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Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
Published in:
Clinical Genetics, 2006, v. 70, n. 6, p. 490, doi. 10.1111/j.1399-0004.2006.00705.x
By:
- Ivanova, N;
- Löfgren, A.;
- Tournev, I.;
- Rousev, R.;
- Andreeva, A.;
- Jordanova, A.;
- Georgieva, V.;
- Deconinck, T.;
- Timmerman, V.;
- Kremensky, I.;
- De Jongh3,6, P.;
- Mitev, V.
Publication type:
Article
MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets.
Published in:
Molecular Psychiatry, 2015, v. 20, n. 4, p. 472, doi. 10.1038/mp.2014.53
By:
- Strazisar, M;
- Cammaerts, S;
- van der Ven, K;
- Forero, D A;
- Lenaerts, A-S;
- Nordin, A;
- Almeida-Souza, L;
- Genovese, G;
- Timmerman, V;
- Liekens, A;
- De Rijk, P;
- Adolfsson, R;
- Callaerts, P;
- Del-Favero, J
Publication type:
Article
Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Published in:
2004
By:
- Züchner, S;
- Mersiyanova, I V;
- Muglia, M;
- Bissar-Tadmouri, N;
- Rochelle, J;
- Dadali, E L;
- Zappia, M;
- Nelis, E;
- Patitucci, A;
- Senderek, J;
- Parman, Y;
- Evgrafov, O;
- Jonghe, P De;
- Takahashi, Y;
- Tsuji, S;
- Pericak-Vance, M A;
- Quattrone, A;
- Battologlu, E;
- Polyakov, A V;
- Timmerman, V
Publication type:
Correction Notice
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.
Published in:
1995
By:
- Navon, R.;
- Timmerman, V.;
- Löfgren, A.;
- Liang, P.;
- Nelis, E.;
- Zeitune, M.;
- Van Broeckhoven, C.;
- Löfgren, A
Publication type:
journal article
PMP22 Thr118Met is not a clinically relevant CMT1 marker.
Published in:
Journal of Neurology, 2000, v. 247, n. 9, p. 696, doi. 10.1007/s004150070113
By:
- Young, P.;
- Stögbauer, F.;
- Eller, B.;
- de Jonghe, P.;
- Löfgren, A.;
- Timmerman, V.;
- Rautenstrauß, B.;
- Oexle, K.;
- Grehl, H.;
- Kuhlenbäumer, G.;
- Van Broeckhoven, C.;
- Ringelstein, E.B.;
- Funke, H.
Publication type:
Article
A Second Family with Autosomal Dominant Burning Feet Syndrome.
Published in:
Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 445, doi. 10.1111/j.1749-6632.1999.tb08606.x
By:
- KUHLENBÄUMER, G.;
- YOUNG, P.;
- KIEFER, R.;
- TIMMERMAN, V.;
- WANG, J.-F.;
- SCHROEDER, J. M.;
- WEIS, J.;
- RINGELSTEIN, E. B.;
- VAN BROECKHOVEN, C.;
- STOEGBAUER, F.
Publication type:
Article
Molecular Diagnostic Testing in Charcot-Marie-Tooth Disease and Related Disorders: Approaches and Results.
Published in:
Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 389, doi. 10.1111/j.1749-6632.1999.tb08600.x
By:
- JONGHE, P.;
- NELIS, E.;
- TIMMERMAN, V.;
- LÖFGREN, A.;
- MARTIN, J-J.;
- VAN BROECKHOVEN, C.
Publication type:
Article
Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics.
Published in:
Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 60, doi. 10.1111/j.1749-6632.1999.tb08568.x
By:
- TIMMERMAN, V.;
- BEUTEN, J.;
- IROBI, J.;
- JONGHE, P.;
- MARTIN, J.-J.;
- VAN BROECKHOVEN, C.
Publication type:
Article
Hereditary Neuralgic Amyotrophy: Mutation Analysis of Candidate Genes.
Published in:
Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 443, doi. 10.1111/j.1749-6632.1999.tb08605.x
By:
- MEULEMAN, J.;
- KUHLENBÄUMER, G.;
- SCHIRMACHER, A.;
- WEHNERT, M.;
- YOUNG, P.;
- STÖGBAUER, F.;
- RINGELSTEIN, E. B.;
- VAN BROECKHOVEN, C.;
- TIMMERMAN, V.
Publication type:
Article
Mutation Screening of Charcot-Marie-Tooth Patients in Poland.
Published in:
Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 493, doi. 10.1111/j.1749-6632.1999.tb08619.x
By:
- KOCHAŃSKI, A.;
- TIMMERMAN, V.;
- JEDRZEJOWSKA, H.;
- RYNIEWICZ, B.;
- LÖFGREN, A.;
- VRIENDT, E.;
- VAN BROECKHOVEN, C.;
- LATOS-BIELEŃSKA, A.;
- HAUSMANOWA-PETRUSEWICZ, I.
Publication type:
Article
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).
Published in:
Human Genetics, 2001, v. 108, n. 5, p. 390, doi. 10.1007/s004390100510
By:
- Meuleman, J.;
- Kuhlenbäumer, G.;
- Audenaert, D.;
- Hünermund, G.;
- Hor, H.;
- Young, P.;
- Stögbauer, F.;
- Ringelstein, E. B.;
- Van Broeckhoven, C.;
- De Jonghe, P.;
- Timmerman, V.
Publication type:
Article
The effect of social media use on work-related learning.
Published in:
Journal of Computer Assisted Learning, 2014, v. 30, n. 2, p. 159, doi. 10.1111/jcal.12037
By:
- Puijenbroek, T.;
- Poell, R.F.;
- Kroon, B.;
- Timmerman, V.
Publication type:
Article
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family.
Published in:
Pflügers Archiv: European Journal of Physiology, 2000, v. 439, n. 7, p. r208, doi. 10.1007/BF03376574
By:
- Leonardis, L.;
- Zidar, J.;
- Popovič, M.;
- Timmerman, V.;
- Löfgren, A.;
- Broeckhoven, C. Van;
- Butinar, D.
Publication type:
Article
Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation.
Published in:
Annals of Human Genetics, 2008, v. 72, n. 3, p. 416, doi. 10.1111/j.1469-1809.2007.00412.x
By:
- Barisic, N.;
- Claeys, K. G.;
- Sirotković-Skerlev, M.;
- Löfgren, A.;
- Nelis, E.;
- De Jonghe, P.;
- Timmerman, V.
Publication type:
Article
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
Published in:
Annals of Human Genetics, 2001, v. 65, n. 6, p. 517, doi. 10.1017/S0003480001008910
By:
- IROBI, J.;
- NELIS, E.;
- MEULEMAN, J.;
- VENKEN, K.;
- DE JONGHE, P.;
- VAN BROECKHOVEN, C.;
- TIMMERMAN, V.
Publication type:
Article
Inherited peripheral neuropathies: a myriad of genes and complex phenotypes.
Published in:
2011
By:
- Baets J;
- Timmerman V
Publication type:
Journal Article
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Published in:
2009
By:
- Rotthier A;
- Baets J;
- De Vriendt E;
- Jacobs A;
- Auer-Grumbach M;
- Lévy N;
- Bonello-Palot N;
- Kilic SS;
- Weis J;
- Nascimento A;
- Swinkels M;
- Kruyt MC;
- Jordanova A;
- De Jonghe P;
- Timmerman V;
- Rotthier, Annelies;
- Baets, Jonathan;
- De Vriendt, Els;
- Jacobs, An;
- Auer-Grumbach, Michaela
Publication type:
journal article
Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Published in:
2004
By:
- Parman Y;
- Battaloglu E;
- Baris I;
- Bilir B;
- Poyraz M;
- Bissar-Tadmouri N;
- Williams A;
- Ammar N;
- Nelis E;
- Timmerman V;
- De Jonghe P;
- Necefov A;
- Deymeer F;
- Serdaroglu P;
- Brophy PJ;
- Said G
Publication type:
Journal Article
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
Published in:
2004
By:
- Irobi J;
- Van den Bergh P;
- Merlini L;
- Verellen C;
- Van Maldergem L;
- Dierick I;
- Verpoorten N;
- Jordanova A;
- Windpassinger C;
- De Vriendt E;
- Van Gerwen V;
- Auer-Grumbach M;
- Wagner K;
- Timmerman V;
- De Jonghe P
Publication type:
Journal Article
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease.
Published in:
Brain: A Journal of Neurology, 2003, v. 126, n. 3, p. 590, doi. 10.1093/brain/awg059
By:
- Jordanova, A.;
- De Jonghe, P.;
- Boerkoel, C. F.;
- Takashima, H.;
- De Vriendt, E.;
- Ceuterick, C.;
- Martin, J.‐J.;
- Butler, I. J.;
- Mancias, P.;
- Papasozomenos, S. Ch.;
- Terespolsky, D.;
- Potocki, L.;
- Brown, C. W.;
- Shy, M.;
- Rita, D. A.;
- Tournev, I.;
- Kremensky, I.;
- Lupski, J. R.;
- Timmerman, V.
Publication type:
Article
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
Published in:
Brain: A Journal of Neurology, 2002, v. 125, n. 6, p. 1320, doi. 10.1093/brain/awf127
By:
- De Jonghe, P.;
- Auer‐Grumbach, M.;
- Irobi, J.;
- Wagner, K.;
- Plecko, B.;
- Kennerson, M.;
- Zhu, D.;
- De Vriendt, E.;
- Van Gerwen, V.;
- Nicholson, G.;
- Hartung, H.‐P.;
- Timmerman, V.
Publication type:
Article
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
Published in:
Brain: A Journal of Neurology, 1999, v. 122, n. 2, p. 281, doi. 10.1093/brain/122.2.281
By:
- De Jonghe, P;
- Timmerman, V;
- Ceuterick, C;
- Nelis, E;
- De Vriendt, E;
- Löfgren, A;
- Vercruyssen, A;
- Verellen, C;
- Van Maldergem, L;
- Martin, J-J;
- Van Broeckhoven, C
Publication type:
Article
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Published in:
2006
By:
- Züchner S;
- De Jonghe P;
- Jordanova A;
- Claeys KG;
- Guergueltcheva V;
- Cherninkova S;
- Hamilton SR;
- Van Stavern G;
- Krajewski KM;
- Stajich J;
- Tournev I;
- Verhoeven K;
- Langerhorst CT;
- de Visser M;
- Baas F;
- Bird T;
- Timmerman V;
- Shy M;
- Vance JM
Publication type:
Journal Article
Developing 3D SEM in a broad biological context.
Published in:
Journal of Microscopy, 2015, v. 259, n. 2, p. 80, doi. 10.1111/jmi.12211
By:
- KREMER, A.;
- LIPPENS, S.;
- BARTUNKOVA, S.;
- ASSELBERGH, B.;
- BLANPAIN, C.;
- FENDRYCH, M.;
- GOOSSENS, A.;
- HOLT, M.;
- JANSSENS, S.;
- KROLS, M.;
- LARSIMONT, J.‐C.;
- Mc GUIRE, C.;
- NOWACK, M.K.;
- SAELENS, X.;
- SCHERTEL, A.;
- SCHEPENS, B.;
- SLEZAK, M.;
- TIMMERMAN, V.;
- THEUNIS, C.;
- VAN BREMPT, R.
Publication type:
Article
Socioeconomic and modifiable predictors of blood pressure control for hypertension in primary care attenders in the Western Cape, South Africa.
Published in:
SAMJ: South African Medical Journal, 2016, v. 106, n. 12, p. 1241, doi. 10.7196/SAMJ.2016.v106.i12.12005
By:
- Folb, N.;
- Bachmann, M. O.;
- Bateman, E. D.;
- Steyn, K.;
- Levitt, N. S.;
- Timmerman, V.;
- Lombard, C.;
- Gaziano, T. A.;
- Fairall, L. R.
Publication type:
Article
Multimorbidity, control and treatment of noncommunicable diseases among primary healthcare attenders in the Western Cape, South Africa.
Published in:
SAMJ: South African Medical Journal, 2015, v. 105, n. 8, p. 642, doi. 10.7196/samjNEW.8794
By:
- Folb, N;
- Timmerman, V.;
- Levitt, N. S.;
- Steyn, K.;
- Bachmann, M. O.;
- Lund, C.;
- Bateman, E. D.;
- Lombard, C.;
- Gaziano, T. A.;
- Zwarenstein, M.;
- Fairall, L. R.
Publication type:
Article
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
Published in:
2001
By:
- De Jonghe, Peter;
- Mersivanova, Irina;
- Nelis, Eva;
- Del Favero, Jurgen;
- Martin, Jean-Jacques;
- Van Broeckhoven, Christine;
- Evgrafov, Oleg;
- Timmerman, Vincent;
- De Jonghe, P;
- Mersivanova, I;
- Nelis, E;
- Del Favero, J;
- Martin, J J;
- Van Broeckhoven, C;
- Evgrafov, O;
- Timmerman, V
Publication type:
journal article
Expression of ciliary neurotrophic factor (CNTF) in charcot-marie-tooth type 1A (CMT1A) disease.
Published in:
2004
By:
- Vigo, T.;
- Schenone, A;
- Mancardi, G;
- Abruzzese, M;
- Timmerman, V;
- Van Hummelen, P;
- Nobbio, L
Publication type:
Abstract
Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous.
Published in:
2002
By:
- Kuhlenbaumer, G;
- Meuleman, J;
- De Jonghe, P;
- Falck, B;
- Young, P;
- Hunermund, G;
- Van Broeckhoven, C;
- Timmerman, V;
- Stogbauer, F
Publication type:
Abstract
A CLONE CONTIG OF 12Q24.3 ENCOMPASSING THE DISTAL HEREDITARY MOTOR NEUROPATHY TYPE II GENE.
Published in:
Journal of the Peripheral Nervous System, 2000, v. 5, n. 4, p. 242, doi. 10.1111/j.1529-8027.2000.22-25.x
By:
- Irobi, J;
- Tissir, F;
- De Jonghe, P;
- De Vriendt, E;
- Van Broeckhoven, C;
- Timmerman, V;
- Beuten, J.
Publication type:
Article
Ocean Ventilation Controls the Contrasting Anthropogenic CO<sub>2</sub> Uptake Rates Between the Western and Eastern South Atlantic Ocean Basins.
Published in:
Global Biogeochemical Cycles, 2022, v. 36, n. 6, p. 1, doi. 10.1029/2021GB007265
By:
- Gao, Hui;
- Cai, Wei‐Jun;
- Jin, Meibing;
- Dong, Changming;
- Timmerman, Amanda H. V.
Publication type:
Article
Consistent Relationships Among Productivity Rate Methods in the NE Subarctic Pacific.
Published in:
Global Biogeochemical Cycles, 2021, v. 35, n. 2, p. 1, doi. 10.1029/2020GB006721
By:
- Timmerman, Amanda H. V.;
- Hamme, Roberta C.
Publication type:
Article

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