Syrjäkallio-Ylitalo M, Haltia M (2000) Northern epilepsy: A novel form of neuronal ceroid-lipofuscinosis. Brain Pathol 10:215-222 (also in Abstracts, 12. Scandinavian Congress of Neurology, June 10-13, 1998, Oulu, Finland)
346. Hirvasniemi A, Leisti J (1991) An inherited form of childhood epilepsy associated with mental retardation. Am J Hum Genet 49 (SUPPL, without number):147
347. Hirvasniemi A, Lang H, Lehesjoki AE, Leisti J (1994) Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration. J Med Genet 31:177-182
348. Lauronen L, Santavuori P, Hirvasniemi A, Kirveskari E, Huttunen J, Autti T (2001) Northern epilepsy syndrome (NES, CLN8) - MRI and electrophysiological studies. Eur J Paediat Neurol 5:167-173
349. Lonka L, Kyttälä A, Ranta S, Jalanko A, Lehesjoki AE (2000) The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Hum Mol Genet 9:1691-1697
350. Ranta S, Lehesjoki AE, De Fatima Bonaldo M, Knowles JA, Hirvasniemi A, Ross B, De Jong PJ, Bento Soares M, De La Chapelle A, Gilliam TC (1997) High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Genome Res 7:887-896
351. Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Bento Soares M, De Fatima Bonaldo M, Hirvasniemi A, De La Chapelle A, Gilliam TC, Lehesjoki AE (1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 23:233-236
352. Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, Weissenbach J, Lehesjoki AE, De La Chapelle A (1994) The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA 91:7267-7270
353. Chitty LS, Robb S, Berry C, Silver D, Baraitser M (1996) PEHO or PEHO-like syndrome? Clin Dysmorphol 5:143-152
354. Fujimoto S, Yokochi K, Nakano M, Wada Y (1995) Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. Neuropediatrics 26:270-272
355. Haltia M, Somer M (1993) Infantile cerebello-optic atrophy: Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). Acta Neuropathol 85:241-247
356. Salonen R, Somer M, Haltia M, Lorenz M, Norio R (1991) Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 39:287-293
357. Somer M (1993) Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 30:932-936
358. Somer M, Salonen O, Pihko H, Norio R (1993) PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): Neuroradiological findings. Am J Neuroradiol 14:861-867
359. Somer M, Setälä K, Kivelä T, Haltia M, Norio R (1993) The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy); Ophthalmological findings and differential diagnosis. Neuro-Ophthalmology 13:65-72
360. Vanhatalo S, Somer M, Barth PG (2002) Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. Neuropediatrics 33:100-104
361. Hakola HPA (1972) Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr Scand Suppl 232
362. Hakola HPA (1990) Polycystic lipomembranous osteodysplasia with sclerosing encephalopathy (membranous lipodystrophy); A neuropsychiatric follow-up study with an appendix by PEJ Virtama, MT Hakola and HPA Hakola: Bone radiography of PLO-SL cases. Monographs of Psychiatria Fennica 17
363. Järvi OH, Lauttamus LL, Solonen KA (1964) Membranous reticulin dysplasia of bones. Probably a new disease entity. (Only title). In: Proceedings of the 14th Scandinavian Congress of Pathology and Microbiology. Universitetsforlaget, Oslo, p 51
364. Järvi OH, Hakola HPA, Lauttamus LL, Solonen KA, Vilppula AH (1968) Cystic capillary-necrotic osteodysplasia, a systemic bone disease probably caused by arteriolar and capillary necroses. Relation to brain affections. Abstracts, Seventh International Congress of International Academy of Pathology, Milan 1968, pp 291-292
365. Kalimo H, Sourander P, Järvi O, Hakola P (1994) Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). Acta Neurol Scand 89:353-361
366. Nasu T, Tsukahara Y, Terayama K (1973) A lipid metabolic disease - Membranous lipodystrophy - An autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. Acta Pathol Jap 23:539-558
367. Nylander PO, Drugge U, Holmgren G, Adolfsson R (1996) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): A genealogic study of Swedish families of probable Finnish background. Clin Genet 50:353-357
368. Paloneva J, Kestilä M, Wu J, Salminen A, Böhling T, Ruotsalainen V, Hakola P, Bakker ABH, Phillips JH, Pekkarinen P, Lanier LL, Timonen T, Peltonen L (2000) Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet 25:357-361
369. Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, Hakola P, Haltia M (2001) CNS manifestations of Nasu-Hakola disease: A frontal dementia with bone cysts. Neurology 56:1552-1558
370. Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L (2002) Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet 71:656-662
371. Pekkarinen P, Hovatta I, Hakola P, Järvi O, Kestilä M, Lenkkeri U, Adolfsson R, Holmgren G, Nylander PO, Tranebjaerg L, Terwilliger JD, Lönnqvist J, Peltonen L (1998) Assignment of the locus for PLO-SL, a frontal lobe dementia with bone cysts, to 19q13. Am J Hum Genet 62:362-372
372. Pekkarinen P, Kestilä M, Paloneva J, Terwilliger J, Varilo T, Järvi O, Hakola P, Peltonen L (1998) Fine-scale mapping of a novel dementia gene, PLO-SL, by linkage disequilbrium. Genomics 54:307-315
373. Terayama K (1961) Two cases of cystic bone disease showing peculiar features. Nippon Seikeigeka Gakkai Zasshi 35:626 (in Japanese)
374. Verloes A, Maquet P, Sadzot B, Vivario M, Thiry A, Franck G (1997) Syndrome of the month: Nasu-Hakola syndrome: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and presenile dementia. J Med Genet 34:753-757
375. Berkovic SF, So NK, Andermann F (1991) Progressive myoclonus epilepsies: Clinical and neurophysiological diagnosis. J Clin Neurophysiol 8:261-274
376. Fedi M, Reutens D, Dubeau F, Andermann E, D'Agostino D, Andermann F (2001) Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy. Arch Neurol 58:781-786
377. Forss N, Silen T, Karjalainen T (2001) Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy. Ann Neurol 49:90-97
378. Haltia M, Kristensson K, Sourander P (1969) Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy. Acta Neurol Scand 45:63-77
379. Harenko A, Toivakka E (1961) Myoclonus epilepsy (Unverricht-Lundborg) in Finland. Acta Neurol Scand 37:282-296
380. Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R (1974) Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand 50:307-332
381. Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Hernandez Cossio O, Sörensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA (1997) Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 15:298-302
382. Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE (1997) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386:847-851
383. Lehesjoki AE, Koskiniemi M (1998) Clinical features and genetics of progressive myoclonus epilepsy of the Unverricht-Lundborg type. Ann Med 30:474-480
384. Lehesjoki AE, Koskiniemi M, Sistonen P, Miao J, Hästbacka J, Norio R, De La Chapelle A (1991) Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 88:3696-3699
385. Lehesjoki AE, Koskiniemi M, Pandolfo M, Antonelli A, Kyllerman M, Wahlström J, Nergårdh A, Burmeister M, Sistonen P, Norio R, De La Chapelle A (1992) Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. Neurology 42:1545-1550
386. Lundborg H (1901) Über Degeneration und degenerierte Geschlechter in Schweden. I. Klinische Studien und Erfahrungen hinsichtlich der familiären Myoklonie und damit verwandter Krankheiten. Isaac Marcus' Boktr.-Aktiebolag, Stockholm
387. Lundborg H (1903) Die Progressive Myoklonus-Epilepsie (Unverrichts Myoklonie). Almqvist & Wiksell, Uppsala
388. Malafosse A, Lehesjoki AE, Genton P, Labuage P, Durand G, Tassinari CA, Dravet C, Michelucci R, De La Chapelle A (1992) Identical genetic locus for Baltic and Mediterranean myoclonus. Lancet 339:1080-1081
389. Marseille Consensus Group (1990) Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 28:113-116
390. Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguiere F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Cherif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresio C, Malafosse A (2002) Haplotype study of West European and North African Unverricht-Lundborg chromosomes: Evidence for a few founder mutations. Hum Genet 111:255-262
391. Norio R, Koskiniemi M (1979) Progressive myoclonus epilepsy; Genetic and nosological aspects with a special reference to 107 Finnish patients. Clin Genet 15:382-398
392. Pennachio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, De La Chapelle A, Cox DR, Myers RM (1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271:1731-1734
393. Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM (1998) Progressive ataxia, myoclonus epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet 20:251-258
394. Unverricht H (1891) Die Myoclonie. Deuticke, Leipzig und Wien
395. Unverricht H (1895) Über familiäre Myoclonie. Dtsch Z Nervenheilkd 7:32-67
396. Uthman BM, Reichl A (2002) Progressive myoclonus epilepsies. Curr Treat Options Neurol 4:3-17 (data on zonisamide and piracetam medication)
397. Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franchescetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, De La Chapelle A, Lehesjoki AE (1997) Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 15:393-396
398. Jam K, Fox M, Crandall BF (1999) RAPADILINO syndrome: A multiple malformation syndrome with radial and patellar aplasia. Teratology 60:37-38
399. Kant SG, Baraitser M, Milla PJ, Winter (1998) Rapadilino syndrome - A non-Finnish case. Clin Dysmorphol 7:135-138
400. Kääriäinen H, Ryöppy S, Norio R (1989) RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am J Med Genet 33:346-351
401. Regla Vargas F, Cabral De Almeida JC, Clinton Llerena J Jr, Fagundes Reis D (1992) RAPADILINO syndrome. Am J Med Genet 44:716-719
402. Alitalo T, Kruse TA, De La Chapelle A (1991) Refined localization of the gene causing X-linked juvenile retinoschisis. Genomics 9:505-510
403. De La Chapelle A, Alitalo T, Forsius H (1994) X-linked juvenile retinoschisis. In: Wright AW, Jay B (eds) Molecular Genetics of Inherited Eye Disorders (Modern Genetics Vol.2). Harwood Academic Publications, Great Britain, pp 339-357
404. Forsius H, Vainio-Mattila B, Eriksson A (1962) X-linked hereditary retinoschisis. Brit J Ophthalmol 46:678-681
405. Forsius H, Krause U, Helve J, Vuopala V, Mustonen E, Vainio-Mattila B, Fellman J, Eriksson AW (1973) Visual acuity in 183 cases of X-chromosomal retinoschisis. Can J Ophthalmol 8:385-393
406. Forsius HR, Eriksson AW, Damsten M (1990) Progression in juvenile X-chromosomal retinoschisis. Acta Ophthalmol 68 Suppl 195: 113-119
407. Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D (2000) Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet 9:1873-1879
408. Haas J (1898) Über das Zusammenvorkommen von Veränderungen der Retina und Chorioidea. Arch Augenheilkd 37:343-348
409. Huopaniemi L, Rantala A, Tahvanainen E, De La Chapelle A, Alitalo T (1997) Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. Am J Hum Genet 60:1139-1149
410. Huopaniemi L, Rantala A, Forsius H, Somer M, De La Chapelle A, Alitalo T (1999) Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. Eur J Hum Genet 7:368-376
411. Molday LL, Hicks D, Sauer CG, Weber BH, Molday RS (2001) Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 42:816-825
412. The Retinoschisis Consortium (1998) Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Hum Mol Genet 7:1185-1192
413. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BHF (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 17:164-170
414. Vainio-Mattila B, Eriksson AW, Forsius H (1969) X-chromosomal recessive retinoschisis in the region of Pori; An ophthalmo-genetical analysis of 103 cases. Acta Ophthalmol 47:1135-1148
415. Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L (2000) The spectrum of SLC17 A5-gene mutations resulting in free sialic acid storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet 67:832-840
416. Aula P, Gahl WA (2001) Disorders of free sialic acid storage. In: Sciver CR, Beaudet AL, Valle D, Sly WS (eds) The Metabolic & Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 5109-5120
417. Aula P, Autio S, Raivio K, Rapola J, Thodén CJ, Koskela SL, Yamashina I (1979) "Salla disease". A new lysosomal storage disorder. Arch Neurol 36:88-94
418. Haataja L, Parkkola R, Sonninen P, Vanhanen SL, Schleutker J, Äärimaa T, Turpeinen V, Renlund M, Aula P (1994) Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. Neuropediatrics 25:1-7
419. Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P (1994) The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. Am J Hum Genet 54:1042-1049
420. Havelaar AC, Beerens CEMT, Mancini GMS, Verheijen FW (1999) Transport of organic anions by the lysosomal sialic acid transporter: A functional approach towards the gene for sialic acid storage disease. FEBS Lett 446:65-68
421. Leppänen P, Isosomppi J, Schleutker J, Aula P, Peltonen L (1996) A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect. Genomics 37:62-67
422. Renlund M, Aula P, Raivio K, Autio S, Sainio K, Rapola J, Koskela SL (1983) Salla disease: A new lysosomal storage disorder with disturbed sialic acid metabolism. Neurology 33:57-66
423. Renlund M, Kovanen PT, Raivio KO, Aula P, Gahmberg CG, Ehnholm C (1986) Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. J Clin Invest 77:568-574
424. Salomäki P, Aula N, Juvonen V, Renlund M, Aula P (2001) Prenatal detection of free sialic acid storage disease: Genetic and biochemical studies in nine families. Prenat Diagn 21:354-358
425. Schleutker J, Laine AP, Haataja L, Renlund M, Wiessenbach J, Aula P, Peltonen L (1995) Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. Genomics 27:286-292
426. Schleutker J, Leppänen P, Månsson JE, Erikson A, Weissenbach J, Peltonen L, Aula P (1995) Lysosomal free sialic acid storage disorders with different phenotypic presentations - Infantile-form sialic acid storage disease and Salla disease - Represent allelic disorders on 6q14-15. Am J Hum Genet 57:893-901
427. Varho T, Jääskeläinen S, Tolonen U, Sonninen P, Vainionpää L, Aula P, Sillanpää M (2000) Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Neurology 55:99-104
428. Varho TT, Alajoki LE, Posti KM, Korhonen TT, Renlund MG, Nyman SRG, Sillanpää ML, Aula PP (2002) Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. Pediat Neurol 26:267-273
429. Verheijen FW, Verbeek E, Aula N, Beerens CEMT, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, Van Der Spek PJ, Mancini GMS (1999) A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet 23:462-465
430. Aminoff M, Tahvanainen E, Gräsbeck R, Weissenbach J, Broch H, De La Chapelle A (1995) Selective intestinal malabsorption of vitamin B12 displays recessive Mendelian inheritance: Assignment of a locus to chromosome 10 by linkage. Am J Hum Genet 57:824-831
431. Aminoff M, Carter JE, Chadwick RB, Johnson C, Gräsbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, De La Chapelle A, Krahe R (1999) Mutations in CUBN, encoding the intrinsic factor - Vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet 21:309-313
432. Dugue B, Aminoff M, Aimone-Gastin, I, Leppänen E, Gräsbeck R, Gueant JL (1998) A urinary radioisotope-binding assay to diagnose Gräsbeck-Imerslund disease. J Pediatr Gastroenterol Nutr 26:21-25
433. 12. Scand J Haematol 11:27-34
434. Fyfe JC, Giger U, Hall CA, Jezyk PF, Klompp SA, Levine JS, Patterson DF (1991) Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs. Pediat Res 29:24-31
435. 12 malabsorption and proteinuria in young people: A syndrome. Acta Med Scand 167:289-296
436. Guéant JL, Saunier M, Gastin I, Safi A, Lamireau T, Duclos B Bigard MA, Gräsbeck R (1995) Decreased activity of intestinal and urinary intrinsic factor in Gräsbeck-Imerslund disease. Gastroenterology 108:1622-1628
437. Imerslund O (1959, 1960) Idiopathic Chronic Megaloblastic Anesmia in Children. Oslo University Press, Oslo 1959
438. Acta Paediat 1960:49:Suppl 119;
439. Summary of supplement = Acta Paediat 1960:49:208-209
440. Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N, Verroust PJ, Moestrup SK (1998) The human intrinsic factor - vitamin B12 receptor, cubilin: Molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. Blood 91:3593-3600
441. Kristiansen M, Aminoff M, Jacobsen C, De La Chapelle A, Krahe R, Verroust PJ, Moestrup SK (2001) Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor - vitamin B(12) by cubilin. Blood 97:3316-3317
442. 12. Mod Probl Pediatr 11:150-160
443. Åberg LE, Bäckman M, Kirveskari E, Santavuori P (2000) Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis. Epilepsia 41:1296-1302
444. Autti T, Raininko R, Vanhanen SL, Santavuori P (1996) Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis. Neuroradiology 38:476-482
445. Von Bagh K, Hortling H (1948) Finska Läkaresällsk Handl 38:1072-1076
446. Callen DF, Baker E, Lane S, Nancarrow J, Thompson A, Whitmore SA, MacLennan DH, Berger R, Cherif D, Järvelä I, Peltonen L, Sutherland GR, Gardiner RM (1991) Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. Am J Hum Genet 49:1372-1377
447. Gardiner RM, Sandford A, Deadman M, Poulton J, Reeders S, Jokiaho I, Peltonen L, Julier C (1990) Batten disease (Spielmeyer-Vogt; Juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16. Genomics 8:387-390
448. Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC (1996) Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet 33:1041-1042
449. Järvelä I, Sainio M, Rantamäki T, Olkkonen VM, Carpén O, Peltonen L, Jalanko A (1998) Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet 7:85-90
450. Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A (1999) Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). Hum Mol Genet 8:1091-1098
451. Lamminranta S, Åberg LE, Autti T, Moren R, Laine T, Kaukuoranta J, Santavuori P (2001) Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res 45:8-17
452. Launes J, Heiskala H, Nikkinen P, Santavuori P (1996) Brain perfusion SPECT in juvenile neuronal ceroid lipofuscinosis. Neuropediatrics 27:84-87
453. Lauronen L, Heikkilä E, Autti T, Sainio K, Huttunen J, Aronen HJ, Korvenoja A, Ilmoniemi RJ, Santavuori P (1997) Somatosensory evoked magnetic fields from primary sensorimotor cortex in juvenile neuronal ceroid lipofuscinosis. J Child Neurol 12:355-360
454. Lauronen L, Munroe PB, Järvelä I, Autti T, Mitchison HM, O'Rawe AM, Gardiner RM, Mole SE, Puranen J, Häkkinen AM, Kirveskari E, Santavuori P (1999) Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. Neurology 52:360-365
455. Luiro K, Kopra O, Lehtovirta M, Jalanko A (2001) CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: New clues to Batten disease. Hum Mol Genet 10:2123-2131
456. Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Järvelä I (1996) Prenatal diagnosis of Batten's disease. Lancet 347:1014-1015
457. Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PEM, De Vos N, Breuning MH, Gardiner RM, Mole SE (1997) Spectrum of mutations in the Batten disease gene. Am J Hum Genet 61:310-316
458. The International Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease, CLN3. Cell 82:949-957
459. Stengel S (1826) Account of a singular illness among four siblings in the vicinity of Roraas. Eyr (Christiania) 1:347-352
460. Vesa J, Peltonen L (2002) Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins. Curr Mol Med 2:439-444
461. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B (2002) Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 71:492-500
462. Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L (1998) Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 62:620-626
463. Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B (2001) Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene. Neurology 56:869-877
464. Udd B (1992) Limb-girdle type muscular dystrophy in a large family with distal myopathy: Homozygous manifestation of a dominant gene? J Med Genet 29:383-389
465. Udd B, Kääriäinen H, Somer H (1991) Muscular dystrophy with separate clinical phenotypes in a large family. Muscle & Nerve 14:1050-1058
466. Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen H, Laulumaa V, Paljärvi L, Rapola J, Reunanen M, Sonninen V, Somer H (1993) Tibial muscular dystrophy-late adult onset distal myopathy in 66 Finnish patients. Arch Neurol 50:604-608
467. Adato A, Vreugde S, Joensuu T, Avidan N, Hämäläinen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millan JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokowski S, Sankila EM, Beckmann JS, Lancet D (2002) Ush3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 10:339-350
468. Fields RR, Zhou G, Huang D, Davis JR, Moller C, Jacobson SG, Kimberling WJ, Sumegi J (2002) Usher syndrome type III: Revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet 71:607-617
469. Gorlin RJ, Tilsner TJ, Feinstein S, Duvall AJ (1979) Usher's syndrome type III. Arch Otolaryngol 105:353-354
470. Von Graefe A (1858) Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut. Albrecht Von Graefes Arch Ophthalmol 4:250-253
471. Hallgren B (1959) Retinitis pigmentosa combined with congenital deafness; With vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genetico-statistical study. Acta Psychiatr Neurol Scand 34: Suppl 138
472. Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kääriäinen H, Brown S, De La Chapelle A, Sankila EM (1996) Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. Genomics 38:255-263
473. Joensuu T, Hämäläinen R, Lehesjoki AE, De La Chapelle A, Sankila EM (2000) A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q. Genomics 63:409-416
474. Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, De La Chapelle A, Sankila EM (2001) Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 69:673-684
475. Karjalainen S, Pakarinen L, Teräsvirta M, Kääriäinen H, Vartiainen E (1989) Progressive hearing loss in Usher's syndrome. Ann Otol Rhinol Laryngol 98:863-866
476. Lindenov H (1945) The aetiology of deaf-mutism with special reference to heredity. Thesis, Copenhagen, Opera ex Domo Univ. Hafniensis No 8
477. Nuutila A (1968) Neuropsychiatric and genetic aspects of the dystrophia retinae pigmentosa-dysacusis syndrome. Thesis, University of Helsinki
478. Nuutila A (1970) Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): A study of the Usher- or Hallgren syndrome. J Génét Hum 18:57-88
479. Pakarinen L, Sankila EM, Tuppurainen K, Karjalainen S, Kääriäinen H (1995) Usher syndrome type III (USH3): The clinical manifestations in 42 patients. Scand J Log Phon 20:141-150
480. Pakarinen L, Tuppurainen K, Laippala P, Mäntyjärvi M, Puhakka H (1996) The ophthalmological course of Usher syndrome type III. Int Ophthalmol 19:307-311
481. Sankila EM, Pakarinen L, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, De La Chapelle A (1995) Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 4:93-98
482. Smith RJH, Berlin CI, Hejtmancik JF, Keats BJB, Kimberling WJ, Lewis RA, Möller CG, Pelias MSZ, Tranebjaerg L (1994) Clinical diagnosis of the Usher syndromes. Am J Med Genet 50:32-38
483. Usher CH (1913-1914) On the inheritance of retinitis pigmentosa with notes of cases. Royal London Ophthalmol Hosp Rep 19:130-236
484. Vuopala K, Herva R, Leisti J (1994) Lethal arthrogryposis in Finland - A clinicopathological study of 83 cases during thirteen years. Neuropediatrics 25:308-315
485. Vuopala K, Ignatius J, Herva R (1995) Lethal arthrogryposis with anterior horn cell disease. Human Pathol 26:12-19
486. Ala-Mello S, Koskimies O, Rapola J, Kääriäinen H (1999) Nephronophthisis in Finland: Epidemiology and comparison of genetically classified subgroups. Eur J Hum Genet 7:205-211
487. Koskela S, Javela K, Jouppila J, Juvonen E, Nyblom O, Partanen J, Kekomäki R (1999) Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in eleven patients of five unrelated Finnish families. Eur J Haematol 62:256-264
488. Pirinen S, Kentala A, Nieminen P, Varilo T, Thesleff I, Arte S (2001) Recessively inherited low incisor hypodontia. J Med Genet 38:551-556
489. St.-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. Hum Mol Genet 3:69-72
490. Tyni T, Pihko H (1999) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Acta Paediatr 88:237-245
491. Tyni T, Palotie A, Viinikka L, Valanne L, Salo M, Von Döbeln U, Jackson S, Wanders R, Venizelos N, Pihko H (1997) Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients. J Pediatr 130:67-76
492. Visakorpi JK (1972) Aminohappojen aineenvaihduntahäiriöt (Inborn errors of amino acid metabolism, English summary). Duodecim 88:72-85