All individuals

6394 entries on 64 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
Reference     
Ethnic origin     
Remarks     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00000001 Murakami N1, Tsuchiya T, Kanazawa N, Tsujino S, Nagai T.(2008) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000003 Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000004 Salmaggi A, Botturi A, Lamperti E, Grisoli M, Fischetto R, Ceccherini I, Caroli F, Boiardi A.(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000005 Cáceres-Marzal C1, Vaquerizo J, Galán E, Fernández S.(206) - - ALXDRD presented at the age of 5 months with refractory epilepsy and hypotonia GFAP GFAP 1 1 Y Yang
00000006 Hirayama T, Fukae J, Noda K, Fujishima K, Yamamoto T, Mori K, Maeda M, Hattori N, Shiroma N, Tsurui S, Okuma Y.(2008) - - ALXDRD Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour GFAP GFAP 1 1 Y Yang
00000007 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000008 Matej R1, Dvoráková L, Mrázová L, Houst'ková H, Elleder M.(2008) - - ALXDRD The case was characterized by early (late infantile) onset, the absence of megacephaly but with extensive internal hydrocephaly, despite a patent aqueduct. GFAP GFAP 1 1 Y Yang
00000009 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000010 Kawai M1, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K.(2006) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000011 Hartmann H1, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000012 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000013 Hartmann H1, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000014 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000015 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000016 Ishigaki K1, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M.(2006) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000017 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000018 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000019 Dinopoulos A1, Gorospe JR, Egelhoff JC, Cecil KM, Nicolaidou P, Morehart P, DeGrauw T.(2006) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000020 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000021 Bachetti T1, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I.(2008) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000022 Shiihara T1, Kato M, Honma T, Ohtaki S, Sawaishi Y, Hayasaka K.(2002) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000023 Bachetti T1, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I.(2008) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000024 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000025 Namekawa M1, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I.(2010) - - ALXDRD Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement GFAP GFAP 1 1 Y Yang
00000026 Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM.(2007) - - ALXDRD Alexander disease with occipital predominance GFAP GFAP 1 1 Y Yang
00000027 Brenner M1, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A.(2001) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000028 Van Poppel K1, Broniscer A, Patay Z, Morris EB.(2009) - - ALXDRD We report the case of a 6-year-old male who was referred to a tertiary oncology center with a focal brainstem lesion which was presumed to be neoplastic. Due to the symmetric nature of the lesion on magnetic resonance imaging, the evaluation was expanded to investigate other possible causes and eventual diagnosis of Alexander's disease (AD) was made. GFAP GFAP 1 1 Y Yang
00000029 Howard KL1, Hall DA, Moon M, Agarwal P, Newman E, Brenner M.(2008) - - ALXDRD Adult-onset Alexander disease with progressive ataxia and palatal tremor GFAP GFAP 1 1 Y Yang
00000030 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000031 Aoki Y1, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y.(2001) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000032 Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000033 Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000034 Tanaka K1, Lee HU, Ikenaka K.(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000035 Shiihara T1, Yoneda T, Mizuta I, Yoshida T, Nakagawa M, Shimizu N.(2011) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000037 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000038 Delnooz CC, Schelhaas JH, van de Warrenburg BP, de Graaf RJ, Salomons GS.(2008) - - ALXDRD Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes GFAP GFAP 1 1 Y Yang
00000039 Brockmann K1, Meins M, Taubert A, Trappe R, Grond M, Hanefeld F.(2003) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000040 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000041 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000042 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000043 Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000044 Pareyson D1, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M.(2008) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000045 Farina L1, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.(2008) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000046 Kaneko H, Hirose M, Katada S, Takahashi T, Naruse S, Tsuchiya M, Yoshida T, Nakagawa M, Onodera O, Nishizawa M, Ikeuchi T.(2009) - - ALXDRD adult-onset Alexander disease presenting with spastic ataxia GFAP GFAP 1 1 Y Yang
00000047 Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000048 Kyllerman M1, Rosengren L, Wiklund LM, Holmberg E.(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000049 Suzuki Y1, Kanazawa N, Takenaka J, Okumura A, Negoro T, Tsujino S.(2004) - - ALXDRD The neurological deterioration was mild and appeared relatively late for infantile onset. GFAP GFAP 1 1 Y Yang
00000050 "Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G(2001) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000053 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000054 Ye Wu1, Qiang Gu, Jingmin Wang, Yanling Yang, Xiru Wu, Yuwu Jiang.(2008) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000055 Meins M1, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.(2002) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000057 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000058 Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000059 Ma HW1, Lu JF, Jiang J, Chen LY, Niu GH, Wu BM, Kanazawa N, Tsujino S.(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000060 Stumpf E1, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P.(2003) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000061 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000062 "Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G(2001) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000063 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000064 "Rodriguez D1, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G(2001) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000065 Ohnari K1, Yamano M, Uozumi T, Hashimoto T, Tsuji S, Nakagawa M.(2007) - - ALXDRD This case presented with progressive dysarthria, dysphagia and spastic gait on the right side. Brain and spinal cord MRI showed marked atrophy of the medulla oblongata and spinal cord. Abnormal high signal intensities in the ventral medulla oblongata were detected bilaterally. GFAP GFAP 1 1 Y Yang
00000066 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000067 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000068 Gorospe JR1, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.(2002) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000069 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000070 Salvi F, Aoki Y, Della Nave R, Vella A, Pastorelli F, Scaglione C, Matsubara Y, Mascalchi M.(2005) - - ALXDRD Adult Alexander's disease without leukoencephalopathy GFAP GFAP 1 1 Y Yang
00000071 "Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A(2005) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000072 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000073 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000074 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000075 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000076 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000077 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000078 "Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R(2007) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000079 Shiihara T1, Yoneda T, Mizuta I, Yoshida T, Nakagawa M, Shimizu N.(2011) - - ALXDRD extreme white matter loss of cerebrum through cerebellum, severe atrophy of basal ganglia, cerebellum, brain stem, and cervical spinal cord GFAP GFAP 1 1 Y Yang
00000080 Suzuki H1, Yoshida T, Kitada M, Ichihashi J, Sasayama H, Nishikawa Y, Mistui Y, Nakagawa M, Kusunoki S.(2012) - - ALXDRD She showed psychomotor regression and a history of seizures, in addition to pendular nystagmus, dysarthria, spastic gait, and bladder dysfunction. Brain magnetic resonance imaging (MRI) showed atrophy of the medulla oblongata and mild cervical cord atrophy, deep white matter abnormalities, periventricular rim, and signal changes of the medulla oblongata and dentate hilum. GFAP GFAP 1 1 Y Yang
00000081 Namekawa M1, Takiyama Y, Honda J, Sakoe K, Naoi T, Shimazaki H, Yamagata T, Momoi MY, Nakano I.(2012) - - ALXDRD Episodic vomiting appeared at age nine, causing anorexia and insufficient growth. Brain MRI at age 11 showed a small nodular lesion with contrast enhancement in the left dorsal portion of the cervicomedullary junction. Her episodic vomiting improved spontaneously at age 13, and she became neurologically asymptomatic. The enhancement of the lesion disappeared simultaneously, although the plaque remained. Longitudinal MRI observations, however, revealed insidiously progressive cervicomedullary atrophy without a signal change. GFAP GFAP 1 1 Y Yang
00000082 Hida A, Ishiura H, Arai N, Fukuoka H, Hasuo K, Goto J, Uesaka Y, Tsuji S, Takeuchi S.(2012) - - ALXDRD presented with severe vocal cord paralysis during sleep GFAP GFAP 1 1 Y Yang
00000084 Torisu H1, Yoshikawa Y, Yamaguchi-Takada Y, Yano T, Sanefuji M, Ishizaki Y, Sawaishi Y, Hara T.(2013) - - ALXDRD Alexander disease with mild dorsal brainstem atrophy and infantile spasms GFAP GFAP 1 1 Y Yang
00000085 Wada Y1, Yanagihara C, Nishimura Y, Namekawa M.(2013) Japanese - ALXDRD unusual bilateral basal ganglia involvement GFAP GFAP 1 1 Y Yang
00000086 Ashrafi MR1, Tavasoli A2, Aryani O3, Alizadeh H4, Houshmand M5.(2013) Iran - ALXDRD - GFAP GFAP 1 1 Y Yang
00000087 Ashrafi MR1, Tavasoli A2, Aryani O3, Alizadeh H4, Houshmand M5.(2013) Iran - ALXDRD - GFAP GFAP 1 1 Y Yang
00000088 Brenner M, Messing A.(2014) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000089 Ramesh K1, Sharma S, Kumar A, Salomons GS, van der Knaap MS, Gulati S.(2013) Indian - ALXDRD - GFAP GFAP 1 1 Y Yang
00000090 Nishri D1, Edvardson S2, Lev D3, Leshinsky-Silver E4, Ben-Sira L5, Henneke M6, Lerman-Sagie T7, Blumkin L(2014) - - ALXDRD a combination of neurological symptoms and signs (developmental regression, failure to thrive, episodic deterioration, abnormal eye movements, pyramidal and cerebellar signs), urinary excretion of 3-methyl-glutaconic acid and imaging findings (extensive white matter changes and cerebellar atrophy) with a normal head circumference GFAP GFAP 1 1 Y Yang
00000091 Nam TS1, Kim JH2, Chang CH3, Yoon W4, Jung YS5, Kang SY6, Shin BA7, Perng MD3, Choi SY8, Kim MK1.(2015) - - ALXDRD - GFAP GFAP 1 1 Y Yang
00000092 Peacock ML1, Murman DL, Sima AA, Warren JT Jr, Roses AD, Fink JK.(1994) - - AD - APP APP 1 1 Y Yang
00000093 Mullan M1, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L.(1992) - - AD - APP APP 1 1 Y Yang
00000094 Mullan M1, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L.(1992) - - AD - APP APP 1 1 Y Yang
00000095 Wakutani Y1, Watanabe K, Adachi Y, Wada-Isoe K, Urakami K, Ninomiya H, Saido TC, Hashimoto T, Iwatsubo T, Nakashima K.(2004) - - AD - APP APP 1 1 Y Yang
00000096 Hendriks L1, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp F, Warren A, McInnis MG, Antonarakis SE, Martin JJ, et al.(1992) - - AD - APP APP 1 1 Y Yang
00000097 Kamino K1, Orr HT, Payami H, Wijsman EM, Alonso ME, Pulst SM, Anderson L, O'dahl S, Nemens E, White JA, et al.(1992) - - AD - APP APP 1 1 Y Yang
00000098 Balbín M1, Abrahamson M, Gustafson L, Nilsson K, Brun A, Grubb A.(1992) - - AD - APP APP 1 1 Y Yang
00000099 Rossi G1, Giaccone G, Maletta R, Morbin M, Capobianco R, Mangieri M, Giovagnoli AR, Bizzi A, Tomaino C, Perri M, Di Natale M, Tagliavini F, Bugiani O, Bruni AC.(2004) - - AD - APP APP 1 1 Y Yang
00000100 Pasalar P1, Najmabadi H, Noorian AR, Moghimi B, Jannati A, Soltanzadeh A, Krefft T, Crook R, Hardy J.(2002) - - AD - APP APP 1 1 Y Yang
00000101 "Kumar-Singh S1, De Jonghe C, Cruts M, Kleinert R, Wang R, Mercken M, De Strooper B, Vanderstichele H, L?fgren A, Vanderhoeven I, Backhovens H, Vanmechelen E, Kroisel PM(2000) - - AD - APP APP 1 1 Y Yang
00000102 Ancolio K1, Dumanchin C, Barelli H, Warter JM, Brice A, Campion D, Frébourg T, Checler F.(1999) - - AD - APP APP 1 1 Y Yang
00000103 Eckman CB1, Mehta ND, Crook R, Perez-tur J, Prihar G, Pfeiffer E, Graff-Radford N, Hinder P, Yager D, Zenk B, Refolo LM, Prada CM, Younkin SG, Hutton M, Hardy J.(1997) - - AD - APP APP 1 1 Y Yang
00000104 Murrell J1, Farlow M, Ghetti B, Benson MD.(1991) - - AD - APP APP 1 1 Y Yang
00000105 Chartier-Harlin MC1, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, et al.(1991) - - AD - APP APP 1 1 Y Yang
00000106 Goate A1, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, et al.(1991) - - AD - APP APP 1 1 Y Yang
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