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Search Results - Esteves, Typhaine
Search Results - Esteves, Typhaine
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Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration
by
Branchu, Julien
,
Boutry, Maxime
,
Sourd, Laura
,
Depp, Marine
,
Leone, Céline
,
Corriger, Alexandrine
,
Vallucci, Maeva
,
Esteves, Typhaine
,
Matusiak, Raphaël
,
Dumont, Magali
,
Muriel, Marie-Paule
,
Santorelli, Filippo M
,
Brice, Alexis
,
El Hachimi, Khalid Hamid
,
Stevanin, Giovanni
,
Darios, Frédéric
Published in
Neurobiology of disease
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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
by
Hirst, Jennifer
,
Edgar, James R
,
Esteves, Typhaine
,
Darios, Frédéric
,
Madeo, Marianna
,
Chang, Jaerak
,
Roda, Ricardo H
,
Dürr, Alexandra
,
Anheim, Mathieu
,
Gellera, Cinzia
,
Li, Jun
,
Züchner, Stephan
,
Mariotti, Caterina
,
Stevanin, Giovanni
,
Blackstone, Craig
,
Kruer, Michael C
,
Robinson, Margaret S
Published in
Human molecular genetics
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Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia
by
Murmu, Reena Prity
,
Martin, Elodie
,
Rastetter, Agnès
,
Esteves, Typhaine
,
Muriel, Marie-Paule
,
El Hachimi, Khalid Hamid
,
Denora, Paola Silvia
,
Dauphin, Aurélien
,
Fernandez, José Carlos
,
Duyckaerts, Charles
,
Brice, Alexis
,
Darios, Frédéric
,
Stevanin, Giovanni
Published in
Molecular and cellular neuroscience
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Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
by
Yahia, Ashraf
,
Elsayed, Liena E. O.
,
Valter, Remi
,
Hamed, Ahlam A. A.
,
Mohammed, Inaam N.
,
Elseed, Maha A.
,
Salih, Mustafa A.
,
Esteves, Typhaine
,
Auger, Nicolas
,
Abubaker, Rayan
,
Koko, Mahmoud
,
Abozar, Fatima
,
Malik, Hiba
,
Adil, Rawaa
,
Emad, Sara
,
Musallam, Mhammed Alhassan
,
Idris, Razaz
,
Eltazi, Isra Z. M.
,
Babai, Arwa
,
Ahmed, Elhami A. A.
,
Abd Allah, Amal S. I.
,
Mairey, Mathilde
,
Ahmed, Ahmed K. M. A.
,
Elbashir, Mustafa I.
,
Brice, Alexis
,
Ibrahim, Muntaser E.
,
Ahmed, Ammar E.
,
Lamari, Foudil
,
Stevanin, Giovanni
Published in
Frontiers in neurology
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Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
by
Tesson, Christelle
,
Nawara, Magdalena
,
Salih, Mustafa A.M.
,
Rossignol, Rodrigue
,
Zaki, Maha S.
,
Al Balwi, Mohammed
,
Schule, Rebecca
,
Mignot, Cyril
,
Obre, Emilie
,
Bouhouche, Ahmed
,
Santorelli, Filippo M.
,
Durand, Christelle M.
,
Oteyza, Andrés Caballero
,
El-Hachimi, Khalid H.
,
Al Drees, Abdulmajeed
,
Bouslam, Naima
,
Lamari, Foudil
,
Elmalik, Salah A.
,
Kabiraj, Mohammad M.
,
Seidahmed, Mohammed Z.
,
Esteves, Typhaine
,
Gaussen, Marion
,
Monin, Marie-Lorraine
,
Gyapay, Gabor
,
Lechner, Doris
,
Gonzalez, Michael
,
Depienne, Christel
,
Mochel, Fanny
,
Lavie, Julie
,
Schols, Ludger
,
Lacombe, Didier
,
Yahyaoui, Mohamed
,
Al Abdulkareem, Ibrahim
,
Zuchner, Stephan
,
Yamashita, Atsushi
,
Benomar, Ali
,
Goizet, Cyril
,
Durr, Alexandra
,
Gleeson, Joseph G.
,
Darios, Frederic
,
Brice, Alexis
,
Stevanin, Giovanni
Published in
American journal of human genetics
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The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
by
Parodi, Livia
,
Barbier, Mathieu
,
Jacoupy, Maxime
,
Pujol, Claire
,
Lejeune, François-Xavier
,
Lallemant-Dudek, Pauline
,
Esteves, Typhaine
,
Pennings, Maartje
,
Kamsteeg, Erik-Jan
,
Guillaud-Bataille, Marine
,
Banneau, Guillaume
,
Coarelli, Giulia
,
Oumoussa, Badreddine Mohand
,
Fraidakis, Matthew J.
,
Stevanin, Giovanni
,
Depienne, Christel
,
van de Warrenburg, Bart
,
Brice, Alexis
,
Durr, Alexandra
Published in
Genetics in medicine
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An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families
by
Koko, Mahmoud
,
Yahia, Ashraf
,
Elsayed, Liena E.
,
Hamed, Ahlam A.
,
Mohammed, Inaam N.
,
Elseed, Maha A.
,
Hamad, Muddathir H. A.
,
Babai, Arwa M.
,
Siddig, Rayan A.
,
Abd Allah, Amal S. I.
,
Mohamed, Mayada
,
EL‐Amin, Melka
,
Esteves, Typhaine
,
Altmüller, Janine
,
Toliat, Mohammad Reza
,
Thiele, Holger
,
Nürnberg, Peter
,
Salih, Mustafa A.
,
Ahmed, Ammar E.
,
Lerche, Holger
,
Stevanin, Giovanni
Published in
Annals of human genetics
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