Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: Brain communications, 3,2021, 3, S. 1-14

Classification: Medizin, Gesundheit

Event: Veröffentlichung

(where): Frankfurt am Main

(who): Universitätsbibliothek Johann Christian Senckenberg

(when): 2021

Creator: Maroofian, Reza
Gubas, Andrea
Kaiyrzhanov, Rauan
Scala, Marcello
Hundallah, Khalid
Severino, Mariasavina
Abdel-Hamid, Mohamed S.
Rosenfeld, Jill A.
Ebrahimi-Fakhari, Darius
Ali, Zahir
Rahim, Fazal
Houlden, Henry
Tooze, Sharon A.
Alsaleh, Norah S.
Zaki, Maha S.

DOI: 10.1093/braincomms/fcab183

URN: urn:nbn:de:hebis:30:3-633116

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:04 AM CEST

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Associated

Maroofian, Reza
Gubas, Andrea
Kaiyrzhanov, Rauan
Scala, Marcello
Hundallah, Khalid
Severino, Mariasavina
Abdel-Hamid, Mohamed S.
Rosenfeld, Jill A.
Ebrahimi-Fakhari, Darius
Ali, Zahir
Rahim, Fazal
Houlden, Henry
Tooze, Sharon A.
Alsaleh, Norah S.
Zaki, Maha S.
Universitätsbibliothek Johann Christian Senckenberg

Time of origin

2021

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Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

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Other Objects (12)

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Severe neurodevelopmental disease caused by a homozygous TLK2 variant

Intellectual disability associated with a homozygous missense mutation in THOC6

A rare homozygous missense mutation of COL7A1 in a Vietnamese family

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A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

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Intellectual disability associated with a homozygous missense mutation in THOC6

A rare homozygous missense mutation of COL7A1 in a Vietnamese family

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A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

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Sacs R272C missense homozygous mice develop an ataxia phenotype

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Intellectual disability associated with a homozygous missense mutation in THOC6

A rare homozygous missense mutation of COL7A1 in a Vietnamese family

Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family

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Elevated cerebral perfusion in neonatal encephalopathy is associated with neurodevelopmental impairments

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Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

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