المؤلفون: Kaiyrzhanov R, Rad A, Lin S-J, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schoneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortum F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenco CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R

المصدر: Brain, 4 April 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/298053; https://eprints.ncl.ac.uk/fulltext.aspx?url=298053/0D025C43-2E4A-457E-8060-419EA8753223.pdf&pub_id=298053

الاتاحة: https://eprints.ncl.ac.uk/298053

المؤلفون: Holland, N, Savulich, G, Jones, PS, Whiteside, DJ, Street, D, Swann, P, Naessens, M, Malpetti, M, Hong, YT, Fryer, TD, Rittman, T, Mulroy, E, Aigbirhio, FI, Bhatia, KP, O'Brien, JT, Rowe, JB

المصدر: Movement Disorders (2024) (In press).

مصطلحات موضوعية: Alzheimer's disease, CBD/PSP, corticobasal syndrome, synaptic loss, β‐amyloid status

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10191851/1/Movement%20Disorders%20-%202024%20-%20Holland%20-%20Differential%20Synaptic%20Loss%20in%20%20Amyloid%20Positive%20Versus%20%20Amyloid%20Negative.pdf; https://discovery.ucl.ac.uk/id/eprint/10191851/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10191851/1/Movement%20Disorders%20-%202024%20-%20Holland%20-%20Differential%20Synaptic%20Loss%20in%20%20Amyloid%20Positive%20Versus%20%20Amyloid%20Negative.pdf
https://discovery.ucl.ac.uk/id/eprint/10191851/

المؤلفون: Kaiyrzhanov, R, Rad, A, Lin, S-J, Bertoli-Avella, A, Kallemeijn, WW, Godwin, A, Zaki, MS, Huang, K, Lau, T, Petree, C, Efthymiou, S, Karimiani, EG, Hempel, M, Normand, EA, Rudnik-Schöneborn, S, Schatz, UA, Baggelaar, MP, Ilyas, M, Sultan, T, Alvi, JR, Ganieva, M, Fowler, B, Aanicai, R, Tayfun, GA, Al Saman, A, Alswaid, A, Amiri, N, Asilova, N, Shotelersuk, V, Yeetong, P, Azam, M, Babaei, M, Monajemi, GB, Mohammadi, P, Samie, S, Banu, SH, Pinto Basto, J, Kortüm, F, Bauer, M, Bauer, P, Beetz, C, Garshasbi, M, Issa, AH, Eyaid, W, Ahmed, H, Hashemi, N, Hassanpour, K, Herman, I, Ibrohimov, S, Abdul-Majeed, BA, Imdad, M, Isrofilov, M, Kaiyal, Q, Khan, S, Kirmse, B, Koster, J, Lourenço, CM, Mitani, T, Moldovan, O, Murphy, D, Najafi, M, Pehlivan, D, Rocha, ME, Salpietro, V, Schmidts, M, Shalata, A, Mahroum, M, Talbeya, JK, Taylor, RW, Vazquez, D, Vetro, A, Waterham, HR, Zaman, M, Schrader, TA, Chung, WK, Guerrini, R, Lupski, JR, Gleeson, J, Suri, M, Jamshidi, Y, Bhatia, KP, Vona, B, Schrader, M, Severino, M, Guille, M, Tate, EW, Varshney, GK, Houlden, H, Maroofian, R

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdf; https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zip; https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdf; Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; et al. Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; Efthymiou, S; Karimiani, EG; Hempel, M; Normand, EA; Rudnik-Schöneborn, S; Schatz, UA; Baggelaar, MP; Ilyas, M; Sultan, T; Alvi, JR; Ganieva, M; Fowler, B; Aanicai, R; Tayfun, GA; Al Saman, A; Alswaid, A; Amiri, N; Asilova, N; Shotelersuk, V; Yeetong, P; Azam, M; Babaei, M; Monajemi, GB; Mohammadi, P; Samie, S; Banu, SH; Pinto Basto, J; Kortüm, F; Bauer, M; Bauer, P; Beetz, C; Garshasbi, M; Issa, AH; Eyaid, W; Ahmed, H; Hashemi, N; Hassanpour, K; Herman, I; Ibrohimov, S; Abdul-Majeed, BA; Imdad, M; Isrofilov, M; Kaiyal, Q; Khan, S; Kirmse, B; Koster, J; Lourenço, CM; Mitani, T; Moldovan, O; Murphy, D; Najafi, M; Pehlivan, D; Rocha, ME; Salpietro, V; Schmidts, M; Shalata, A; Mahroum, M; Talbeya, JK; Taylor, RW; Vazquez, D; Vetro, A; Waterham, HR; Zaman, M; Schrader, TA; Chung, WK; Guerrini, R; Lupski, JR; Gleeson, J; Suri, M; Jamshidi, Y; Bhatia, KP; Vona, B; Schrader, M; Severino, M; Guille, M; Tate, EW; Varshney, GK; Houlden, H; Maroofian, R (2024) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147 (4). pp. 1436-1456. ISSN 1460-2156 https://doi.org/10.1093/brain/awad380 SGUL Authors: Jamshidi, Yalda

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115881/
https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdf
https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zip
https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdf
https://doi.org/10.1093/brain/awad380

المؤلفون: Pirazzini, C, Azevedo, T, Baldelli, L, Bartoletti-Stella, A, Calandra-Buonaura, G, Dal Molin, A, Dimitri, GM, Doykov, I, Gomez-Garre, P, Hagg, S, Hallqvist, J, Halsband, C, Heywood, W, Jesus, S, Jylhava, J, Kwiatkowska, KM, Labrador-Espinosa, MA, Licari, C, Maturo, MG, Mengozzi, G, Meoni, G, Milazzo, M, Perinan-Tocino, MT, Ravaioli, F, Sala, C, Sambati, L, Schade, S, Schreglmann, S, Spasov, S, Tenori, L, Williams, D, Xumerle, L, Zago, E, Bhatia, KP, Capellari, S, Cortelli, P, Garagnani, P, Houlden, H, Lio, P, Luchinat, C, Delledonne, M, Mills, K, Mir, P, Mollenhauer, B, Nardini, C, Pedersen, NL, Provini, F, Strom, S, Trenkwalder, C, Turano, P, Bacalini, MG, Franceschi, C

المصدر: Mechanisms of ageing and development. 194:111426

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146345763

المؤلفون: Rajan, R, Anandapadmanabhan, R, Vishnoi, A, Vishnu, VY, Latorre, A, Agarwal, H, Ghosh, T, Mangat, N, Biswas, D, Gupta, A, Radhakrishnan, DM, Singh, MB, Bhatia, R, Srivastava, A, Srivastava, MVP, Bhatia, KP

المصدر: Movement Disorders Clinical Practice , 10 (9) pp. 1333-1340. (2023)

مصطلحات موضوعية: neuropathic tremor, Guillain-Barre syndrome, tremor analysis, dystonic tremor

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10173643/1/Bhatia_GBS%20Tremor%20Manuscript_R2_clean%20copy.pdf; https://discovery.ucl.ac.uk/id/eprint/10173643/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10173643/1/Bhatia_GBS%20Tremor%20Manuscript_R2_clean%20copy.pdf
https://discovery.ucl.ac.uk/id/eprint/10173643/

المؤلفون: Whiteside, DJ, Holland, N, Tsvetanov, KA, Mak, E, Malpetti, M, Savulich, G, Jones, PS, Naessens, M, Rouse, MA, Fryer, TD, Hong, YT, Aigbirhio, FI, Mulroy, E, Bhatia, KP, Rittman, T, O’Brien, JT, Rowe, JB

المصدر: Nature Communications , 14 , Article 8458. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10184825/1/s41467-023-44307-7.pdf; https://discovery.ucl.ac.uk/id/eprint/10184825/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10184825/1/s41467-023-44307-7.pdf
https://discovery.ucl.ac.uk/id/eprint/10184825/

المؤلفون: De, A, Bhatia, KP, Volkmann, J, Peach, R, Schreglmann, SR

المصدر: Movement Disorders (2023) (In press).

مصطلحات موضوعية: accelerometer, artificial intelligence, classification, feature based

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10168067/1/Machine%20Learning%20in%20Tremor%20Analysis%20%20Critique%20and%20Directions.pdf; https://discovery.ucl.ac.uk/id/eprint/10168067/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10168067/1/Machine%20Learning%20in%20Tremor%20Analysis%20%20Critique%20and%20Directions.pdf
https://discovery.ucl.ac.uk/id/eprint/10168067/

المؤلفون: Schreglmann, SR, Goncalves, T, Grant‐Peters, M, Kia, DA, Soreq, L, Ryten, M, Wood, NW, Bhatia, KP, Tomita, K

مصطلحات موضوعية: ageing, cerebellum, leukocyte, MM-qPCR, putamen, spleen, substantia nigra, telomeres

وصف الملف: 1 - 14; Print-Electronic

Relation: Aging Cell; ORCID iDs: Tomas Goncalves orcid:0000-0002-3342-0461; Kazunori Tomita orcid:0000-0003-1096-6725.; e13861; Schreglmann, S.R. et al. (2023) 'Age‐related telomere attrition in the human putamen', Aging Cell, 0 (ahead-of-print), e13861, pp. 1 - 14. doi:10.1111/acel.13861.; https://bura.brunel.ac.uk/handle/2438/26374; https://doi.org/10.1111/acel.13861

الاتاحة: https://bura.brunel.ac.uk/handle/2438/26374
https://doi.org/10.1111/acel.13861

المؤلفون: Meoni, G, Tenori, L, Schade, S, Licari, C, Pirazzini, C, Bacalini, MG, Garagnani, P, Turano, P, Molin, AD, Bartoletti-Stella, A, Gabellini, A, Adarmes-Gómez, AD, Scaglione, CLM, Nardini, C, Rosaria, C, Boninsegna, C, Sala, C, Giuliani, C, Tejera-Parrado, C, Macias, D, Buiza-Rueda, D, Williams, D, Zago, E, Provini, F, Magrinelli, F, Mignani, F, Ravaioli, F, Valzania, F, Sixel-Döring, F, Mengozzi, G, Calandra-Buonaura, G, Dimitri, GM, Fabbri, G, Houlden, H, Huertas, I, Doykov, I, Hällqvist, J, Rodríguez, JFM, Jylhävä, J, Bhatia, KP, Mills, K, Baldelli, L, Xumerle, L, Sambati, L, Milazzo, M, Broli, M, Maturo, MG, Periñán-Tocino, MT, Carriòn-Claro, M, Bonilla-Toribio, M, Delledonne, M, Labrador-Espinosa, MA, Pedersen, NL, Mir, P, De Massis, P, Cortelli, P, Guaraldi, P, Liò, P, Gómez-Garre, P, Clayton, R, Escuela-Martin, R, Ortega, RV, Capellari, S, Hägg, S, Schreglmann, SR, De Luca, S, Spasov, S, Nassetti, SA, Macrì, S, Azevedo, T, Heywood, W, Trenkwalder, C, Franceschi, C, Mollenhauer, B, Luchinat, C

المصدر: npj Parkinson's Disease , 8 , Article 14. (2022)

مصطلحات موضوعية: Diagnostic markers, Parkinson's disease, Predictive markers

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10147029/1/s41531-021-00274-8.pdf; https://discovery.ucl.ac.uk/id/eprint/10147029/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10147029/1/s41531-021-00274-8.pdf
https://discovery.ucl.ac.uk/id/eprint/10147029/

المؤلفون: Zago, E, Dal Molin, A, Dimitri, GM, Xumerle, L, Pirazzini, C, Bacalini, MG, Maturo, MG, Azevedo, T, Spasov, S, Gómez-Garre, P, Periñán, MT, Jesús, S, Baldelli, L, Sambati, L, Calandra-Buonaura, G, Garagnani, P, Provini, F, Cortelli, P, Mir, P, Trenkwalder, C, Mollenhauer, B, Franceschi, C, Liò, P, Nardini, C, Adarmes-Gómez, A, Bartoletti-Stella, A, Bhatia, KP, Marta, BT, Boninsegna, C, Broli, M, Dolores, BR, Capellari, S, Carrión-Claro, M, Cilea, R, Clayton, R, Molin, AD, De Luca, S, De Massis, P, Doykov, I, Escuela-Martin, R, Fabbri, G, Gabellini, A, Giuliani, C, Guaraldi, P, Hägg, S, Hällqvist, J, Halsband, C, Heywood, W, Houlden, H, Huertas, I, Jylhävä, J, Labrador-Espinosa, MA, Licari, C, Luchinat, C, Macias, D, Macrì, S, Magrinelli, F, Rodríguez, JFM, Massimo, D, Mengozzi, G, Meoni, G, Mignani, F, Milazzo, M, Mills, K, Nassetti, SA, Pedersen, NL, Periñán-Tocino, MT, Ravaioli, F, Sala, C, Scaglione, CLM, Schade, S, Schreglmann, S, Strom, S, Tejera-Parrado, C, Tenori, L, Turano, P, Valzania, F, Ortega, RV, Williams, D

المصدر: Scientific Reports , 12 , Article 1330. (2022)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10143118/1/s41598-022-05227-6.pdf; https://discovery.ucl.ac.uk/id/eprint/10143118/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10143118/1/s41598-022-05227-6.pdf
https://discovery.ucl.ac.uk/id/eprint/10143118/

المؤلفون: Antelmi, E, Rocchi, L, Latorre, A, Belvisi, D, Magrinelli, F, Bhatia, KP, Tinazzi, M

المصدر: Brain Sciences , 12 (1) , Article 118. (2022)

مصطلحات موضوعية: restless legs syndrome, sleep-related movement disorder, sensorimotor interaction, circadian disorders, dopamine, iron, sensory gating

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10142401/1/brainsci-12-00118.pdf; https://discovery.ucl.ac.uk/id/eprint/10142401/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10142401/1/brainsci-12-00118.pdf
https://discovery.ucl.ac.uk/id/eprint/10142401/

المؤلفون: Mulroy, E, Balint, B, Bhatia, KP

المصدر: Movement Disorders Clinical Practice , 9 (2) pp. 178-182. (2022)

مصطلحات موضوعية: multiple system atrophy, progressive supranuclear palsy, corticobasal syndrome, autoimmunity, immunotherapy, parkinsonian disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10142281/1/Bhatia_Homer-3%20in%20focus%20REV1%20clean%20copy.pdf; https://discovery.ucl.ac.uk/id/eprint/10142281/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10142281/1/Bhatia_Homer-3%20in%20focus%20REV1%20clean%20copy.pdf
https://discovery.ucl.ac.uk/id/eprint/10142281/

المؤلفون: Schreglmann, SR, Bhatia, KP

المصدر: Movement Disorders Clinical Practice (2022) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10141675/1/Movement%20Disord%20Clin%20Pract%20-%202022%20-%20Schreglmann%20-%20HOPS%E2%80%90Associated%20Neurological%20Disorders%20%20Lysosomal%20Dysfunction%20as%20an.pdf; https://discovery.ucl.ac.uk/id/eprint/10141675/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10141675/1/Movement%20Disord%20Clin%20Pract%20-%202022%20-%20Schreglmann%20-%20HOPS%E2%80%90Associated%20Neurological%20Disorders%20%20Lysosomal%20Dysfunction%20as%20an.pdf
https://discovery.ucl.ac.uk/id/eprint/10141675/

المؤلفون: Magrinelli, F, Cali, E, Braga, VL, Yis, U, Tomoum, H, Shamseldin, H, Raiman, J, Kernstock, C, Rezende Filho, FM, Povoas Barsottini, OG, Taylor, RW, Ostergaard, E, Tamim, A, Schaeferhoff, K, Ferraz Sallum, JM, Zaki, MS, Kok, F, Bhatia, KP, Wissinger, B, Sergeant, K, Haack, TB, Horvath, R, Hiz, S, Alkuraya, FS, Houlden, H, Pedroso, JL, Maroofian, R

المصدر: Movement Disorders Clinical Practice (2022) (In press).

مصطلحات موضوعية: NDUFA12, dystonia, optic atrophy, Leigh syndrome, phenotypic heterogeneity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdf; https://discovery.ucl.ac.uk/id/eprint/10141102/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdf
https://discovery.ucl.ac.uk/id/eprint/10141102/

المؤلفون: Huys, AML, Haggard, P, Bhatia, KP, Edwards, MJ

المصدر: Movement Disorders Clinical Practice , 9 (2) pp. 275-277. (2022)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10140383/1/mdc3.13386.pdf; https://discovery.ucl.ac.uk/id/eprint/10140383/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10140383/1/mdc3.13386.pdf
https://discovery.ucl.ac.uk/id/eprint/10140383/

المؤلفون: Magrinelli, F, Moualek, D, Tazir, M, Ali Pacha, L, Verghese, A, Bhatia, KP, Maroofian, R, Houlden, H

المصدر: Movement Disorders Clinical Practice , 9 (2) pp. 268-271. (2022)

مصطلحات موضوعية: deep brain stimulation, dystonia, EIF2AK2, genetics, movement disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10138415/1/mdc3.13371.pdf; https://discovery.ucl.ac.uk/id/eprint/10138415/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10138415/1/mdc3.13371.pdf
https://discovery.ucl.ac.uk/id/eprint/10138415/

المؤلفون: Morales-Briceno, H, Fung, VSC, Bhatia, KP, Balint, B

المصدر: Journal of the Neurological Sciences , 433 , Article 120016. (2022)

مصطلحات موضوعية: Dystonia, Parkinsonism

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10137726/1/Bhatia_Parkinsonism%20and%20dystonia%20clinical%20spectrum%20and%20diagnostic%20clues.%20docx.pdf; https://discovery.ucl.ac.uk/id/eprint/10137726/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10137726/1/Bhatia_Parkinsonism%20and%20dystonia%20clinical%20spectrum%20and%20diagnostic%20clues.%20docx.pdf
https://discovery.ucl.ac.uk/id/eprint/10137726/

المؤلفون: Christensen, MB, Levy, AM, Mohammadi, NA, Niceta, M, Kaiyrzhanov, R, Dentici, ML, Al Alam, C, Alesi, V, Benoit, V, Bhatia, KP, Bierhals, T, Boßelmann, CM, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, TB, Hammer, TB, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, MY, Moudi, M, Müller, AJ, Oostra, AJ, Pletcher, BA, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, MS, Zech, M, Lerche, H, Radio, FC, Gomez-Puertas, P, Møller, RS, Tümer, Z

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.ms-excel

Relation: https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdf; https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docx; https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsx; https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsx; Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; et al. Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; Bierhals, T; Boßelmann, CM; Buratti, J; Callewaert, B; Ceulemans, B; Charles, P; De Wachter, M; Dehghani, M; D'haenens, E; Doco-Fenzy, M; Geßner, M; Gobert, C; Guliyeva, U; Haack, TB; Hammer, TB; Heinrich, T; Hempel, M; Herget, T; Hoffmann, U; Horvath, J; Houlden, H; Keren, B; Kresge, C; Kumps, C; Lederer, D; Lermine, A; Magrinelli, F; Maroofian, R; Vahidi Mehrjardi, MY; Moudi, M; Müller, AJ; Oostra, AJ; Pletcher, BA; Ros-Pardo, D; Samarasekera, S; Tartaglia, M; Van Schil, K; Vogt, J; Wassmer, E; Winkelmann, J; Zaki, MS; Zech, M; Lerche, H; Radio, FC; Gomez-Puertas, P; Møller, RS; Tümer, Z (2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clin Genet, 102 (2). pp. 98-109. ISSN 1399-0004 https://doi.org/10.1111/cge.14165 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114577/
https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdf
https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docx
https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsx
https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsx
https://doi.org/10.1111/cge.14165

المؤلفون: Sadnicka, A, Rocchi, L, Latorre, A, Antelmi, E, Teo, J, Pareés, I, Hoffland, BS, Brock, K, Kornysheva, K, Edwards, MJ, Bhatia, KP, Rothwell, JC

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/114202/1/Movement%20Disorders%20-%202022%20-%20Sadnicka%20-%20A%20Critical%20Investigation%20of%20Cerebellar%20Associative%20Learning%20in%20Isolated%20Dystonia.pdf; Sadnicka, A; Rocchi, L; Latorre, A; Antelmi, E; Teo, J; Pareés, I; Hoffland, BS; Brock, K; Kornysheva, K; Edwards, MJ; et al. Sadnicka, A; Rocchi, L; Latorre, A; Antelmi, E; Teo, J; Pareés, I; Hoffland, BS; Brock, K; Kornysheva, K; Edwards, MJ; Bhatia, KP; Rothwell, JC (2022) A Critical Investigation of Cerebellar Associative Learning in Isolated Dystonia. Mov Disord, 37 (6). pp. 1187-1192. ISSN 1531-8257 https://doi.org/10.1002/mds.28967 SGUL Authors: Sadnicka, Anna

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114202/
https://openaccess.sgul.ac.uk/id/eprint/114202/1/Movement%20Disorders%20-%202022%20-%20Sadnicka%20-%20A%20Critical%20Investigation%20of%20Cerebellar%20Associative%20Learning%20in%20Isolated%20Dystonia.pdf
https://doi.org/10.1002/mds.28967

المؤلفون: Magrinelli, F, Mehta, S, Di Lazzaro, G, Latorre, A, Edwards, MJ, Balint, B, Basu, P, Kobylecki, C, Groppa, S, Hegde, A, Mulroy, E, Estevez-Fraga, C, Arora, A, Kumar, H, Schneider, SA, Lewis, PA, Jaunmuktane, Z, Revesz, T, Gandhi, S, Wood, NW, Hardy, JA, Tinazzi, M, Lal, V, Houlden, H, Bhatia, KP

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff; application/vnd.ms-excel

Relation: https://openaccess.sgul.ac.uk/id/eprint/113782/1/mds.28807.pdf; https://openaccess.sgul.ac.uk/id/eprint/113782/6/mds28807-sup-0001-supinfo.docx; https://openaccess.sgul.ac.uk/id/eprint/113782/7/mds28807-sup-0002-supinfo.tif; https://openaccess.sgul.ac.uk/id/eprint/113782/13/mds28807-sup-0003-supinfo.xlsx; https://openaccess.sgul.ac.uk/id/eprint/113782/14/mds28807-sup-0004-supinfo.tif; https://openaccess.sgul.ac.uk/id/eprint/113782/23/mds28807-sup-0005-supinfo.tif; Magrinelli, F; Mehta, S; Di Lazzaro, G; Latorre, A; Edwards, MJ; Balint, B; Basu, P; Kobylecki, C; Groppa, S; Hegde, A; et al. Magrinelli, F; Mehta, S; Di Lazzaro, G; Latorre, A; Edwards, MJ; Balint, B; Basu, P; Kobylecki, C; Groppa, S; Hegde, A; Mulroy, E; Estevez-Fraga, C; Arora, A; Kumar, H; Schneider, SA; Lewis, PA; Jaunmuktane, Z; Revesz, T; Gandhi, S; Wood, NW; Hardy, JA; Tinazzi, M; Lal, V; Houlden, H; Bhatia, KP (2022) Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism. Mov Disord, 37 (1). pp. 148-161. ISSN 1531-8257 https://doi.org/10.1002/mds.28807 SGUL Authors: Edwards, Mark John James

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113782/
https://openaccess.sgul.ac.uk/id/eprint/113782/1/mds.28807.pdf
https://openaccess.sgul.ac.uk/id/eprint/113782/6/mds28807-sup-0001-supinfo.docx
https://openaccess.sgul.ac.uk/id/eprint/113782/7/mds28807-sup-0002-supinfo.tif
https://openaccess.sgul.ac.uk/id/eprint/113782/13/mds28807-sup-0003-supinfo.xlsx
https://openaccess.sgul.ac.uk/id/eprint/113782/14/mds28807-sup-0004-supinfo.tif
https://openaccess.sgul.ac.uk/id/eprint/113782/23/mds28807-sup-0005-supinfo.tif
https://doi.org/10.1002/mds.28807